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
CUL9	23113	broad.mit.edu	37	6	43152561	43152561	+	Silent	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:43152561C>A	ENST00000252050.4	+	2	597	c.513C>A	c.(511-513)ctC>ctA	p.L171L	CUL9_ENST00000372647.2_Silent_p.L171L|CUL9_ENST00000354495.3_Silent_p.L171L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	171					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGACCTGCTCATGCACATGT	0.607000													25	62					1.39806e-14	1.51027e-14	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135549201	135549201	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:135549201C>G	ENST00000513104.1	-	12	2793	c.2511G>C	c.(2509-2511)ctG>ctC	p.L837L	TRPC7_ENST00000426057.2_Silent_p.L721L|TRPC7_ENST00000355180.3_Silent_p.L776L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	837					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTGTTGAATCAGGTCTGCCA	0.483000													22	29					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039048	39039048	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:39039048G>C	ENST00000355481.4	+	88	12386	c.12255G>C	c.(12253-12255)aaG>aaC	p.K4085N	RYR1_ENST00000360985.3_Missense_Mutation_p.K4085N|RYR1_ENST00000359596.3_Missense_Mutation_p.K4090N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4090					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)	TCTCCAAGAAGGACTTCCAGA	0.572000													72	118					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37915013	37915013	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr22:37915013C>T	ENST00000403299.1	-	2	411	c.195G>A	c.(193-195)gtG>gtA	p.V65V	CARD10_ENST00000251973.5_Silent_p.V65V			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	65	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGGTGCTCAGCACCTCCTCCT	0.736000													9	22					0	0	1	0	0
SURF1	6834	broad.mit.edu	37	9	136218807	136218807	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr9:136218807C>G	ENST00000371974.3	-	9	895	c.864G>C	c.(862-864)ctG>ctC	p.L288L	SURF1_ENST00000495952.1_5'UTR	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	288					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		TCTTAAACCACAGGTAGGATG	0.527000											OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	7					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120611929	120611929	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:120611929G>C	ENST00000300648.6	-	13	1150	c.1138C>G	c.(1138-1140)Cag>Gag	p.Q380E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	380					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGGACCTGACTGGAAGGT	0.512000													8	38					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48802322	48802322	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:48802322G>A	ENST00000316623.5	-	14	2088	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	545	EGF-like 8; calcium-binding.		R -> C (in MFS).		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	p.R545C(1)		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)		TTGATGCAGCGTCCATTATTG	0.358000													22	34					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257323	63257323	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:63257323A>G	ENST00000323865.3	-	1	457	c.224T>C	c.(223-225)aTt>aCt	p.I75T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	75					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAAAGAGCCAATAAGATAATT	0.612000													31	15					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68042567	68042567	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:68042567G>A	ENST00000329153.5	+	16	2329	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	733	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCCTGTGCGGGATGCGCACAT	0.572000													22	17					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144458799	144458799	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:144458799G>A	ENST00000289013.6	+	3	382	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	94					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTCAGCGGTGGCGTGGACCCT	0.647000													4	5					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477539	21477539	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:21477539T>C	ENST00000356929.3	-	4	426	c.229A>G	c.(229-231)Atg>Gtg	p.M77V		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGAGAACACATAGCTGAAAGA	0.289000													15	41					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62369618	62369618	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:62369618C>G	ENST00000309546.3	+	5	438	c.351C>G	c.(349-351)ccC>ccG	p.P117P	RP4-583P15.15_ENST00000490623.2_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGCAGCCCCCTCTGCCTTCC	0.716000													7	6					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146686741	146686741	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:146686741C>G	ENST00000508784.1	-	12	3237	c.3010G>C	c.(3010-3012)Ggg>Cgg	p.G1004R	ZNF827_ENST00000379448.4_Missense_Mutation_p.G1004R|ZNF827_ENST00000513320.1_Missense_Mutation_p.G654R			Q17R98	ZN827_HUMAN	zinc finger protein 827	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGCTGGCTCCCAGGCATGACA	0.542000													111	2					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59814260	59814260	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:59814260G>A	ENST00000395125.1	+	17	2132	c.2109G>A	c.(2107-2109)ttG>ttA	p.L703L	DAAM1_ENST00000351081.1_Silent_p.L703L|DAAM1_ENST00000360909.3_Silent_p.L693L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	703	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCTCCAGGTTGAAATTATCCA	0.368000													8	28					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014673	127014673	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:127014673G>T	ENST00000393313.1	-	5	1308	c.717C>A	c.(715-717)ttC>ttA	p.F239L	ZNF800_ENST00000265827.3_Missense_Mutation_p.F239L|ZNF800_ENST00000393312.1_Missense_Mutation_p.F239L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTCTAGAATTGAATTCTTTTC	0.383000													26	70					1.66031e-10	1.7699e-10	1	1	0
CASP9	842	broad.mit.edu	37	1	15833453	15833453	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:15833453G>A	ENST00000546424.1	-	4	815	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000333868.5_Missense_Mutation_p.R191W|CASP9_ENST00000375890.4_Missense_Mutation_p.R108W			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	191					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AAGCGACGCCGCAACTTCTCA	0.597000													5	232					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48586221	48586221	+	Silent	SNP	G	G	A	rs143732421		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:48586221G>A	ENST00000340553.3	+	4	834	c.573G>A	c.(571-573)ccG>ccA	p.P191P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	191					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GTGTTGATCCGGAATATAAAC	0.353000													12	47					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562492	22562492	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:22562492G>C	ENST00000419308.2	-	2	1572	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	FOXA2_ENST00000377115.4_Missense_Mutation_p.S457C	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	0					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTCTTCTTAAGAGGAGTTCAT	0.612000													7	215					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334786	71334786	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:71334786G>A	ENST00000392650.3	-	45	6459	c.6459C>T	c.(6457-6459)ccC>ccT	p.P2153P	SDK2_ENST00000388726.3_Silent_p.P2134P|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2153					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGCTGGGGGGACGGTAGA	0.592000													17	41					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102550319	102550319	+	Splice_Site	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:102550319G>T	ENST00000334701.7	-	8	1796	c.1515C>A	c.(1513-1515)aaC>aaA	p.N505K	HSP90AA1_ENST00000441629.2_Splice_Site_p.N204K|HSP90AA1_ENST00000216281.8_Splice_Site_p.N383K	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	383					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CTCTAATGAAGTCTGAAAAAA	0.388000													12	17					1.08611e-07	1.13165e-07	1	1	0
KCNIP2	30819	broad.mit.edu	37	10	103603309	103603309	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:103603309C>A	ENST00000358038.3	-	1	368	c.17G>T	c.(16-18)cGc>cTc	p.R6L	KCNIP2_ENST00000353068.3_Missense_Mutation_p.R6L|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Missense_Mutation_p.R6L|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R6L|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R6L|KCNIP2_ENST00000370046.1_Missense_Mutation_p.R6L	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	6					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ACTCTCCTTGCGGCCCTGGCC	0.746000													6	21					3.59834e-05	3.67805e-05	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107823175	107823175	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:107823175C>T	ENST00000379028.3	-	23	2964	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	NRCAM_ENST00000351718.4_Missense_Mutation_p.E816K|NRCAM_ENST00000425651.2_Missense_Mutation_p.E832K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E813K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E832K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E813K			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	832	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCTGGCTCGGGGGCAAAC	0.493000													16	43					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102939929	102939929	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:102939929G>A	ENST00000249269.4	+	3	318	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PMPCB_ENST00000428154.1_Missense_Mutation_p.E94K|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	94					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATACGAAAATGAGAAGAACAA	0.353000													14	28					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125771922	125771922	+	Silent	SNP	G	G	A	rs141376300		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:125771922G>A	ENST00000346248.5	-	7	2064	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	CHST15_ENST00000435907.1_Silent_p.L474L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	474					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGCGAAGAATGAGAAACTGTT	0.493000													16	20					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65942064	65942064	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:65942064A>T	ENST00000321892.4	+	23	7679	c.7618A>T	c.(7618-7620)Act>Tct	p.T2540S	BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Missense_Mutation_p.T2414S|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2540				T -> S (in Ref. 1; BAA89208).	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAATCAAGTTACTGTTTCATC	0.478000													27	98					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155557	111155557	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:111155557C>T	ENST00000262839.2	-	3	1780	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	288					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAACTTGGCCAGGTCATGG	0.517000													5	248					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6967703	6967703	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:6967703G>A	ENST00000229268.8	+	8	1032	c.980G>A	c.(979-981)gGc>gAc	p.G327D	USP5_ENST00000389231.5_Missense_Mutation_p.G327D	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	327					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGCTACACAGGCATCCGGAAC	0.557000													15	43					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317879	38317879	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:38317879A>G	ENST00000311856.4	+	8	1388	c.1339A>G	c.(1339-1341)Atc>Gtc	p.I447V		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	447						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TTTCCCCACCATCCTCCGGTA	0.572000													42	47					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742891	54742891	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:54742891C>T	ENST00000396365.2	-	8	1423	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G445R	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.G462W(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACAGAATCCCGAGGAACACC	0.577000													65	26					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650113	650113	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:650113C>T	ENST00000576778.1	-	1	2478	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Silent_p.T390T			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	390					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCACCGTGCTCGTTTTCCTCA	0.572000													6	146					0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8464920	8464920	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:8464920C>T	ENST00000328024.6	+	2	432	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.R72C	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	72					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TGGCCAGGAGCGCTACCGCGC	0.672000													13	67					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44176792	44176792	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:44176792C>T	ENST00000260665.7	-	16	1741	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	562					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TACAACAATTCTGTTATCTGG	0.388000													9	14					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205498157	205498157	+	Silent	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:205498157C>A	ENST00000360066.2	+	11	1306	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	CDK18_ENST00000429964.2_Silent_p.A335A|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.A365A	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	333	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACGAGATGGCCACAGGGAGGC	0.677000											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	8					2.0095e-06	2.08703e-06	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128524	147128524	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:147128524G>T	ENST00000282928.4	+	1	1354	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	209					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G209C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGCGCATCACGGCGCCGGCGC	0.642000													15	77					3.52763e-06	3.652e-06	1	1	0
