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
SCN7A	6332	broad.mit.edu	37	2	167284432	167284432	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:167284432G>T	ENST00000409855.1	-	17	2845	c.2719C>A	c.(2719-2721)Ctt>Att	p.L907I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	907					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATTTGACCAAGTGAAGATCCG	0.378000													9	32					1.76689e-08	1.95663e-08	1	1	0
CTDNEP1	23399	broad.mit.edu	37	17	7150405	7150405	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:7150405G>A	ENST00000573600.1	-	4	687	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.T89M|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.T89M			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	89	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCAGGAGGCGTACCAGGCCG	0.562000													4	91					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24572907	24572907	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:24572907C>T	ENST00000545054.2	+	10	2173	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	PCK2_ENST00000561286.1_Missense_Mutation_p.R419W|PCK2_ENST00000558096.1_Missense_Mutation_p.R387W|PCK2_ENST00000559250.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.R553W			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	553					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGAGAATGCTCGGGTGCTAGA	0.637000													18	86					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734470	39734470	+	Silent	SNP	T	T	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:39734470T>G	ENST00000413851.2	-	4	524	c.486A>C	c.(484-486)ccA>ccC	p.P162P		NM_172139.2	NP_742151.2			interferon, lambda 3																		TCACCTTTTTTGGGGCCTCCT	0.682000													30	62					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371878	216371878	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:216371878T>A	ENST00000366943.2	-	18	4246	c.3860A>T	c.(3859-3861)aAa>aTa	p.K1287I	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.K1287I|USH2A_ENST00000366942.3_Missense_Mutation_p.K1287I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1287	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGGTTTCTTTAGTAGATCT	0.368000										HNSCC(13;0.011)			15	38					0	0	1	0	0
TVP23B	51030	broad.mit.edu	37	17	18708852	18708852	+	Splice_Site	SNP	A	A	G	rs2589696		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:18708852A>G	ENST00000476139.1	+	7	1815		c.e7-1		TVP23B_ENST00000581733.1_Splice_Site|TVP23B_ENST00000307767.8_Splice_Site					trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		TGTCTTTTGCAGAACACTGGA	0.368000													4	70					0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111702087	111702087	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:111702087G>T	ENST00000545121.1	+	3	633	c.425G>T	c.(424-426)aGa>aTa	p.R142I	CEPT1_ENST00000357172.4_Missense_Mutation_p.R142I	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	142						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	p.R142K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CAGGCAAGAAGAACCAATAGT	0.368000													27	72					8.24728e-16	1.008e-15	1	1	0
SIM1	6492	broad.mit.edu	37	6	100841613	100841613	+	Silent	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:100841613C>G	ENST00000369208.3	-	11	2102	c.1320G>C	c.(1318-1320)tcG>tcC	p.S440S	SIM1_ENST00000262901.4_Silent_p.S440S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	440	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S440S(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTGCGGTCCGAAAACTGTC	0.622000													33	105					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	418112	418112	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:418112C>G	ENST00000432829.2	+	30	3857	c.3541C>G	c.(3541-3543)Caa>Gaa	p.Q1181E	DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1149E|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q716E|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1249E	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1249					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGAAGAACAAGAAGGAGC	0.453000													47	56					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580870	580870	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr18:580870C>T	ENST00000327228.3	+	1	504	c.462C>T	c.(460-462)gaC>gaT	p.D154D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	154	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGATGGGGACGGCGAAGTGA	0.542000													43	57					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052415	94052415	+	Silent	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:94052415A>T	ENST00000297268.6	+	40	3021	c.2550A>T	c.(2548-2550)ggA>ggT	p.G850G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	850			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCCTCTGGAGAGGCTGGTA	0.498000										HNSCC(75;0.22)			29	79					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92615974	92615974	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92615974G>A	ENST00000298047.6	+	23	12369	c.12352G>A	c.(12352-12354)Ggc>Agc	p.G4118S	FAT3_ENST00000409404.2_Missense_Mutation_p.G4118S|FAT3_ENST00000533797.1_Missense_Mutation_p.G453S|FAT3_ENST00000525166.1_Missense_Mutation_p.G3968S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4118	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACGTGTTCGGCTCCTTCCT	0.642000										TCGA Ovarian(4;0.039)			5	11					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26959350	26959350	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:26959350G>A	ENST00000381527.3	+	6	1020	c.517G>A	c.(517-519)Gac>Aac	p.D173N	CDK8_ENST00000536792.1_Silent_p.L153L	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	173	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTTTACAGCTGACATGGGCTT	0.333000													24	23					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151000230	151000230	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:151000230A>T	ENST00000296550.7	+	1	805	c.51A>T	c.(49-51)aaA>aaT	p.K17N	DCLK2_ENST00000302176.8_Missense_Mutation_p.K17N|DCLK2_ENST00000506325.1_Missense_Mutation_p.K17N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	17					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AACGGGACAAAAGGCCGCGGC	0.697000													8	27					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79982595	79982595	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:79982595C>T	ENST00000306688.3	+	3	651	c.309C>T	c.(307-309)gcC>gcT	p.A103A	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	103						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCAGGGGCCGAGGCTCTGG	0.627000													20	71					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456449	102456449	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:102456449C>T	ENST00000413150.2	+	10	997	c.942C>T	c.(940-942)ggC>ggT	p.G314G	MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Silent_p.G294G|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Silent_p.G314G|MAP4K4_ENST00000350198.4_Silent_p.G314G|MAP4K4_ENST00000347699.4_Silent_p.G314G|MAP4K4_ENST00000425019.1_Silent_p.G314G	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	314					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGAGAGGCGAGAAAGGTA	0.398000													18	64					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502218	140502218	+	Missense_Mutation	SNP	C	C	A	rs147134705		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:140502218C>A	ENST00000194152.1	+	1	638	c.638C>A	c.(637-639)gCg>gAg	p.A213E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTCGTGGCGCTGGATGGT	0.512000													55	30					6.60958e-23	8.45411e-23	1	1	0
PYGM	5837	broad.mit.edu	37	11	64522965	64522965	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:64522965C>T	ENST00000164139.3	-	6	1124	c.726G>A	c.(724-726)atG>atA	p.M242I	PYGM_ENST00000377432.3_Missense_Mutation_p.M154I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	242					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACCAGAGGCGCATGGTGTTGA	0.617000													16	49					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89198815	89198815	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:89198815C>A	ENST00000286614.6	-	3	575	c.294G>T	c.(292-294)aaG>aaT	p.K98N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	98					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CGCATCGGGGCTTCTTCATCC	0.363000													35	109					1.45844e-13	1.75651e-13	1	1	0
GIT1	28964	broad.mit.edu	37	17	27910609	27910609	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:27910609C>A	ENST00000225394.3	-	2	326	c.78G>T	c.(76-78)agG>agT	p.R26S	GIT1_ENST00000394869.3_Missense_Mutation_p.R26S|GIT1_ENST00000581348.1_Missense_Mutation_p.R26S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R26S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	26	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCAGCACACCCCTGCTGATGG	0.667000													6	14					0.00198382	0.00207171	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213405594	213405594	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:213405594G>A	ENST00000366960.3	+	10	1371	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Silent_p.A110A|RPS6KC1_ENST00000543470.1_Silent_p.A195A|RPS6KC1_ENST00000366959.3_Silent_p.A395A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	407	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAGCATGCGGAAGGTTGGT	0.438000													4	210					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591287	125591287	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:125591287G>A	ENST00000504087.1	-	4	4182	c.3145C>T	c.(3145-3147)Ctc>Ttc	p.L1049F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L870F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1049										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAATACAGAGTGCAGTTGCA	0.478000													21	43					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965899	23965899	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:23965899G>T	ENST00000335694.4	-	6	836	c.632C>A	c.(631-633)gCa>gAa	p.A211E	GGTLC1_ENST00000286890.4_Missense_Mutation_p.A211E|GGTLC1_ENST00000278765.4_Missense_Mutation_p.A211E	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	211							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGAGGCAGCTGCCCAGCCACC	0.592000													32	70					2.85442e-18	3.51477e-18	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110393597	110393597	+	Splice_Site	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:110393597A>G	ENST00000378402.5	+	3	267		c.e3-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACTTTTCCAGGTTTTTCTC	0.323000										HNSCC(38;0.096)			3	8					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92656129	92656129	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:92656129G>A	ENST00000413330.1	+	10	712	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.R226Q	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	226					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						ACCAACTGCCGAGCAGCGCTT	0.478000													22	39					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70610150	70610150	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:70610150C>A	ENST00000322773.4	+	4	288	c.186C>A	c.(184-186)agC>agA	p.S62R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	62	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAGGAGACAGCTTTTCTCTAA	0.294000													8	18					1.12685e-05	1.19955e-05	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42176917	42176917	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:42176917C>A	ENST00000520810.1	+	14	1680	c.1494C>A	c.(1492-1494)agC>agA	p.S498R	IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000416505.2_Missense_Mutation_p.S439R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.S496R|IKBKB_ENST00000379708.3_Missense_Mutation_p.S275R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	498					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGAAGTACAGCGAGCAAACCG	0.408000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	127					1	1	1	1	0