HEMK1	51409	broad.mit.edu	37	3	50608626	50608626	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:50608626C>T	ENST00000232854.4	+	2	643	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	HEMK1_ENST00000455834.1_Missense_Mutation_p.P31S|HEMK1_ENST00000434410.1_Missense_Mutation_p.P31S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	31					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CTCATGGCAACCCCAACCACC	0.622000													4	119					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246351	233246351	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:233246351C>G	ENST00000392027.2	+	11	1723	c.1454C>G	c.(1453-1455)gCc>gGc	p.A485G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	485						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACGTCATGGCCTTCGCCGCC	0.751000													9	19					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19029751	19029751	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:19029751C>T	ENST00000420770.2	+	7	1199	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	PAX7_ENST00000400661.3_Silent_p.S370S|PAX7_ENST00000375375.3_Silent_p.S372S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	372					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGCGCCCTCCAACCACATGA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma								26	111					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:109371692T>C	ENST00000283195.6	+	17	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	815					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348000													6	231					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7182181	7182181	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:7182181G>C	ENST00000379938.2	+	4	574	c.37G>C	c.(37-39)Gac>Cac	p.D13H	RREB1_ENST00000349384.6_Missense_Mutation_p.D13H|RREB1_ENST00000334984.6_Missense_Mutation_p.D13H|RREB1_ENST00000379933.3_Missense_Mutation_p.D13H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	13					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAAGGTTCAGACCTATCTTC	0.517000													80	230					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179252156	179252156	+	Silent	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:179252156A>G	ENST00000389805.4	+	5	862	c.684A>G	c.(682-684)ccA>ccG	p.P228P	SQSTM1_ENST00000360718.5_Silent_p.P144P|SQSTM1_ENST00000510187.1_Silent_p.P228P|SQSTM1_ENST00000376929.3_Silent_p.P144P|SQSTM1_ENST00000402874.3_Silent_p.P144P	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	228					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTGGTCCATCGGAGGATC	0.498000													27	73					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588266	57588266	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:57588266G>A	ENST00000243077.3	+	49	8514	c.8048G>A	c.(8047-8049)aGt>aAt	p.S2683N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2683	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGGACTACAGTGATGAGCGC	0.677000													82	252					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	661685	661685	+	Missense_Mutation	SNP	G	G	A	rs145057819		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:661685G>A	ENST00000266383.5	+	13	1274	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	421						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCAGGGGCTGGAGCAGCCAGG	0.612000													17	55					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356881	55356881	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:55356881G>A	ENST00000524622.1	-	7	1048	c.387C>T	c.(385-387)atC>atT	p.I129I	TESPA1_ENST00000531122.1_Silent_p.I129I|TESPA1_ENST00000449076.1_Silent_p.I267I|TESPA1_ENST00000532804.1_Silent_p.I129I|TESPA1_ENST00000316577.8_Silent_p.I267I	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	267																	ACAGAATCCTGATGGATGGCA	0.527000													19	36					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405818	33405818	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:33405818C>T	ENST00000418600.2	+	8	1237	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S320L|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S379L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	379					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.S364L(1)|p.S379L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGCATGGGTTCGGGAGGGGGA	0.652000													14	32					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:18956162C>G	ENST00000302797.3	-	1	394	c.170G>C	c.(169-171)cGc>cCc	p.R57P	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557000													95	6					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24666976	24666976	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:24666976C>T	ENST00000378198.4	-	1	285	c.115G>A	c.(115-117)Gat>Aat	p.D39N	TDP2_ENST00000545995.1_Missense_Mutation_p.D69N			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	39					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACTGCGGCATCGCAGCTTGCG	0.627000								Direct reversal of damage					107	376					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693450	45693450	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:45693450C>T	ENST00000310806.4	-	11	2798	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	780					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTAATTTCCTTTTCTGTTT	0.343000													5	44					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175619	35175619	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:35175619A>C	ENST00000505242.1	+	5	1171	c.677A>C	c.(676-678)gAg>gCg	p.E226A	ZNF302_ENST00000446502.2_Missense_Mutation_p.E270A|ZNF302_ENST00000457781.2_Missense_Mutation_p.E226A|ZNF302_ENST00000423823.2_Missense_Mutation_p.E226A|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CATACAGGAGAGAAGCCCTAT	0.433000													52	166					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093442	140093442	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr9:140093442C>T	ENST00000409012.4	-	1	1808	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.K513K	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	574					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CACTGACCTTCTTTCTTGAGG	0.627000													29	82					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11617240	11617240	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:11617240T>A	ENST00000270517.7	-	8	1190	c.1055A>T	c.(1054-1056)gAg>gTg	p.E352V	ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000592312.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.E138V|ECSIT_ENST00000588998.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	352					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGGGCCTTCCTCCACTGTTGG	0.577000													50	45					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909230	909230	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:909230G>A	ENST00000379409.2	+	13	1638	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	PLEKHN1_ENST00000379410.3_Silent_p.Q484Q|PLEKHN1_ENST00000379407.3_Silent_p.Q449Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	536										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GTGCCATGCAGAGTGCACGTG	0.692000													26	21					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149826366	149826366	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:149826366A>G	ENST00000370396.2	+	11	1180	c.1126A>G	c.(1126-1128)Agt>Ggt	p.S376G	MTM1_ENST00000543350.1_Missense_Mutation_p.S261G|MTM1_ENST00000413012.2_Missense_Mutation_p.S339G|MTM1_ENST00000542741.1_Missense_Mutation_p.S281G|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	376	Myotubularin phosphatase.		S -> N (in XCNM; dramatic decrease in phosphatase activity).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGCATTGCAGTGACGGATG	0.453000													80	67					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19444607	19444607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr18:19444607C>T	ENST00000261537.6	+	21	3265	c.3001C>T	c.(3001-3003)Cga>Tga	p.R1001*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	1001					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGCTATTGAACGAAGGATTCT	0.388000													14	47					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232227	32232227	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:32232227C>G	ENST00000492345.1	+	13	2188	c.1503C>G	c.(1501-1503)ttC>ttG	p.F501L	CBFA2T2_ENST00000543126.1_Missense_Mutation_p.F78L|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.F501L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.F540L|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.F530L|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.F521L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.F530L			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	530						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTGGCTCTTTCTGCCAGCACA	0.617000													7	237					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64520009	64520009	+	Silent	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:64520009T>C	ENST00000358025.3	+	48	9608	c.9378T>C	c.(9376-9378)aaT>aaC	p.N3126N	SYNE2_ENST00000554584.1_Silent_p.N3159N|SYNE2_ENST00000344113.4_Silent_p.N3126N|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3126					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAGCTGAATGCAGAAGAAA	0.299000													14	17					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17578799	17578799	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr22:17578799C>T	ENST00000319363.6	+	3	409	c.276C>T	c.(274-276)ccC>ccT	p.P92P	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	92					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCTGTTCCCCGTGGCTCACA	0.607000													29	68					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197512	11197512	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:11197512C>A	ENST00000337414.4	-	7	2262	c.1390G>T	c.(1390-1392)Gat>Tat	p.D464Y	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.D273Y|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D261Y|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.D496Y|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.D464Y|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D289Y|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D261Y	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	464	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTGCCACATCATGAACACTG	0.502000													35	121					2.09667e-21	2.28792e-21	1	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75556952	75556952	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:75556952G>A	ENST00000604729.1	+	17	3653	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1119H|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1114H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1081H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1114H					zinc finger, SWIM-type containing 8																		GTTCCTAGCCGCTTGGCACTT	0.577000													17	24					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170462	119170462	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:119170462A>C	ENST00000264033.4	+	16	3068	c.2692A>C	c.(2692-2694)Att>Ctt	p.I898L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	898	Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATTTGTTTCCATTTCTTCTCC	0.493000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				133	198					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600305	3600305	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:3600305C>G	ENST00000302006.3	+	2	1295	c.1243C>G	c.(1243-1245)Ccg>Gcg	p.P415A		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	415	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACCGCAGCCGCCGGTCGCTAT	0.706000													21	32					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809178	24809178	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:24809178G>A	ENST00000376451.2	+	6	1613	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	KIAA1217_ENST00000376452.3_Silent_p.L733L|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_Silent_p.L733L|KIAA1217_ENST00000307544.6_Silent_p.L451L|KIAA1217_ENST00000376462.1_Silent_p.L688L|KIAA1217_ENST00000396445.1_Silent_p.L451L|KIAA1217_ENST00000396446.1_Silent_p.L451L|KIAA1217_ENST00000376454.3_Silent_p.L768L			Q5T5P2	SKT_HUMAN	KIAA1217	768					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGCTACCCTGAAAGGTAAAC	0.512000													74	146					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622000													5	250					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509143	71509143	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:71509143G>A	ENST00000396073.3	+	9	2281	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	667					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GTCTTTCCTGGACAAAATAGA	0.438000													36	70					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	39991239	39991239	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:39991239G>C	ENST00000181839.4	+	1	1604	c.999G>C	c.(997-999)caG>caC	p.Q333H	CDK13_ENST00000340829.5_Missense_Mutation_p.Q333H	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	333					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGGCCTCTCAGAGCCTGAGGA	0.726000													7	13					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440393	57440393	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:57440393C>T	ENST00000442789.2	-	9	870	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	MYO1A_ENST00000300119.3_Missense_Mutation_p.E195K|MYO1A_ENST00000544473.1_Missense_Mutation_p.E33K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	195	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AAGTTCCTTTCTCCTTTGAGC	0.483000													47	106					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146940	111146940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:111146940G>T	ENST00000485317.1	-	3	1138	c.465C>A	c.(463-465)taC>taA	p.Y155*	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Nonsense_Mutation_p.Y155*|KCNA2_ENST00000440270.1_Nonsense_Mutation_p.Y155*|KCNA2_ENST00000369770.3_Nonsense_Mutation_p.Y155*			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	155						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AGCTCTCTGGGTATTCAAAGA	0.473000													24	67					2.39556e-15	2.59653e-15	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193160211	193160211	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:193160211C>T	ENST00000342695.4	-	19	2609	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E744K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	763					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTTTCTTCTCTTCTACTAAC	0.423000													13	27					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154982	108154982	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:108154982C>G	ENST00000426128.2	-	2	1079	c.954G>C	c.(952-954)aaG>aaC	p.K318N	PNPLA8_ENST00000436062.1_Missense_Mutation_p.K318N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.K218N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K318N|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K318N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K318N|PNPLA8_ENST00000483879.1_Intron	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	318					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTGACTGACTCTTTGAATCAT	0.413000													34	80					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587828	47587828	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:47587828C>T	ENST00000371917.4	+	10	1362	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	454					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTTTGAGCTCTCTCTTGCCA	0.378000													52	42					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108496045	108496045	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:108496045C>G	ENST00000368986.4	+	3	885	c.177C>G	c.(175-177)ggC>ggG	p.G59G	NR2E1_ENST00000368983.3_Silent_p.G96G	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	59					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCAGGGAGGCTGTCCGGTGG	0.612000													22	2					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17306266	17306266	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:17306266G>A	ENST00000595618.1	+	22	4182	c.4030G>A	c.(4030-4032)Gcc>Acc	p.A1344T	MYO9B_ENST00000594824.1_Missense_Mutation_p.A1344T|MYO9B_ENST00000397274.2_Missense_Mutation_p.A1344T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1344	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACAGGGGCCGCCCTCACGCC	0.667000													28	6					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280141	43280141	+	Silent	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:43280141T>C	ENST00000512796.1	+	4	2120	c.621T>C	c.(619-621)aaT>aaC	p.N207N	NIM1_ENST00000326035.2_Silent_p.N207N			Q8IY84	NIM1_HUMAN		207	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ATACCAGTAATACTTGTGTGA	0.393000													42	22					0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73895041	73895041	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:73895041C>A	ENST00000309352.3	-	9	1570	c.1033G>T	c.(1033-1035)Gtg>Ttg	p.V345L	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.V161L	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	345						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGGCCGCACGAACTCAAAC	0.672000													31	14					4.4194e-11	4.72671e-11	1	1	0
JPH2	57158	broad.mit.edu	37	20	42744351	42744351	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:42744351C>T	ENST00000372980.3	-	4	2836	c.1964G>A	c.(1963-1965)cGg>cAg	p.R655Q		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	655					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.R655L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTCCTTCCGCGCCTTCTT	0.672000													30	73					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193328	30193328	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:30193328C>G	ENST00000376105.3	+	1	237	c.138C>G	c.(136-138)gcC>gcG	p.A46A	ID1_ENST00000376112.3_Silent_p.A46A	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	46				A -> R (in Ref. 1 and 2).	angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGCGCTgcgccgggggcgccg	0.701000													19	6					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839354	233839354	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:233839354G>A	ENST00000264051.3	-	2	525	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	83	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTGGCGTTCCGTTCGGGGTTG	0.498000													86	89					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152831463	152831463	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:152831463G>C	ENST00000367255.5	-	8	1047	c.446C>G	c.(445-447)tCc>tGc	p.S149C	SYNE1_ENST00000367248.3_Missense_Mutation_p.S156C|SYNE1_ENST00000367253.4_Missense_Mutation_p.S149C|SYNE1_ENST00000466159.2_Missense_Mutation_p.S149C|SYNE1_ENST00000341594.5_Missense_Mutation_p.S149C|SYNE1_ENST00000413186.2_Missense_Mutation_p.S149C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S149C|SYNE1_ENST00000423061.1_Missense_Mutation_p.S156C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S156C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	149	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCTGCTGGACAAAGACTG	0.463000										HNSCC(10;0.0054)			22	22					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948628	198948628	+	Silent	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:198948628C>A	ENST00000428675.1	+	2	785	c.387C>A	c.(385-387)cgC>cgA	p.R129R	PLCL1_ENST00000437704.2_Silent_p.R31R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	129	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAATTCTCGCATTTACAACC	0.458000													29	22					2.64397e-27	2.90477e-27	1	1	0
GPR161	23432	broad.mit.edu	37	1	168066163	168066163	+	Missense_Mutation	SNP	C	C	T	rs143799014	by1000genomes	TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:168066163C>T	ENST00000367838.1	-	5	995	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	GPR161_ENST00000271357.5_Missense_Mutation_p.V228I|GPR161_ENST00000367835.1_Missense_Mutation_p.V228I|GPR161_ENST00000361697.2_Missense_Mutation_p.V228I|GPR161_ENST00000367836.1_Missense_Mutation_p.V96I|GPR161_ENST00000537209.1_Missense_Mutation_p.V248I|GPR161_ENST00000546300.1_Missense_Mutation_p.V114I|GPR161_ENST00000539777.1_Missense_Mutation_p.V150I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	228					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCACGATGACGACTGTGCCA	0.592000													32	133					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6908776	6908776	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:6908776C>T	ENST00000312053.4	+	10	1152	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	EMR1_ENST00000450315.3_Missense_Mutation_p.S195F|EMR1_ENST00000250572.8_Missense_Mutation_p.S372F|EMR1_ENST00000381404.4_Missense_Mutation_p.S320F|EMR1_ENST00000381407.5_Missense_Mutation_p.S231F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	372	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCGTAGTTTCTCTGAAGGTA	0.398000													12	56					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958966	78958966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:78958966C>T	ENST00000370756.3	+	2	775	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.Q180*|PTGFR_ENST00000370757.3_Nonsense_Mutation_p.Q180*	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	180					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CTATAAAATTCAGGCGTCGAG	0.403000													40	115					0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48475192	48475192	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:48475192C>T	ENST00000395694.2	-	3	487	c.402G>A	c.(400-402)agG>agA	p.R134R	CCDC51_ENST00000395696.1_Silent_p.R134R|CCDC51_ENST00000442740.1_Silent_p.R25R|CCDC51_ENST00000447018.1_Silent_p.R25R|CCDC51_ENST00000412398.2_Silent_p.R25R	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	134						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAAGCGGTCCCTCACCTCCT	0.587000													174	129					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689061	49689061	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:49689061C>T	ENST00000296452.4	+	5	2186	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	691					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACGGCATCTCTAGCTCCCAG	0.607000													39	152					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634271	84634271	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:84634271C>T	ENST00000262753.4	-	2	334	c.189G>A	c.(187-189)gtG>gtA	p.V63V	POF1B_ENST00000373145.3_Silent_p.V63V	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	63							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCAAGGCCTGCACCACCTTGT	0.527000													26	37					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38975915	38975915	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:38975915G>A	ENST00000269576.5	-	6	1236	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	409	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CGGATATCTGGGCCTGAATCT	0.473000													61	122					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109268393	109268393	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:109268393T>C	ENST00000370017.3	+	6	1155	c.878T>C	c.(877-879)gTg>gCg	p.V293A	FNDC7_ENST00000271311.2_Missense_Mutation_p.V294A	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	294	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCCGGAAGAGTGACGATCCAA	0.448000													42	106					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683201	140683201	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:140683201T>G	ENST00000239451.4	-	1	411	c.232A>C	c.(232-234)Aac>Cac	p.N78H		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	78					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGGACCGAGTTTTCGGCGACG	0.582000													53	107					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073268	220073268	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:220073268C>T	ENST00000409097.1	+	7	705	c.648C>T	c.(646-648)gaC>gaT	p.D216D	ZFAND2B_ENST00000444522.2_Silent_p.D216D|ZFAND2B_ENST00000409217.1_Intron|ZFAND2B_ENST00000409336.1_Intron|ZFAND2B_ENST00000289528.5_Intron|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409594.1_3'UTR			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	0						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCCAAGGACGCTGGTCTTC	0.537000													41	65					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764706	90764706	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:90764706C>T	ENST00000411539.2	+	6	963	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	SEMA4B_ENST00000379122.3_Silent_p.L230L|SEMA4B_ENST00000332496.6_Silent_p.L235L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTCAACTGGCTGCAAGGTGA	0.617000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	5					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1424528	1424528	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:1424528C>A	ENST00000216879.4	-	9	1846	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.D216Y|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D329Y|NSFL1C_ENST00000476071.1_Missense_Mutation_p.D329Y|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D296Y	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	327	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCCGGGCATCCACGATGAAG	0.567000													10	19					9.70103e-10	1.03073e-09	1	1	0
TRMT1	55621	broad.mit.edu	37	19	13221040	13221040	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:13221040G>A	ENST00000592062.1	-	9	1521	c.951C>T	c.(949-951)agC>agT	p.S317S	TRMT1_ENST00000437766.1_Silent_p.S317S|TRMT1_ENST00000357720.4_Silent_p.S317S|TRMT1_ENST00000221504.8_Silent_p.S317S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	317							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGAAGTCAGCGCTGATGCTGA	0.652000													41	25					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743797	179743797	+	Silent	SNP	A	A	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:179743797A>T	ENST00000253778.8	-	12	1288	c.1119T>A	c.(1117-1119)atT>atA	p.I373I	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	373	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTCCACAGCCAATCACGATGA	0.567000													28	15					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665213	138665213	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:138665213C>T	ENST00000330315.3	-	1	769	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	118					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CCGCCGCCCTCGCGCGGCACC	0.612000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						30	38					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109644569	109644569	+	Missense_Mutation	SNP	G	G	A	rs144642580		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:109644569G>A	ENST00000338432.7	+	20	3087	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	ACACB_ENST00000377848.3_Missense_Mutation_p.E990K|ACACB_ENST00000377854.5_Missense_Mutation_p.E990K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	990					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CATCCTCGGAGAGAAACTGCA	0.522000													210	79					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339252	36339252	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:36339252C>T	ENST00000378910.5	-	10	1217	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	NPHS1_ENST00000353632.6_Silent_p.A406A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	406	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCCGCCGCGCCAGGAATG	0.572000													17	95					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105141541	105141541	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:105141541A>G	ENST00000369839.3	+	6	1500	c.1477A>G	c.(1477-1479)Act>Gct	p.T493A	TAF5_ENST00000351396.4_Missense_Mutation_p.T493A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	493					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGCAGATTCAACTGTCAGAGT	0.418000													36	70					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107633	14107633	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:14107633G>C	ENST00000235372.7	+	8	4199	c.3343G>C	c.(3343-3345)Gag>Cag	p.E1115Q	PRDM2_ENST00000343137.4_Missense_Mutation_p.E914Q|PRDM2_ENST00000413440.1_Missense_Mutation_p.E914Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E1115Q|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1115						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCAGGGAAGAGCCCCAGTC	0.418000													24	107					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484269	24484269	+	Missense_Mutation	SNP	G	G	A	rs145001756	byFrequency	TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:24484269G>A	ENST00000327535.1	-	7	926	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IFNLR1_ENST00000374421.3_Missense_Mutation_p.T276M|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GACTCGAGGCGTCGGCCTGAC	0.582000													68	247					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956011	48956011	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:48956011C>T	ENST00000253237.5	+	7	1303	c.1070C>T	c.(1069-1071)aCc>aTc	p.T357I		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	357						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCCCCGTGACCTCCGTCGAG	0.652000													103	44					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1985626	1985626	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:1985626C>T	ENST00000382882.3	-	9	2401	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	NELFA_ENST00000542778.1_Silent_p.P282P|NELFA_ENST00000411638.2_Silent_p.P417P					negative elongation factor complex member A																		CCTGGGTCTGCGGGGCCACCA	0.677000													33	89					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409971	159409971	+	Silent	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:159409971G>T	ENST00000423932.3	+	1	460	c.423G>T	c.(421-423)ctG>ctT	p.L141L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	141					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCAACCCCCTGAGATACATGG	0.478000													127	97					9.56113e-55	1.07604e-54	1	1	0