ADSL	158	broad.mit.edu	37	22	40745955	40745955	+	Silent	SNP	C	C	T	rs148303726		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:40745955C>T	ENST00000216194.7	+	2	329	c.273C>T	c.(271-273)caC>caT	p.H91H	ADSL_ENST00000454266.2_Silent_p.H91H|ADSL_ENST00000342312.6_Silent_p.H91H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGATGGCTCACGTGCACACAT	0.468000													4	81					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248394	59248394	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:59248394C>A	ENST00000371222.2	-	1	1391	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	117					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	TCGGCCAGGGCGCGCACGAAG	0.692000			A		sarcoma								45	100					1.00776e-21	1.25969e-21	1	1	0
RNF213	57674	broad.mit.edu	37	17	78319549	78319549	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319549T>G	ENST00000582970.1	+	29	7557	c.7414T>G	c.(7414-7416)Ttc>Gtc	p.F2472V	RNF213_ENST00000508628.2_Missense_Mutation_p.F2521V|RNF213_ENST00000336301.6_Missense_Mutation_p.F545V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAATGTGGCCTTCGCCAATAA	0.468000													44	103					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278774	154278774	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:154278774G>A	ENST00000285873.7	-	22	3186	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1037					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCATAGTGGCCATCTCTTT	0.547000													94	67					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747537	44747537	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:44747537C>T	ENST00000222673.5	+	23	3053	c.3011C>T	c.(3010-3012)aCg>aTg	p.T1004M	OGDH_ENST00000543843.1_Missense_Mutation_p.T955M|OGDH_ENST00000444676.1_Missense_Mutation_p.T1019M|OGDH_ENST00000449767.1_Missense_Mutation_p.T1000M|OGDH_ENST00000447398.1_Missense_Mutation_p.T1015M|OGDH_ENST00000439616.2_Missense_Mutation_p.T854M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	1004					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACCCACCTGACGGAGCTGCAG	0.642000													4	117					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49443617	49443617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:49443617G>A	ENST00000301067.7	-	11	3753	c.3754C>T	c.(3754-3756)Cga>Tga	p.R1252*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTCATCTCGGGCTGGACTA	0.597000													55	148					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	176					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81154121	81154121	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:81154121A>G	ENST00000372336.3	-	3	709	c.523T>C	c.(523-525)Tgc>Cgc	p.C175R	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.V115A	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	175							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTCTCTTGCACTTGGGACAC	0.582000													41	118					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161133693	161133693	+	Silent	SNP	T	T	C	rs144266041		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:161133693T>C	ENST00000368002.3	+	9	1517	c.1140T>C	c.(1138-1140)agT>agC	p.S380S	USP21_ENST00000368001.1_Silent_p.S380S|USP21_ENST00000289865.8_Silent_p.S380S|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	380					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTTGAAAAGTTGTCTCAAGT	0.502000													34	99					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012995	107012995	+	RNA	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:107012995G>A	ENST00000390625.2	-	0	379																											TTTGCAGATAGGCGATGCTTT	0.473000													76	143					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117267963	117267963	+	Silent	SNP	G	G	T	rs149964584	by1000genomes	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:117267963G>T	ENST00000278935.3	+	27	3582	c.3435G>T	c.(3433-3435)gcG>gcT	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617000													7	56					0.0381472	0.0388537	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118647404	118647404	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:118647404G>T	ENST00000354673.2	-	5	753	c.373C>A	c.(373-375)Cca>Aca	p.P125T	IGSF11_ENST00000489689.1_Missense_Mutation_p.P126T|IGSF11_ENST00000491903.1_Missense_Mutation_p.P126T|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000393775.2_Missense_Mutation_p.P126T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P125T|IGSF11_ENST00000425327.2_Missense_Mutation_p.P125T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	126	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTATGTCTGGAAGGTTGTTG	0.498000													27	27					3.73148e-12	4.36662e-12	1	1	0
FOXG1	2290	broad.mit.edu	37	14	29237068	29237068	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:29237068C>T	ENST00000382535.3	+	2	952	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	FOXG1_ENST00000313071.4_Missense_Mutation_p.R195W			P55316	FOXG1_HUMAN	forkhead box G1	195					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATGGCCATCCGGCAGAGCCC	0.602000													20	39					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317589	31317589	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:31317589A>T	ENST00000265071.2	+	10	1885	c.1620A>T	c.(1618-1620)caA>caT	p.Q540H	CDH6_ENST00000514738.1_Missense_Mutation_p.Q485H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	540	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACCATTCAAGACAACAAAG	0.393000													27	55					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912536	150912536	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:150912536G>A	ENST00000329903.4	+	6	1594	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	521					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTTGGCGAGATCAGTAT	0.507000													93	46					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	50					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390885	62390885	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:62390885G>T	ENST00000281156.4	-	9	1311	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTACCATAGGGGTGTTCCCTG	0.488000													14	24					6.72482e-11	7.65239e-11	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528811	57528811	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:57528811G>A	ENST00000420713.1	+	4	756	c.644G>A	c.(643-645)tGt>tAt	p.C215Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCTTACAAATGTGAAGAATGT	0.358000													8	17					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707160	6707160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:6707160G>A	ENST00000309577.6	-	12	1955	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CHD4_ENST00000357008.2_Nonsense_Mutation_p.R598*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R595*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.R591*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	598					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGTTCTTTCGCTTTCGGCTT	0.483000													76	200					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110914521	110914521	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:110914521C>T	ENST00000265171.5	+	19	3298	c.2853C>T	c.(2851-2853)tgC>tgT	p.C951C	EGF_ENST00000503392.1_Intron|EGF_ENST00000509793.1_Silent_p.C909C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	951	EGF-like 8; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GACTGATTTGCCCTGGTAGGT	0.502000													4	128					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55706002	55706002	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:55706002G>A	ENST00000379906.2	+	3	814	c.559G>A	c.(559-561)Gac>Aac	p.D187N	SLC6A2_ENST00000414754.3_Missense_Mutation_p.D187N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D187N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D82N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	187					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAACTGTACCGACCCCAAGCT	0.567000													19	57					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108677856	108677856	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:108677856G>T	ENST00000232603.5	-	28	2993	c.2911C>A	c.(2911-2913)Cat>Aat	p.H971N	MORC1_ENST00000483760.1_Missense_Mutation_p.H950N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	971					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						gggagtctatgtcttgcatct	0.308000													9	10					1.12685e-05	1.19955e-05	1	1	0
BCAT2	587	broad.mit.edu	37	19	49299953	49299953	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:49299953C>T	ENST00000402551.1	-	10	1447	c.827G>A	c.(826-828)cGc>cAc	p.R276H	BCAT2_ENST00000598162.1_Missense_Mutation_p.R316H|BCAT2_ENST00000316273.6_Missense_Mutation_p.R316H|BCAT2_ENST00000597011.1_Missense_Mutation_p.R276H|BCAT2_ENST00000545387.2_Missense_Mutation_p.R224H|BCAT2_ENST00000599246.1_Missense_Mutation_p.R224H			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	316						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGTGATCGTGCGCTCCACCAC	0.662000													4	138					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239848	114239848	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:114239848C>T	ENST00000371936.1	-	10	1277	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	IL13RA2_ENST00000243213.1_Missense_Mutation_p.R343H			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	343						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TAGCCAGAAACGTAGCAAAGT	0.358000													46	26					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369110	78369110	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:78369110C>T	ENST00000278550.7	-	34	8765	c.8303G>A	c.(8302-8304)cGg>cAg	p.R2768Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2768Q(2)									CTGTCACCTCCGGCCCATCTC	0.478000													5	348					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429979	29429979	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:29429979G>A	ENST00000377136.1	+	4	898	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.V145M|OR2H1_ENST00000377132.1_Missense_Mutation_p.V145M|OR2H1_ENST00000442615.1_Missense_Mutation_p.V145M|OR2H1_ENST00000396792.2_Missense_Mutation_p.V145M			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCTGGCATCTGTGGCCTGGGT	0.562000													74	147					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43171260	43171260	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:43171260T>C	ENST00000352483.2	-	3	684	c.620A>G	c.(619-621)tAc>tGc	p.Y207C	RIPK4_ENST00000544709.1_Missense_Mutation_p.Y144C|RIPK4_ENST00000332512.3_Missense_Mutation_p.Y207C|RIPK4_ENST00000542057.1_Missense_Mutation_p.Y144C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	207						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACACACCTGTATACATCGTG	0.587000													20	34					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773964	41773964	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:41773964G>A	ENST00000394253.3	-	3	1087	c.758C>T	c.