PELP1	27043	broad.mit.edu	37	17	4578244	4578244	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:4578244G>A	ENST00000301396.4	-	12	1939	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PELP1_ENST00000572293.1_Missense_Mutation_p.R478W|PELP1_ENST00000436683.2_Missense_Mutation_p.R281W|PELP1_ENST00000269230.7_Missense_Mutation_p.R426W|PELP1_ENST00000574876.1_Missense_Mutation_p.R428W			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	428					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ACCTTGGTCCGAACCGTGCTG	0.597000													43	151					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917931	89917931	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:89917931C>T	ENST00000548729.1	-	3	689	c.387G>A	c.(385-387)agG>agA	p.R129R	GALNT4_ENST00000529983.2_Silent_p.R132R|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TAGGAAGTGTCCTATAGTTGA	0.423000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	56					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298729	125298729	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:125298729G>A	ENST00000538699.1	-	2	1259	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	DCAF12L2_ENST00000360028.2_Silent_p.S393S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	393										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCCCGGCATGGAGTCCAGGC	0.607000													80	195					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159460201	159460201	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:159460201G>A	ENST00000367066.3	-	8	1059	c.728C>T	c.(727-729)aCc>aTc	p.T243I	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.T243I|TAGAP_ENST00000326965.6_Missense_Mutation_p.T65I	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	243	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATTCTCCAGGGTGAGCATGTT	0.488000													43	5					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77232204	77232204	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:77232204G>A	ENST00000248248.3	+	6	1993	c.1643G>A	c.(1642-1644)tGa>tAa	p.*548*	MON1B_ENST00000439557.2_Silent_p.*439*|MON1B_ENST00000545553.1_Silent_p.*402*	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	0							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACTGGACTCTGATAGTTGGAG	0.547000													43	97					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111356063	111356063	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:111356063G>A	ENST00000352690.4	+	11	1582	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	CD96_ENST00000283285.5_Missense_Mutation_p.E464K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	464	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATACCTAGTGAAACATACAG	0.398000									Opitz Trigonocephaly syndrome				21	53					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35257366	35257366	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr21:35257366C>G	ENST00000381318.3	+	37	4986	c.4698C>G	c.(4696-4698)atC>atG	p.I1566M	ITSN1_ENST00000437442.2_Missense_Mutation_p.I1505M|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.I1561M|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.I1566M	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1566	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAGAAAATCAAAGCTGCTT	0.502000													10	37					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147544	33147544	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:33147544C>T	ENST00000360668.3	+	4	969	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70C|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74C			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	p.R74C(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTGCAGGCGCCGCCTGCAGCT	0.627000													47	145					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137522831	137522831	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:137522831T>C	ENST00000394894.3	+	19	2628	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	KIF20A_ENST00000508792.1_Missense_Mutation_p.L783P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	801	Globular (Potential).				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGTGAAACTGGACCTTCGG	0.438000													16	26					0	0	1	0	0
PAXIP1-AS2	100132707	broad.mit.edu	37	7	154735818	154735818	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:154735818C>T	ENST00000397551.2	+	3	402	c.270C>T	c.(268-270)ccC>ccT	p.P90P	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_3'UTR|PAXIP1_ENST00000404141.1_3'UTR																							ACAGCCAGCCCCGCACCGCAG	0.532000													9	18					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900821	4900821	+	Silent	SNP	T	T	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:4900821T>A	ENST00000404991.1	-	1	804	c.618A>T	c.(616-618)gtA>gtT	p.V206V	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	206					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTTCATCGGTTACCCGGCAAC	0.393000													14	59					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134106669	134106669	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:134106669G>A	ENST00000452510.2	+	4	585	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	DDX46_ENST00000354283.4_Missense_Mutation_p.E143K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	143					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGGAGGATGAAAAAGAAAA	0.303000													25	21					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779479	18779479	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:18779479C>T	ENST00000300976.4	+	3	1362	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	424										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAACCGAGCCGGCAGCCTGG	0.701000													9	12					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7050046	7050046	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:7050046C>G	ENST00000356654.4	+	8	3455	c.3218C>G	c.(3217-3219)tCt>tGt	p.S1073C	ATN1_ENST00000396684.2_Missense_Mutation_p.S1073C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1073					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTCCAGCCTCTGCCTCGGTG	0.597000													33	108					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646841	57646841	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:57646841G>A	ENST00000269834.1	-	5	1249	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTTCTGCCTGAAGGATTTCT	0.378000													41	139					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110747	2110747	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:2110747G>A	ENST00000355272.6	-	27	3340	c.3134C>T	c.(3133-3135)tCc>tTc	p.S1045F	AP3D1_ENST00000345016.5_Missense_Mutation_p.S983F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S814F|AP3D1_ENST00000356926.4_Missense_Mutation_p.S942F	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	983					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ATCGTGGACGGAGGAGCCCTG	0.677000													29	13					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57752153	57752153	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:57752153G>A	ENST00000269122.3	+	16	2784	c.2510G>A	c.(2509-2511)aGa>aAa	p.R837K	CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000393043.1_Missense_Mutation_p.R837K|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	837	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTGTTGTAAGAGGTCAATTC	0.368000			T	"""ALK, TFE3"""	"""ALCL, renal """								26	84					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995475	32995475	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:32995475C>T	ENST00000330953.5	+	2	729	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	187					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATACCTACTGCAAAACCAAGT	0.498000													23	109					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264876	48264876	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:48264876G>C	ENST00000225964.5	-	46	3510	c.3392C>G	c.(3391-3393)cCc>cGc	p.P1131R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1131	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGCTCCAGAGGGACCTTGTTC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						18	30					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179460079	179460079	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:179460079C>T	ENST00000263966.3	+	12	1946	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	USP13_ENST00000496897.1_Missense_Mutation_p.T427M|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	492					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GTCCGCTACACGGAGAGGGTG	0.507000													39	32					0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139586712	139586712	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:139586712G>A	ENST00000370536.2	-	1	513	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	172					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCGCCCAAGCGCTTGCTGATC	0.597000													38	196					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237049648	237049648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:237049648G>A	ENST00000366577.5	+	27	3226	c.2832G>A	c.(2830-2832)tgG>tgA	p.W944*	MTR_ENST00000535889.1_Nonsense_Mutation_p.W893*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	944	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATGGATTGGCTGTCTGAAC	0.413000													19	23					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828468	61828468	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:61828468C>G	ENST00000280772.2	-	37	12362	c.12171G>C	c.(12169-12171)aaG>aaC	p.K4057N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCTGTTTTCTTATCTCTAG	0.493000													57	105					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010775	86010775	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:86010775G>A	ENST00000383699.3	+	8	1575	c.948G>A	c.(946-948)gcG>gcA	p.A316A	CADM2_ENST00000405615.2_Silent_p.A309A|CADM2_ENST00000407528.2_Silent_p.A307A	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	307					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A309A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAGCAGTGCGGAATATGTTC	0.353000													32	75					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19648240	19648240	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:19648240C>T	ENST00000514277.4	+	7	845	c.807C>T	c.(805-807)ttC>ttT	p.F269F	YJEFN3_ENST00000436027.5_Silent_p.F219F	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3		YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						GCCACCACTTCGTGGCCGGCA	0.716000													18	5					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74725239	74725239	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:74725239C>T	ENST00000460508.3	-	2	856	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	LBX2_ENST00000377566.4_Missense_Mutation_p.A138T|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTGAGCTTGGCTCGCCGGTTC	0.667000													43	22					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80872861	80872861	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:80872861A>G	ENST00000533983.1	+	17	2029	c.1690A>G	c.(1690-1692)Aca>Gca	p.T564A	ARNT2_ENST00000303329.4_Missense_Mutation_p.T575A|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.T564A			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	575					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGTGGCATGGACAGGGAGTCG	0.557000													38	22					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43016551	43016551	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:43016551G>C	ENST00000161559.6	-	6	1461	c.1327C>G	c.(1327-1329)Ctg>Gtg	p.L443V	CEACAM1_ENST00000308072.4_Missense_Mutation_p.L338V|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000352591.5_Missense_Mutation_p.L347V|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.L378V|CEACAM1_ENST00000403444.3_Missense_Mutation_p.L443V|CEACAM1_ENST00000351134.3_Missense_Mutation_p.L169V|CEACAM1_ENST00000403461.1_Missense_Mutation_p.L347V|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.L378V|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	443					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTGCTATCAGAGCAACCAGG	0.512000													20	62					0	0	1	0	0
CCDC103	388389	broad.mit.edu	37	17	42979927	42979927	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:42979927G>A	ENST00000417826.2	+	4	566	c.471G>A	c.(469-471)ccG>ccA	p.P157P	FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Silent_p.P157P|FAM187A_ENST00000331733.4_5'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	157										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				ACGTGGGGCCGGCTGACCGGG	0.642000													50	160					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185606762	185606762	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:185606762G>A	ENST00000314970.6	+	11	1652	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.E406K|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.E278K|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.E407K	NM_152683.2	NP_689896			primase and polymerase (DNA-directed)	407																	TTTCCCAGAAGAATTACTGGT	0.303000													20	85					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119185612	119185612	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:119185612C>T	ENST00000264036.4	-	3	345	c.331G>A	c.(331-333)Gag>Aag	p.E111K	MCAM_ENST00000530144.2_5'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	111	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AAGATGCGCTCGTCTTGGGGG	0.657000													45	45					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067407	190067407	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:190067407C>A	ENST00000367462.3	-	8	2273	c.2042G>T	c.(2041-2043)cGg>cTg	p.R681L	BRINP3_ENST00000534846.1_Missense_Mutation_p.R579L	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	681								p.R681L(1)									AATCAGGTCCCGAATTGCTTC	0.458000													26	155					7.07758e-08	7.39825e-08	1	1	0