(757-759)aCg>aTg	p.T253M	USP49_ENST00000373009.3_Missense_Mutation_p.T253M|USP49_ENST00000297229.2_Missense_Mutation_p.T253M|USP49_ENST00000373006.1_Missense_Mutation_p.T253M|USP49_ENST00000373010.1_Missense_Mutation_p.T253M			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	253					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCAGGCCCGTGACGCCTGG	0.672000													4	91					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449287	104449287	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:104449287C>T	ENST00000361820.3	-	2	1495	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	299					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.A299T(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGGTTAGCGGTGATGTTG	0.498000													12	74					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33780180	33780180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:33780180G>A	ENST00000354992.2	-	9	1574	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	LARGE_ENST00000452586.2_Nonsense_Mutation_p.Q134*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q335*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	335					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTCACCTGGTCAGCTAAG	0.483000													19	138					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37924037	37924037	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:37924037A>G	ENST00000199447.4	+	13	1499	c.1127A>G	c.(1126-1128)gAa>gGa	p.E376G	NME8_ENST00000440017.1_Missense_Mutation_p.E376G|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	376	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAACTTATAGAAAACATGACC	0.318000													10	63					0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36043720	36043720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:36043720G>A	ENST00000229795.3	+	7	1038	c.591G>A	c.(589-591)tgG>tgA	p.W197*	MAPK14_ENST00000468133.1_Nonsense_Mutation_p.W120*|MAPK14_ENST00000310795.4_Nonsense_Mutation_p.W197*|MAPK14_ENST00000229794.4_Nonsense_Mutation_p.W197*	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	197	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGCTGAACTGGATGCATTACA	0.453000													20	46					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101059042	101059042	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:101059042G>A	ENST00000394095.2	-	16	2307	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	SENP7_ENST00000314261.7_Missense_Mutation_p.P686S|SENP7_ENST00000348610.3_Missense_Mutation_p.P719S|SENP7_ENST00000394094.2_Missense_Mutation_p.P687S|SENP7_ENST00000358203.3_Missense_Mutation_p.P588S|SENP7_ENST00000394091.1_Missense_Mutation_p.P588S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	752					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTGGTGGAGGATATACAATC	0.313000													5	8					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376659	138376659	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:138376659C>T	ENST00000356818.2	+	4	852	c.303C>T	c.(301-303)ctC>ctT	p.L101L	PPP1R26_ENST00000401470.3_Silent_p.L101L|PPP1R26_ENST00000605660.1_Silent_p.L101L|PPP1R26_ENST00000605286.1_Silent_p.L101L|PPP1R26_ENST00000604351.1_Silent_p.L101L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	101						nucleolus	protein binding										TCTGTGGTCTCGTTGCTGACT	0.617000													42	64					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30837254	30837254	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:30837254G>A	ENST00000256079.4	-	3	642	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	102	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R102R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGGAGACCGAATTATTCCT	0.418000													5	120					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575592	61575592	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61575592G>A	ENST00000398571.2	-	15	1774	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	566					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGCAGTTTCGTCAGAACTTC	0.388000													55	147					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172216	90172216	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:90172216G>T	ENST00000394412.3	-	18	3731	c.3655C>A	c.(3655-3657)Cac>Aac	p.H1219N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1219					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCTGCTGTGGCCTACAGCG	0.537000													44	101					4.01344e-20	4.97908e-20	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55583041	55583041	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:55583041A>G	ENST00000361849.3	-	34	4845	c.4451T>C	c.(4450-4452)gTg>gCg	p.V1484A	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413A|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442A|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1482A	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1482					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGGGCATCACAACTTGTTG	0.378000										HNSCC(58;0.16)			24	43					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713945	142713945	+	RNA	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:142713945G>A	ENST00000369381.2	-	0	660																											GATTACCTCCGAAGTTAAAGA	0.313000													7	29					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696242	60696242	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:60696242G>A	ENST00000005286.4	+	4	829	c.676G>A	c.(676-678)Gac>Aac	p.D226N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D226N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	226						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGGAGAACGACCCTGGGGA	0.697000													6	16					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532028	92532028	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92532028A>T	ENST00000298047.6	+	9	5866	c.5849A>T	c.(5848-5850)cAc>cTc	p.H1950L	FAT3_ENST00000409404.2_Missense_Mutation_p.H1950L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1800L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1950	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAAGGATCACTACATGCTG	0.418000										TCGA Ovarian(4;0.039)			15	60					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215752352	215752352	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:215752352G>T	ENST00000259154.4	+	7	701	c.407G>T	c.(406-408)aGt>aTt	p.S136I		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	136						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGTATTCCTAGTCGTAAAATA	0.348000													6	18					0.00116845	0.00122798	1	1	0