PSEN1	5663	broad.mit.edu	37	14	73673092	73673092	+	Splice_Site	SNP	A	A	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:73673092A>C	ENST00000324501.5	+	9	1140		c.e9-1		PSEN1_ENST00000557511.1_Splice_Site|PSEN1_ENST00000357710.4_Splice_Site|PSEN1_ENST00000261970.3_Splice_Site|PSEN1_ENST00000406768.1_Splice_Site|PSEN1_ENST00000344094.3_Splice_Site|PSEN1_ENST00000394164.1_Splice_Site	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1						amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCCAACAGCAACAATGG	0.418000													20	31					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200972877	200972877	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:200972877G>C	ENST00000332129.2	-	8	1365	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.S350*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.S350*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.S350*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	350					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATCTCGGTCTGAGGGGCTCAC	0.567000													38	62					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333528	41333528	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:41333528C>T	ENST00000342595.2	+	2	1278	c.822C>T	c.(820-822)ttC>ttT	p.F274F	NYX_ENST00000378220.1_Silent_p.F274F	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	274					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCGCCTGGTTCGCTGACCTGG	0.721000													19	53					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104905049	104905049	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:104905049T>C	ENST00000533400.1	-	2	195	c.160A>G	c.(160-162)Acc>Gcc	p.T54A	CASP1_ENST00000446369.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.T54A|CASP1_ENST00000393136.4_Missense_Mutation_p.T54A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.T15A|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.T38A|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.T54A|CASP1_ENST00000525825.1_Missense_Mutation_p.T54A|CASP1_ENST00000593315.1_Missense_Mutation_p.T54A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	54	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAAGCTCGGGTCTTATCCATA	0.423000													87	83					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128889334	128889334	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:128889334G>T	ENST00000422453.2	-	5	656	c.496C>A	c.(496-498)Cac>Aac	p.H166N	CNBP_ENST00000451728.2_Missense_Mutation_p.H167N|CNBP_ENST00000446936.2_Missense_Mutation_p.H161N|CNBP_ENST00000500450.2_Missense_Mutation_p.H149N|CNBP_ENST00000502976.1_Missense_Mutation_p.H159N|CNBP_ENST00000441626.2_Missense_Mutation_p.H168N|CNBP_ENST00000504813.1_Missense_Mutation_p.H156N	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	166					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CGTGCAAGGTGCCCTGACTCG	0.428000													60	272					3.94839e-29	4.35266e-29	1	1	0
AKR1C1	1645	broad.mit.edu	37	10	5008253	5008253	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:5008253G>C	ENST00000380872.4	+	2	424	c.232G>C	c.(232-234)Gac>Cac	p.D78H	AKR1C1_ENST00000380859.1_Missense_Mutation_p.D80H|AKR1C1_ENST00000434459.2_Missense_Mutation_p.D78H|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GAAGAGAGAAGACATATTCTA	0.438000													45	56					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127713504	127713504	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:127713504C>G	ENST00000508053.1	-	19	2764	c.1790G>C	c.(1789-1791)aGt>aCt	p.S597T	FBN2_ENST00000508989.1_Missense_Mutation_p.S564T|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.S597T			P35556	FBN2_HUMAN	fibrillin 2	597	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGGAAACTTCCATCTGT	0.403000													55	116					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53215506	53215506	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:53215506G>A	ENST00000394729.2	+	5	751	c.423G>A	c.(421-423)acG>acA	p.T141T	PRKCD_ENST00000330452.3_Silent_p.T141T	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	141					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCCAACGATGAACCGCC	0.537000													17	56					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21981935	21981935	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:21981935T>C	ENST00000261200.4	-	29	3625	c.3626A>G	c.(3625-3627)tAc>tGc	p.Y1209C	ABCC9_ENST00000345162.2_Missense_Mutation_p.Y1173C|ABCC9_ENST00000261201.4_Missense_Mutation_p.Y1209C|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1209	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAAATAAGTAGGCAATGTT	0.433000													25	82					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774633	140774633	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:140774633G>A	ENST00000398604.2	+	1	2253	c.2253G>A	c.(2251-2253)caG>caA	p.Q751Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCCTGCAGACCTATTCCC	0.582000													27	78					0	0	1	0	0
ARMC10	83787	broad.mit.edu	37	7	102732966	102732966	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:102732966C>G	ENST00000323716.3	+	5	963	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	ARMC10_ENST00000425331.1_Missense_Mutation_p.L156V|ARMC10_ENST00000441711.2_Missense_Mutation_p.L156V|ARMC10_ENST00000428183.2_Intron|ARMC10_ENST00000541300.1_Intron|ARMC10_ENST00000454559.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	191					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCTGGTCCTCTGAACTCTGC	0.433000													24	39					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142268453	142268453	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:142268453G>A	ENST00000350721.4	-	15	3160	c.3039C>T	c.(3037-3039)ctC>ctT	p.L1013L	ATR_ENST00000383101.3_Silent_p.L949L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1013					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGTTCGAATGAGAGCAGAAG	0.343000								Other conserved DNA damage response genes					21	30					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212285216	212285216	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:212285216T>C	ENST00000342788.4	-	25	3395	c.3085A>G	c.(3085-3087)Aac>Gac	p.N1029D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N1019D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1029D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1029					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGTGGGATGTTGAAAGCCTGA	0.388000										TSP Lung(8;0.080)			3	41					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94139721	94139721	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:94139721C>T	ENST00000553484.1	+	43	6998	c.6844C>T	c.(6844-6846)Cgt>Tgt	p.R2282C	UNC79_ENST00000256339.4_Missense_Mutation_p.R2083C|UNC79_ENST00000393151.2_Missense_Mutation_p.R2260C|UNC79_ENST00000555664.1_Missense_Mutation_p.R2221C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2260						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTACTTGTCTCGTAGTGTTGT	0.373000													28	52					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821355	159821355	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:159821355G>A	ENST00000408953.3	-	2	1650	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	C5orf54_ENST00000523213.1_Silent_p.F381F	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	381										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttaagtgtttgaataaatctg	0.343000													34	23					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11740484	11740484	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:11740484G>A	ENST00000235310.3	-	5	1013	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	MAD2L2_ENST00000376669.5_Missense_Mutation_p.L29F|MAD2L2_ENST00000376667.3_Missense_Mutation_p.L29F|MAD2L2_ENST00000376692.4_Missense_Mutation_p.L29F|MAD2L2_ENST00000376672.1_Missense_Mutation_p.L29F			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	29	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAGGATGAGATGCACAGCC	0.652000								DNA polymerases (catalytic subunits)					136	142					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649376	69649376	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:69649376G>C	ENST00000453994.2	+	11	1331	c.970G>C	c.(970-972)Ggc>Cgc	p.G324R	GDPD2_ENST00000538649.1_Missense_Mutation_p.G245R|GDPD2_ENST00000536730.1_Missense_Mutation_p.G245R|GDPD2_ENST00000374382.3_Missense_Mutation_p.G324R|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	324	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACCGCTGGCAGGCCCTGATCA	0.527000													22	65					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42671493	42671493	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:42671493C>G	ENST00000372572.1	-	8	881	c.570G>C	c.(568-570)atG>atC	p.M190I	FOXJ3_ENST00000361346.1_Missense_Mutation_p.M190I|FOXJ3_ENST00000545068.1_Missense_Mutation_p.M190I|FOXJ3_ENST00000372573.1_Missense_Mutation_p.M190I|FOXJ3_ENST00000361776.1_Intron	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	190					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAATACACTCCATTCCCAAAG	0.323000													27	16					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211068063	211068063	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:211068063G>A	ENST00000233710.3	-	8	1203	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	326					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACCTGTAGGTGAGCAACTGTT	0.368000													6	15					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62541904	62541904	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:62541904A>G	ENST00000430451.2	+	3	985	c.788A>G	c.(787-789)gAa>gGa	p.E263G	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E263G	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	263										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCTACGGTGAAGATGACCAC	0.463000													16	6					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427386	78427386	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:78427386T>A	ENST00000276077.1	+	1	918	c.882T>A	c.(880-882)ttT>ttA	p.F294L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	294						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TATACTACTTTTCCACTAATG	0.413000										HNSCC(63;0.18)			26	87					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11617241	11617241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:11617241C>A	ENST00000270517.7	-	8	1189	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000592312.1_3'UTR|ECSIT_ENST00000417981.2_Nonsense_Mutation_p.E138*|ECSIT_ENST00000588998.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	352					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGGCCTTCCTCCACTGTTGGA	0.572000													45	46					4.86159e-25	5.32303e-25	1	1	0
PRKAA1	5562	broad.mit.edu	37	5	40775549	40775549	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:40775549C>A	ENST00000397128.2	-	3	334	c.326G>T	c.(325-327)gGa>gTa	p.G109V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.G109V|PRKAA1_ENST00000296800.4_Missense_Mutation_p.G100V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	109	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TAGCTCTCCTCCTGAGACATA	0.353000													11	46					0.0135373	0.0135793	1	1	0
LRRC17	10234	broad.mit.edu	37	7	102585038	102585038	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:102585038T>C	ENST00000339431.4	+	4	1605	c.1310T>C	c.(1309-1311)aTt>aCt	p.I437T	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	437					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGCGTAATAATTACTATAGTA	0.318000													29	20					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340564	39340564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:39340564G>A	ENST00000454994.2	-	2	1483	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.Q403*|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Nonsense_Mutation_p.Q403*			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	403					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGGGGTGACTGCCTCATGTTG	0.473000													20	60					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12172715	12172715	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:12172715G>A	ENST00000566228.1	+	11	1414	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	SNX29_ENST00000306030.3_Missense_Mutation_p.G64R|SNX29_ENST00000323433.4_Missense_Mutation_p.G64R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	64					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCCAGGCCACGGAAGTCCTCT	0.527000													6	19					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016438	23016438	+	Silent	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:23016438G>T	ENST00000255008.3	+	1	382	c.318G>T	c.(316-318)tcG>tcT	p.S106S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	106					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGCCTCGTCGGCCGCCCTGC	0.642000													106	155					9.453e-31	1.04566e-30	1	1	0
DUOXA1	90527	broad.mit.edu	37	15	45414398	45414398	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:45414398C>G	ENST00000558996.1	-	3	244	c.190G>C	c.(190-192)Ggg>Cgg	p.G64R	DUOXA1_ENST00000558422.1_Missense_Mutation_p.G64R|DUOXA1_ENST00000430224.2_Missense_Mutation_p.G64R|DUOXA1_ENST00000267803.4_Missense_Mutation_p.G64R|DUOXA1_ENST00000560572.1_Missense_Mutation_p.G64R|DUOXA1_ENST00000559014.1_Missense_Mutation_p.G64R	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	64					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		ATTGCAGCCCCGATGAATAAG	0.557000													3	11					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50238345	50238345	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr14:50238345C>T	ENST00000298307.5	+	2	1048	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.L63L|KLHDC2_ENST00000557247.1_Silent_p.L63L	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	63						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGACTTTTATCTGCCTAGAGA	0.323000													16	53					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968912	102968912	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:102968912C>G	ENST00000319560.6	+	3	684	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	165						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						tgtcttcattctgatcttctt	0.378000													3	20					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750483	94750483	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:94750483G>T	ENST00000306011.3	+	1	442	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	136					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGGCGGGGTGGTGGTAGACGA	0.667000													21	60					2.89027e-11	3.10152e-11	1	1	0
PLA2G4B	100137049	broad.mit.edu	37	15	42136675	42136675	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:42136675G>T	ENST00000542534.2	+	17	1619	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.V296L|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.V527L|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.V296L|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.V527L	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCAGATCCCAGTGGTAGCTAT	0.587000													104	161					2.608e-42	2.91482e-42	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173848	51173848	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:51173848A>T	ENST00000440970.1	-	2	2425	c.1994T>A	c.(1993-1995)cTc>cAc	p.L665H	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L762H	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	762					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)			CTGGACTCTGAGCGGGGGCAT	0.552000													54	4					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590161	103590161	+	Missense_Mutation	SNP	G	G	C	rs121434336		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:103590161G>C	ENST00000226578.4	-	10	1375	c.1276C>G	c.(1276-1278)Cag>Gag	p.Q426E	MANBA_ENST00000505239.1_Missense_Mutation_p.Q369E	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	426					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGGAAGCCCTGATCAGTTGGA	0.373000													8	16					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30915379	30915379	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:30915379G>A	ENST00000375712.3	+	7	2050	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	KIF3B_ENST00000418717.2_Missense_Mutation_p.R254Q	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	628	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGATGAAGCGGCCAGTCTCA	0.522000													32	164					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782371	35782371	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:35782371C>T	ENST00000360215.1	+	2	838	c.461C>T	c.(460-462)tCa>tTa	p.S154L	LHFPL5_ENST00000373853.1_Missense_Mutation_p.S154L|LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	154						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGTTGGGACTCAAGTGAGGTG	0.632000													38	102					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580665	82580665	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:82580665C>T	ENST00000333891.9	-	6	9576	c.9239G>A	c.(9238-9240)aGt>aAt	p.S3080N	PCLO_ENST00000423517.2_Missense_Mutation_p.S3080N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						CCTCAAAACACTCCCCACACA	0.478000													6	10					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53387303	53387303	+	Silent	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:53387303G>T	ENST00000371522.4	-	1	136	c.43C>A	c.(43-45)Cgg>Agg	p.R15R	ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Silent_p.R15R|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	15					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCGCGGGCCCGAAGGGGCCTC	0.731000													7	13					0.00307968	0.0031183	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60642719	60642719	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr18:60642719C>A	ENST00000400316.4	+	16	4090	c.2309C>A	c.(2308-2310)aCc>aAc	p.T770N	PHLPP1_ENST00000262719.5_Missense_Mutation_p.T1282N	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1282					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GGATCCTTCACCTTGACCTCT	0.512000													123	10					1.02559e-39	1.14229e-39	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928230	92928230	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:92928230G>A	ENST00000373079.3	-	1	337	c.74C>T	c.(73-75)tCg>tTg	p.S25L	NAP1L3_ENST00000475430.2_Missense_Mutation_p.S18L	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	25	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATCACTAGTCGAGCTAGCCAT	0.547000													19	68					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140419753	140419753	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:140419753G>A	ENST00000286349.3	+	5	2300	c.2109G>A	c.(2107-2109)ggG>ggA	p.G703G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	703						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGGACATGGGAAGAACCGAG	0.532000													11	68					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19031967	19031967	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:19031967G>A	ENST00000379878.3	-	15	1129	c.888C>T	c.(886-888)tcC>tcT	p.S296S	GPR64_ENST00000360279.4_Silent_p.S290S|GPR64_ENST00000379869.3_Silent_p.S312S|GPR64_ENST00000357544.3_Silent_p.S282S|GPR64_ENST00000356606.4_Silent_p.S298S|GPR64_ENST00000340581.3_Silent_p.S282S|GPR64_ENST00000354791.3_Silent_p.S296S|GPR64_ENST00000379873.2_Silent_p.S312S|GPR64_ENST00000357991.3_Silent_p.S309S|GPR64_ENST00000379876.1_Silent_p.S288S	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	312					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGGCAGGGCTGGAAGCTATGG	0.542000													78	213					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73346875	73346875	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr13:73346875C>G	ENST00000377767.4	-	9	1442	c.1342G>C	c.(1342-1344)Gtt>Ctt	p.V448L	DIS3_ENST00000377780.4_Missense_Mutation_p.V418L|DIS3_ENST00000545453.1_Missense_Mutation_p.V286L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	448					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAACTAAGAACAGCCTGTGAA	0.363000										Multiple Myeloma(4;0.011)			32	25					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70066589	70066589	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:70066589T>C	ENST00000358769.2	-	2	215	c.13A>G	c.(13-15)Att>Gtt	p.I5V	PBLD_ENST00000309049.4_Missense_Mutation_p.I5V|PBLD_ENST00000495025.2_Missense_Mutation_p.I5V|PBLD_ENST00000432941.1_Missense_Mutation_p.I5V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	5					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTATGAAAATAGGAAGCTTC	0.393000													19	38					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242206223	242206223	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:242206223G>A	ENST00000391975.1	-	3	289	c.62C>T	c.(61-63)cCg>cTg	p.P21L	HDLBP_ENST00000427183.2_Missense_Mutation_p.P57L|HDLBP_ENST00000310931.4_Missense_Mutation_p.P21L|HDLBP_ENST00000391976.2_Missense_Mutation_p.P21L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	21					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATTTGTTGCGGAACCAGCCC	0.473000													26	29					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886420	3886420	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:3886420G>A	ENST00000319331.3	+	2	856	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	32	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAGTGAGTGTCCACAACTT	0.468000													28	75					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164536	111164536	+	Nonstop_Mutation	SNP	T	T	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr13:111164536T>G	ENST00000360467.5	+	48	5443	c.5137T>G	c.(5137-5139)Tga>Gga	p.*1713G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	0					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGAACCTGTGAGCCGGCGC	0.527000													17	13					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120941811	120941811	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:120941811G>C	ENST00000288532.6	-	6	884	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	COQ5_ENST00000445328.2_Missense_Mutation_p.Q208E	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	282					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGGTACTGATAGGACTTC	0.448000													78	212					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72873956	72873956	+	Silent	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:72873956A>G	ENST00000339594.4	-	13	3680	c.3342T>C	c.(3340-3342)gcT>gcC	p.A1114A	BAZ1B_ENST00000404251.1_Silent_p.A1114A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1114					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTGCTTGGGAGCCATGAAGC	0.393000													62	29					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645245	113645245	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:113645245C>G	ENST00000546692.1	-	2	1100	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	IQCD_ENST00000299732.2_Missense_Mutation_p.E243Q|IQCD_ENST00000416617.2_Missense_Mutation_p.E243Q			Q96DY2	IQCD_HUMAN	IQ motif containing D	243										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AACAATACCTCTGCATTCCTG	0.343000													20	68					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993968	144993968	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:144993968G>C	ENST00000322810.4	-	32	10601	c.10432C>G	c.(10432-10434)Ctt>Gtt	p.L3478V	PLEC_ENST00000357649.2_Missense_Mutation_p.L3345V|PLEC_ENST00000436759.2_Missense_Mutation_p.L3368V|PLEC_ENST00000345136.3_Missense_Mutation_p.L3341V|PLEC_ENST00000527096.1_Missense_Mutation_p.L3364V|PLEC_ENST00000398774.2_Missense_Mutation_p.L3309V|PLEC_ENST00000354589.3_Missense_Mutation_p.L3341V|PLEC_ENST00000354958.2_Missense_Mutation_p.L3319V|PLEC_ENST00000356346.3_Missense_Mutation_p.L3327V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3478	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCGAAAGGTCCTTGACC	0.657000													22	52					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	C	T	rs147635537		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGCGAGCCCCCTG	0.493000													6	591					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								149	2					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981312	6981312	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:6981312C>T	ENST00000519357.1	-	2	940	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SPSB2_ENST00000523102.1_Intron|SPSB2_ENST00000524270.1_Intron			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	8	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GATGAAGGTCCATCCCCTCTG	0.522000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	97					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102176676	102176676	+	Silent	SNP	T	T	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:102176676T>G	ENST00000306176.1	+	5	709	c.609T>G	c.(607-609)acT>acG	p.T203T	ZPLD1_ENST00000466937.1_Silent_p.T187T|ZPLD1_ENST00000491959.1_Silent_p.T187T	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	187	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTGTCAGCACTTTGAACCTGC	0.363000													5	163					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121412633	121412633	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:121412633G>C	ENST00000231004.4	-	2	994	c.695C>G	c.(694-696)tCc>tGc	p.S232C	LOX_ENST00000513319.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	232	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTTGTACATGGACATCTTCTG	0.617000											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	29					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289717	31289717	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr22:31289717G>A	ENST00000332585.6	+	11	2291	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R	OSBP2_ENST00000403222.3_Silent_p.R563R|OSBP2_ENST00000407373.1_Silent_p.R556R|OSBP2_ENST00000446658.2_Silent_p.R728R|OSBP2_ENST00000382310.3_Silent_p.R680R|OSBP2_ENST00000437268.2_Silent_p.R471R|OSBP2_ENST00000535268.1_Silent_p.R273R|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000401475.1_Silent_p.R362R	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	729					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGGCAGCCCGGAAGGTAAGCA	0.587000													18	56					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95546198	95546198	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:95546198T>C	ENST00000325542.5	+	3	543	c.305T>C	c.(304-306)aTt>aCt	p.I102T	CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000541150.1_Missense_Mutation_p.I93T|CEP57_ENST00000325486.5_Missense_Mutation_p.I102T|CEP57_ENST00000537677.1_Missense_Mutation_p.I75T|CEP57_ENST00000538658.1_Missense_Mutation_p.I102T	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	102	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAGAAACAATTGAATATAAG	0.338000									Mosaic Variegated Aneuploidy Syndrome				16	25					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936382	30936382	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:30936382G>A	ENST00000355537.3	+	2	2060	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GACTGCGGCCGGGTGTTCCGC	0.632000													119	203					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	211956838	211956838	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:211956838A>T	ENST00000366997.4	-	5	686	c.460T>A	c.(460-462)Tct>Act	p.S154T	LPGAT1_ENST00000366996.1_Missense_Mutation_p.S154T	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	154					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCACGATAAGATCTTCCCTAG	0.358000													23	57					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26247473	26247473	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr22:26247473G>A	ENST00000335473.7	+	21	4062	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1271Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R1272Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1271	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGCTTCCGCCGGCAATTCCAG	0.582000													5	5					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													4	74					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825861	146825861	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:146825861G>A	ENST00000361727.3	+	7	1532	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	339	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCATGGAAAGCATCAACTAC	0.408000										HNSCC(39;0.1)			6	133					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457666	25457666	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:25457666C>T	ENST00000278886.6	-	17	2334	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	754					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGGTCTCTGCGAGCGGGCAG	0.687000													11	19					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136088	66136088	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:66136088G>T	ENST00000357440.2	-	5	698	c.470C>A	c.(469-471)tCc>tAc	p.S157Y	SLC29A2_ENST00000546034.1_Missense_Mutation_p.S157Y|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S157Y|SLC29A2_ENST00000311161.7_Missense_Mutation_p.S157Y	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	157					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTGTAGGTGGAGGGCATGGT	0.632000													9	18					0.000673444	0.000686191	1	1	0