MOB1B	92597	broad.mit.edu	37	4	71844867	71844867	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:71844867C>A	ENST00000309395.2	+	5	633	c.432C>A	c.(430-432)ttC>ttA	p.F144L	MOB1B_ENST00000396051.2_Missense_Mutation_p.F149L|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	144					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										CAAAGAATTTCATGTCTGTGG	0.418000													14	78					3.27435e-08	3.60179e-08	1	1	0
TLR5	7100	broad.mit.edu	37	1	223284505	223284505	+	Silent	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:223284505A>G	ENST00000540964.1	-	4	2330	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	TLR5_ENST00000342210.6_Silent_p.S623S			O60602	TLR5_HUMAN	toll-like receptor 5	623			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCGTGGAAAGAGAGAAGAGGG	0.448000													23	33					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152135371	152135371	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:152135371T>C	ENST00000243346.5	-	4	781	c.311A>G	c.(310-312)cAa>cGa	p.Q104R		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	104					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GATAAGTGCTTGTCCTTTTTG	0.343000													9	17					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127828359	127828359	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:127828359T>C	ENST00000316724.5	-	3	610	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	BIN1_ENST00000357970.3_Missense_Mutation_p.T67A|BIN1_ENST00000376113.2_Missense_Mutation_p.T67A|BIN1_ENST00000351659.3_Missense_Mutation_p.T67A|BIN1_ENST00000352848.3_Missense_Mutation_p.T67A|BIN1_ENST00000348750.4_Missense_Mutation_p.T67A|BIN1_ENST00000393040.3_Missense_Mutation_p.T67A|BIN1_ENST00000409400.1_Missense_Mutation_p.T67A|BIN1_ENST00000346226.3_Missense_Mutation_p.T67A|BIN1_ENST00000393041.3_Missense_Mutation_p.T67A|BIN1_ENST00000259238.4_Missense_Mutation_p.T67A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	67	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCAGGTAGGTCCGGAGATCC	0.637000													12	43					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132032088	132032088	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:132032088C>T	ENST00000314099.8	-	1	118	c.70G>A	c.(70-72)Gca>Aca	p.A24T	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	24						integral to membrane				endometrium(1)|lung(1)	2						GGTAGTGCTGCCACAACTCTG	0.547000													20	19					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906573	38906573	+	Splice_Site	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:38906573G>C	ENST00000359357.3	+	77	11419		c.e77-1		RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTGTTTCAGATCTGAAAAG	0.348000													10	24					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919829	8919829	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:8919829T>C	ENST00000256707.3	-	18	2526	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	KIDINS220_ENST00000319688.5_Missense_Mutation_p.D783G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D740G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	782	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGGACTTTGTCCTGCTCACA	0.463000													18	37					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384951	195384951	+	RNA	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:195384951C>T	ENST00000445430.1	+	0	4																											CGGGACTGCGCGGCGGCGACT	0.751000													4	15					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84255844	84255844	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:84255844G>A	ENST00000308251.4	-	3	1607	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	513						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGATAGGCAAGGCTGGGCCCT	0.542000													77	215					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1491488	1491488	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1491488C>T	ENST00000329957.6	-	5	910	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	210						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CCGCCGGCCCCGCTGCATAGC	0.677000													4	100					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555748	15555748	+	Silent	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:15555748T>C	ENST00000281513.5	-	25	2884	c.2859A>G	c.(2857-2859)ctA>ctG	p.L953L	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	953										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTCTTTTAATAGCTCATTAG	0.378000													20	71					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60794985	60794985	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:60794985G>A	ENST00000335670.6	-	8	1257	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.A331V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.A411V|RORA_ENST00000261523.5_Missense_Mutation_p.A419V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	419	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCGGGGCTGGCATACTTCCC	0.473000													5	445					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2819133	2819133	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819133C>T	ENST00000301740.8	+	12	8418	c.7869C>T	c.