MTERFD3	80298	broad.mit.edu	37	12	107372404	107372404	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:107372404A>G	ENST00000552029.1	-	2	2157	c.89T>C	c.(88-90)tTa>tCa	p.L30S	MTERFD3_ENST00000240050.4_Missense_Mutation_p.L30S|MTERFD3_ENST00000392830.2_Missense_Mutation_p.L30S|C12orf23_ENST00000551237.1_3'UTR			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GAAGCATGCTAAGAAAGGTCT	0.413000													25	54					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32600275	32600275	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:32600275C>T	ENST00000520407.1	+	5	1488	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Silent_p.L294L|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000539990.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTTCTGTCTCTGCCTGAATA	0.463000													53	88					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32629011	32629011	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr22:32629011T>A	ENST00000266086.4	-	9	907	c.896A>T	c.(895-897)cAg>cTg	p.Q299L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	299					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGGCAGCGCTGCACAATGAC	0.532000													3	28					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50967791	50967791	+	Splice_Site	SNP	T	T	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:50967791T>G	ENST00000357701.5	+	27	3466		c.e27+2			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTCCGAGGTGAGGGCGTGG	0.697000													8	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31342656	31342656	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:31342656C>A	ENST00000542188.1	-	11	1757	c.1444G>T	c.(1444-1446)Gtg>Ttg	p.V482L	TRPM1_ENST00000397795.2_Missense_Mutation_p.V443L|TRPM1_ENST00000256552.6_Missense_Mutation_p.V465L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	443					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcttcctccacttcctctttc	0.542000													15	26					2.32078e-09	2.45775e-09	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45860781	45860781	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:45860781G>A	ENST00000391945.4	-	14	1405	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A365V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	443	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGGTTTGATGGCCAGCGAGGC	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				66	55					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059562	141059562	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:141059562G>A	ENST00000239440.4	-	2	557	c.492C>T	c.(490-492)gaC>gaT	p.D164D	ARAP3_ENST00000508305.1_Silent_p.D86D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	164					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCCTCTTGAGTCCAGGCCGA	0.587000													66	135					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135180409	135180409	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:135180409C>T	ENST00000409645.1	+	14	1965	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	MGAT5_ENST00000281923.2_Silent_p.I571I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	571					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGTTTTCATCGGGCGGCCAC	0.433000													31	65					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216781	45216781	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:45216781G>A	ENST00000279027.4	-	8	1056	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SLC13A3_ENST00000290317.5_Silent_p.F299F|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Silent_p.F299F|SLC13A3_ENST00000413164.2_Silent_p.F296F|SLC13A3_ENST00000372121.1_Silent_p.F296F|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000472148.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	346						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGAAAAGGATGAAAACAGCCT	0.597000													18	41					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68753371	68753371	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:68753371C>T	ENST00000303795.4	+	6	972	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	267					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CCATTTCATCCAAGGTGATTT	0.303000													16	43					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199433	178199433	+	RNA	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:178199433G>T	ENST00000503486.2	-	0	1102					NR_024035.1																						GTCATACCGCGATGCCCTTGG	0.597000													14	8					1.49906e-05	1.53713e-05	1	1	0
HPS1	3257	broad.mit.edu	37	10	100177393	100177393	+	Silent	SNP	A	A	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:100177393A>C	ENST00000325103.6	-	20	2264	c.2031T>G	c.(2029-2031)acT>acG	p.T677T	HPS1_ENST00000361490.4_Silent_p.T677T|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	677					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCAGCAGGTCAGTGGGGATGA	0.667000									Hermansky-Pudlak syndrome				14	40					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14817516	14817516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:14817516C>T	ENST00000292530.6	+	7	533	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	ZNF333_ENST00000540689.2_Nonsense_Mutation_p.Q148*|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q39*|ZNF333_ENST00000601134.1_Missense_Mutation_p.A88V	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGCCGCTATGCAGATTCAGAG	0.587000													4	88					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4152939	4152939	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr7:4152939G>A	ENST00000404826.2	+	24	3592	c.3453G>A	c.(3451-3453)gtG>gtA	p.V1151V	SDK1_ENST00000389531.3_Silent_p.V1151V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1151	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.V1151V(1)		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)		TGAAGCAAGTGAACATTGTTG	0.537000													109	187					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300491	12300491	+	Splice_Site	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:12300491C>G	ENST00000261349.4	-	15	3283		c.e15-1		LRP6_ENST00000543091.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATACATATACCTAGAGGGAAA	0.368000													47	115					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154474266	154474266	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:154474266G>A	ENST00000304760.2	-	1	323	c.237C>T	c.(235-237)ggC>ggT	p.G79G		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	79										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCGGCCCTTGCCAGGACCCG	0.736000													3	19					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15761204	15761204	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:15761204G>A	ENST00000396355.1	+	4	971	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	NDE1_ENST00000342673.5_Missense_Mutation_p.E49K|NDE1_ENST00000396354.1_Missense_Mutation_p.E49K|NDE1_ENST00000396353.2_Missense_Mutation_p.E49K	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	49	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATATGAAGCTGAATTGGAGAC	0.458000													37	72					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714766	52714766	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:52714766G>A	ENST00000293670.3	-	1	416	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	118	Coil 1A.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCTGCTGTTGAGGGACTTGA	0.587000													68	223					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764281	90764281	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:90764281G>A	ENST00000411539.2	+	5	811	c.551G>A	c.(550-552)cGt>cAt	p.R184H	SEMA4B_ENST00000379122.3_Missense_Mutation_p.R179H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R184H	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGCAAGGGCCGTTGTCCCTTC	0.582000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	11					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122478157	122478157	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:122478157A>T	ENST00000383659.1	-	4	605	c.483T>A	c.(481-483)agT>agA	p.S161R	HSPBAP1_ENST00000306103.2_Missense_Mutation_p.S161R|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	161	Interaction with HSPB1 (By similarity).|JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCCACAATGTACTTTCCTGTC	0.443000													13	139					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946301	38946301	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:38946301C>G	ENST00000355481.4	+	16	1832	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	RYR1_ENST00000360985.3_Silent_p.L567L|RYR1_ENST00000359596.3_Silent_p.L567L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	567					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)	ACTGTGTCCTCATTGAGAGTC	0.577000													15	97					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357493	67357493	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:67357493G>T	ENST00000396623.3	+	6	425	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	ADHFE1_ENST00000415254.1_Missense_Mutation_p.D84Y|ADHFE1_ENST00000379385.4_Missense_Mutation_p.D132Y|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	132					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGGAGCTTTTGATGCCTATGT	0.418000													27	44					7.07758e-08	7.39825e-08	1	1	0
SBF2	81846	broad.mit.edu	37	11	9871579	9871579	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:9871579C>A	ENST00000256190.8	-	22	2934	c.2797G>T	c.(2797-2799)Gat>Tat	p.D933Y	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	933	GRAM.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCTAACTGATCATGGGGTGTT	0.483000													85	7					9.79205e-48	1.09821e-47	1	1	0
FBXW8	26259	broad.mit.edu	37	12	117402575	117402575	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:117402575G>A	ENST00000455858.2	+	5	626	c.553G>A	c.(553-555)Gac>Aac	p.D185N	FBXW8_ENST00000309909.5_Missense_Mutation_p.D251N	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	251							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGAATCAGAGGACGAGGAGGA	0.522000													63	190					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41889508	41889508	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:41889508G>A	ENST00000230340.4	+	1	583	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	70					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGGAACTCGAGGCCGAGCA	0.682000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	48					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48648027	48648027	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:48648027T>A	ENST00000518074.1	+	19	2755	c.2584T>A	c.(2584-2586)Tct>Act	p.S862T	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR	NM_001282919.1	NP_001269848.1			scaffolding protein involved in DNA repair																		TGCCGCAGGATCTGTGAACTT	0.522000													18	17					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232409	32232409	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr20:32232409C>G	ENST00000492345.1	+	13	2370	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	CBFA2T2_ENST00000543126.1_Nonsense_Mutation_p.S139*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.S562*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.S601*|CBFA2T2_ENST00000346541.3_Nonsense_Mutation_p.S591*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.S582*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.S591*			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	591						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCGCGTTCCTCAACACCTGCT	0.632000													9	323					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110824155	110824155	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:110824155A>G	ENST00000455511.3	-	6	896	c.896T>C	c.(895-897)aTg>aCg	p.M299T	ANAPC7_ENST00000450008.2_Missense_Mutation_p.M299T	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGGATCCAACATCTGTGCCTG	0.438000													256	125					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950124	118950124	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr9:118950124G>A	ENST00000328252.3	+	2	1476	c.1107G>A	c.(1105-1107)acG>acA	p.T369T		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	369	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGAACCCGACGGTGACGCGCG	0.562000													32	3					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170929	113170929	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr9:113170929C>G	ENST00000401783.2	-	38	7287	c.6951G>C	c.(6949-6951)aaG>aaC	p.K2317N	SVEP1_ENST00000374469.1_Missense_Mutation_p.K2294N|SVEP1_ENST00000297826.5_Missense_Mutation_p.K243N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2317	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGCATGCACTTTGGATTTG	0.453000													29	24					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645910	215645910	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:215645910C>T	ENST00000260947.4	-	4	822	c.688G>A	c.(688-690)Gac>Aac	p.D230N	BARD1_ENST00000449967.2_Missense_Mutation_p.D86N|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	230					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTTGGAGTCAAATTCACCA	0.368000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	28					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211157	59211157	+	Silent	SNP	C	C	T	rs150991894		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547000													5	359					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95141087	95141087	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:95141087C>T	ENST00000371501.4	-	20	1887	c.1765G>A	c.(1765-1767)Gtt>Att	p.V589I	MYOF_ENST00000358334.5_Missense_Mutation_p.V576I|MYOF_ENST00000371502.4_Missense_Mutation_p.V589I|MYOF_ENST00000359263.4_Missense_Mutation_p.V589I			Q9NZM1	MYOF_HUMAN	myoferlin	589					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCTCACCAACATCTTGCAAC	0.468000													29	66					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886599	39886599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:39886599C>T	ENST00000260356.5	+	21	3628	c.3463C>T	c.