(7867-7869)tcC>tcT	p.S2623S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2623	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcctcctcctcctctt	0.587000													6	65					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190332307	190332307	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332307G>A	ENST00000314761.4	+	14	1621	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	521						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGAGGAAATAGTCACAATATG	0.378000													35	92					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607619	607619	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:607619G>A	ENST00000264555.5	+	14	2291	c.2163G>A	c.(2161-2163)ggG>ggA	p.G721G	PHRF1_ENST00000413872.2_Silent_p.G719G|PHRF1_ENST00000533464.1_Silent_p.G717G|PHRF1_ENST00000416188.2_Silent_p.G720G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	721							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGGCACCGGGCAGCCAGGGC	0.736000													4	94					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319809	78319809	+	Silent	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319809C>G	ENST00000582970.1	+	29	7817	c.7674C>G	c.(7672-7674)tcC>tcG	p.S2558S	RNF213_ENST00000508628.2_Silent_p.S2607S|RNF213_ENST00000336301.6_Silent_p.S631S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCTGGGCTCCATTCCTCTGA	0.567000													26	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410814	179410814	+	Missense_Mutation	SNP	C	C	T	rs150930737	by1000genomes	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:179410814C>T	ENST00000589042.1	-	343	95373	c.95149G>A	c.(95149-95151)Gtc>Atc	p.V31717I	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29149I|TTN_ENST00000342175.6_Missense_Mutation_p.V22844I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30076I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22652I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22777I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30076	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTGCTGACGGTGAGCTTT	0.488000													28	45					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124746185	124746185	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:124746185C>A	ENST00000397801.1	+	17	2800	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	ROBO3_ENST00000538940.1_Missense_Mutation_p.L848M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	870					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCGCCGGACCTGGAGCCCGG	0.746000											OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					1	1	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133196524	133196524	+	Silent	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:133196524G>T	ENST00000388996.4	-	3	988	c.568C>A	c.(568-570)Cga>Aga	p.R190R	KCNQ3_ENST00000521134.1_Silent_p.R70R|KCNQ3_ENST00000519445.1_Silent_p.R190R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	190					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R190*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AACTTCAGTCGGCCCCGCCAG	0.537000													45	111					4.67007e-22	5.88214e-22	1	1	0
MCF2	4168	broad.mit.edu	37	X	138689864	138689864	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:138689864C>T	ENST00000520602.1	-	15	1941	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	MCF2_ENST00000370576.4_Silent_p.L492L|MCF2_ENST00000414978.1_Silent_p.L552L|MCF2_ENST00000338585.6_Silent_p.L508L|MCF2_ENST00000370578.4_Silent_p.L637L|MCF2_ENST00000370573.4_Silent_p.L492L|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Silent_p.L453L|MCF2_ENST00000519895.1_Silent_p.L568L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	492	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTAAAACATCCAAGCTATTGC	0.358000													27	14					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56303838	56303838	+	Splice_Site	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:56303838C>A	ENST00000443188.1	-	9	3053		c.e9-1		NLRP11_ENST00000589824.2_Splice_Site|NLRP11_ENST00000589093.1_Splice_Site|NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAGACTAACCTGCACACAGA	0.557000													35	68					1.06647e-15	1.29388e-15	1	1	0
NTMT1	28989	broad.mit.edu	37	9	132397618	132397618	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:132397618G>A	ENST00000372486.1	+	4	896	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.V183M|NTMT1_ENST00000372483.4_Missense_Mutation_p.V183M|NTMT1_ENST00000482347.1_Missense_Mutation_p.V95M					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		GGACAGCAGCGTGTGCCGGGA	0.637000													4	147					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411907	43411907	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:43411907G>A	ENST00000187910.2	-	4	871	c.806C>T	c.(805-807)aCc>aTc	p.T269I	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.T269I	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCAAATGTAGGTGTAGTTCCG	0.493000													108	290					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000													5	21					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86408456	86408456	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:86408456G>T	ENST00000410111.3	-	2	472	c.85C>A	c.(85-87)Cca>Aca	p.P29T	IMMT_ENST00000442664.2_Missense_Mutation_p.P29T|IMMT_ENST00000409051.2_Missense_Mutation_p.P29T|IMMT_ENST00000449247.2_Missense_Mutation_p.P29T|IMMT_ENST00000254636.5_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	29						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGGCATGGTCGCAATGGA	0.453000													11	30					4.36969e-10	4.93835e-10	1	1	0