(3463-3465)Caa>Taa	p.Q1155*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1155	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGTCTTCTCTCAAGAAATGGT	0.408000													41	4					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697755	17697755	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:17697755C>G	ENST00000353383.1	+	3	1962	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.S498*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	498						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACACCGCTGTCAGAGCCGCCG	0.667000													11	34					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569929	30569929	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:30569929C>T	ENST00000376511.2	-	19	3049	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	833	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCAGGGCCTTCGTGGGGGCGA	0.682000													68	227					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312523	205312523	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:205312523C>T	ENST00000367156.3	-	5	1026	c.210G>A	c.(208-210)gcG>gcA	p.A70A	KLHDC8A_ENST00000539253.1_Silent_p.A70A|KLHDC8A_ENST00000367155.3_Silent_p.A70A|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	70										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGGCCACCCCCGCCCGGGCTG	0.672000													65	87					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181362	68181362	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:68181362C>T	ENST00000294304.7	+	12	2815	c.2709C>T	c.(2707-2709)ctC>ctT	p.L903L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	903	Beta-propeller 3.|EGF-like 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGATGGCCTCAATGACTGTA	0.652000													20	75					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839430	27839430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:27839430C>T	ENST00000356790.2	+	3	252	c.7C>T	c.(7-9)Cga>Tga	p.R3*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	3										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CATCATGCCTCGAGGTCAGAA	0.527000													22	73					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205340	14205340	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:14205340G>A	ENST00000360954.2	+	1	941	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	169	Substrate binding (By similarity).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTGGGCGCCGAGCCCCATTT	0.667000													8	16					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928434	69928434	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:69928434T>G	ENST00000352241.4	+	2	417	c.254T>G	c.(253-255)tTc>tGc	p.F85C	MITF_ENST00000448226.2_Missense_Mutation_p.F85C|MITF_ENST00000328528.6_Missense_Mutation_p.F84C|MITF_ENST00000394355.2_Missense_Mutation_p.F60C|MITF_ENST00000472437.1_Missense_Mutation_p.F33C|MITF_ENST00000314589.5_Missense_Mutation_p.F69C	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	85					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCGGCCCAGTTCATGCAACAG	0.587000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						21	81					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782750	24782750	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:24782750G>A	ENST00000003912.3	+	9	1229	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	NIPAL3_ENST00000374399.4_Missense_Mutation_p.V254I|NIPAL3_ENST00000339255.2_Missense_Mutation_p.V254I			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	254						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGCAACCGCCGTCTATCAGGC	0.552000													139	440					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653596	6653596	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:6653596G>A	ENST00000377658.4	-	4	1674	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_ENST00000467612.1_Silent_p.S174S|KLHL21_ENST00000377663.3_3'UTR	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	541					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612000													24	76					0	0	1	0	0
TANK	10010	broad.mit.edu	37	2	162091940	162091940	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:162091940G>A	ENST00000392749.2	+	8	1428	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	TANK_ENST00000405852.1_3'UTR|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.E397K	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	397						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCGAGTATGTGAATTCTGTCA	0.448000													32	100					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652651	211652651	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:211652651C>T	ENST00000367002.4	-	3	1478	c.315G>A	c.(313-315)gcG>gcA	p.A105A	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	105					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTCCTGCTCCGCCAGCAGCT	0.687000													13	12					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96098472	96098472	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:96098472G>T	ENST00000371361.3	-	18	2084	c.1984C>A	c.(1984-1986)Ctg>Atg	p.L662M	NOC3L_ENST00000543788.1_Missense_Mutation_p.L400M|NOC3L_ENST00000371350.1_Missense_Mutation_p.L662M	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	662						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTGTCAAGCAGTAGATCTGTT	0.398000													23	46					3.5997e-14	3.87568e-14	1	1	0
DLC1	10395	broad.mit.edu	37	8	12958112	12958112	+	Silent	SNP	G	G	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr8:12958112G>A	ENST00000276297.4	-	9	2143	c.1734C>T	c.(1732-1734)ccC>ccT	p.P578P	DLC1_ENST00000512044.2_Silent_p.P175P|DLC1_ENST00000358919.2_Silent_p.P141P|DLC1_ENST00000520226.1_Silent_p.P67P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	578					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCGTGCCTCCGGGGCTGGGGC	0.662000													31	23					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294877	62294877	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:62294877C>G	ENST00000378024.4	-	5	7286	c.7012G>C	c.(7012-7014)Gag>Cag	p.E2338Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2338					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTCTCCCTCCAGCTTTGGG	0.453000													72	237					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3339931	3339931	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:3339931C>G	ENST00000219069.5	+	6	2301	c.1425C>G	c.(1423-1425)tcC>tcG	p.S475S	ZNF263_ENST00000538765.1_Silent_p.S123S	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	475					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCTGCAACTCCAACCTCCACA	0.557000													29	26					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228403354	228403354	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr1:228403354C>T	ENST00000570156.2	+	6	1993	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	OBSCN_ENST00000284548.11_Missense_Mutation_p.S640L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S640L|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	640	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGTGGCCTCAGCGGGTGAG	0.662000													11	3					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3445955	3445955	+	Silent	SNP	C	C	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:3445955C>G	ENST00000301365.4	-	6	635	c.504G>C	c.(502-504)ggG>ggC	p.G168G	TRPV3_ENST00000576742.1_Silent_p.G168G|TRPV3_ENST00000572519.1_Silent_p.G168G			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	168						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCAGGTCTTCCCCGTGTCGG	0.602000													46	1					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53561612	53561612	+	Silent	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:53561612C>T	ENST00000342160.3	-	81	13153	c.12696G>A	c.(12694-12696)gaG>gaA	p.E4232E	HUWE1_ENST00000262854.6_Silent_p.E4232E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4232	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGGAATGATCTCATAGAAGC	0.463000													17	60					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840122	150840122	+	Silent	SNP	A	A	G			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:150840122A>G	ENST00000370357.4	+	13	1553	c.1308A>G	c.(1306-1308)aaA>aaG	p.K436K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	436						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACAACAGAAACAACACGCTG	0.483000													61	166					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76677108	76677108	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr17:76677108C>T	ENST00000589297.1	-	12	1423	c.731G>A	c.(730-732)gGa>gAa	p.G244E	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.G303E|CYTH1_ENST00000585509.1_Missense_Mutation_p.G244E|CYTH1_ENST00000446868.3_Missense_Mutation_p.G303E|CYTH1_ENST00000591455.1_Missense_Mutation_p.G302E			Q15438	CYH1_HUMAN	cytohesin 1	303					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.G303V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGGATGATTCCACGGGGCTC	0.468000													48	138					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267047	48267047	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:48267047A>C	ENST00000302329.3	+	1	440	c.392A>C	c.(391-393)cAg>cCg	p.Q131P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGAACTGGCAGGTGTGTACT	0.507000													9	123					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954464	119954464	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:119954464C>T	ENST00000327554.2	+	8	1385	c.920C>T	c.(919-921)gCc>gTc	p.A307V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	307										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CGGGAAGATGCCCGGAGGACA	0.483000													4	101					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259991	90259991	+	RNA	DEL	T	T	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr2:90259991delT	ENST00000471857.1	+	0	275																											GTCTCCATCCTTACTCTCTGC	0.428													49	55	---	---	---	---					
TTLL3	26140	broad.mit.edu	37	3	9877083	9877083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:9877083delG	ENST00000547186.1	+	13	2445	c.2229delG	c.(2227-2229)gtgfs	p.V743fs	TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.V886fs|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	743					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGAAACAAGTGAAGTATTTGG	0.567													123	171	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													4	8	---	---	---	---					
FAM90A26	100287045	broad.mit.edu	37	4	9175671	9175671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr4:9175671delG	ENST00000512047.1	+	5	813	c.279delG	c.(277-279)ccgfs	p.P93fs	FAM90A26_ENST00000432515.1_Frame_Shift_Del_p.P93fs																							AAGCAAACCCGGGGCCCTTGA	0.547													2	4	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	8	---	---	---	---					
OR2V2	285659	broad.mit.edu	37	5	180582803	180582803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr5:180582803delC	ENST00000328275.1	+	1	861	c.861delC	c.(859-861)aacfs	p.N287fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATGCTCAACCCCCTCATTT	0.607													51	36	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													2	4	---	---	---	---					
GADD45G	10912	broad.mit.edu	37	9	92220919	92220919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr9:92220919delG	ENST00000252506.6	+	4	514	c.405delG	c.(403-405)ttgfs	p.L135fs	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Frame_Shift_Del_p.L117fs	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	135					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						ATCCCGCCTTGGAGAAGCTCA	0.677													24	0	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													4	5	---	---	---	---					
CPEB3	22849	broad.mit.edu	37	10	93999375	93999385	+	Frame_Shift_Del	DEL	GCGTGTTCCAG	GCGTGTTCCAG	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr10:93999375_93999385delGCGTGTTCCAG	ENST00000412050.4	-	2	811_821	c.723_733delCTGGAACACGC	c.(721-735)agctggaacacgcacfs	p.SWNTH241fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.SWNTH241fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	241							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACGCTTTGGTGCGTGTTCCAGCTGGACGAGG	0.725													4	5	---	---	---	---					
TRMT112	51504	broad.mit.edu	37	11	64084953	64084953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr11:64084953delC	ENST00000544844.1	-	1	603	c.46delG	c.(46-48)gtgfs	p.V16fs	TRMT112_ENST00000535126.1_Frame_Shift_Del_p.G4fs|TRMT112_ENST00000535750.1_5'UTR|TRMT112_ENST00000308774.2_Frame_Shift_Del_p.V16fs|TRMT112_ENST00000539854.1_Frame_Shift_Del_p.V16fs			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	16	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						CGGGACCCCACCCCCCGCACA	0.657													8	20	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													7	483	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	6	---	---	---	---					
RRN3P3	100131998	broad.mit.edu	37	16	22448855	22448879	+	RNA	DEL	CCGCCTCGGGCGGGCCGAGGCCTAG	CCGCCTCGGGCGGGCCGAGGCCTAG	-	rs142570923	by1000genomes	TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:22448855_22448879delCCGCCTCGGGCGGGCCGAGGCCTAG	ENST00000551766.1	-	0	157_181					NR_027460.1																						CTCCCGGGCTCCGCCTCGGGCGGGCCGAGGCCTAGGCCCTCCACC	0.760													2	4	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													10	731	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000270301.7_In_Frame_Del_p.Q766del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													8	349	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041580	47041581	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:47041580_47041581insC	ENST00000377604.3	+	17	2547_2548	c.1805_1806insC	c.(1804-1809)agccagfs	p.Q603fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.Q525fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.Q526fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	603	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AATGCTCAGAGCCAGCAGTACC	0.599													59	53	---	---	---	---					
PCDH11X	27328	broad.mit.edu	37	X	91133139	91133140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A5KE-01A-11D-A289-08	TCGA-E7-A5KE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87407cd3-301f-4d49-99b3-d4869e7002c2	9fbf44e2-2f8a-4c7f-a3aa-c6828414bbb3	g.chrX:91133139_91133140insA	ENST00000373094.1	+	2	2745_2746	c.1900_1901insA	c.(1900-1902)gaafs	p.E634fs	PCDH11X_ENST00000298274.8_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000395337.2_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000406881.1_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000361655.2_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000373088.1_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000361724.1_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000373097.1_Frame_Shift_Ins_p.E634fs|PCDH11X_ENST00000504220.2_Frame_Shift_Ins_p.E634fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	634	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTTGATAGAGAAAAACAAGAA	0.371													24	42	---	---	---	---