SFI1	9814	broad.mit.edu	37	22	31904325	31904325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:31904325G>A	ENST00000432498.1	+	2	448	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	SFI1_ENST00000443326.1_Missense_Mutation_p.V19M|SFI1_ENST00000540643.1_Missense_Mutation_p.V19M|SFI1_ENST00000414585.1_Missense_Mutation_p.V19M|SFI1_ENST00000400288.2_Missense_Mutation_p.V19M|SFI1_ENST00000400289.1_Missense_Mutation_p.V19M|SFI1_ENST00000443011.1_Missense_Mutation_p.V19M	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	19					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATCAAAAAGTGATTAAGCA	0.343000													11	38					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123984019	123984019	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:123984019G>A	ENST00000376874.4	-	3	760	c.525C>T	c.(523-525)gaC>gaT	p.D175D	RILPL1_ENST00000340724.6_Silent_p.D23D	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	175					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGCGGATCTCGTCGCGTTGTT	0.622000													24	73					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387545	39387545	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:39387545G>A	ENST00000402182.3	+	6	987	c.932G>A	c.(931-933)cGc>cAc	p.R311H	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R286H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R311H			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	311					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TTCGCTGCCCGCATCTATGAT	0.572000													5	260					0	0	1	0	0
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029502	22029502	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:22029502G>T	ENST00000404796.2	+	5	531	c.418G>T	c.(418-420)Gct>Tct	p.A140S	CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA														p.0(1)|p.0?(1)									TGATTCCTCAGCTCCTCTCAT	0.463000													52	104					3.14146e-11	3.62476e-11	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039291	11039291	+	RNA	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:11039291G>T	ENST00000470054.1	-	0	912									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATCTGGTGTGTAACGACTTC	0.378000													10	249					0.0692343	0.0700838	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204236637	204236637	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:204236637G>A	ENST00000272203.3	-	5	562	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PLEKHA6_ENST00000414478.1_Silent_p.F82F	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH.							p.F82L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCACCAGGACGAACCAGCGCT	0.587000													32	61					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4165375	4165375	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:4165375C>T	ENST00000294016.3	-	2	607	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	23					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTGCTGTCCCCGCTGGAGT	0.642000													8	20					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187518853	187518853	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:187518853C>T	ENST00000441802.2	-	24	12560	c.12351G>A	c.(12349-12351)tcG>tcA	p.S4117S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4117	EGF-like 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTAAAACCCGAATCACACT	0.428000										HNSCC(5;0.00058)			4	28					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765846	61765846	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:61765846G>C	ENST00000423902.2	+	31	7041	c.6562G>C	c.(6562-6564)Gag>Cag	p.E2188Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2188	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGAAATGTGAGGGCAAAGA	0.502000													11	28					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763458	56763458	+	Silent	SNP	C	C	T	rs148290454	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:56763458C>T	ENST00000267460.4	+	6	1123	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	279					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGATTAACGCCGCCCGGCCTC	0.572000													21	33					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11314928	11314928	+	Silent	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:11314928T>C	ENST00000380712.3	+	3	152	c.84T>C	c.(82-84)taT>taC	p.Y28Y	AMELX_ENST00000380714.3_Silent_p.Y28Y|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	28					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACCCTGGTTATATCAACTTCA	0.433000													32	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A	rs68140816		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:7579311C>A	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	60					6.07928e-31	7.83657e-31	1	1	0
KIF27	55582	broad.mit.edu	37	9	86451951	86451951	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:86451951C>T	ENST00000297814.2	-	18	4314	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1294K|KIF27_ENST00000413982.1_Missense_Mutation_p.E1325K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1391					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTAGATACTTCGATGGAATCA	0.363000													5	61					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826829	46826829	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:46826829C>A	ENST00000283296.7	-	17	3099	c.2811G>T	c.(2809-2811)agG>agT	p.R937S	GPR116_ENST00000545669.1_Missense_Mutation_p.R366S|GPR116_ENST00000456426.2_Missense_Mutation_p.R795S|GPR116_ENST00000362015.4_Missense_Mutation_p.R937S|GPR116_ENST00000265417.7_Missense_Mutation_p.R937S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	937					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCATTGAAATCCTGAATGGCA	0.478000													32	83					2.68265e-12	3.1617e-12	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2819145	2819145	+	Silent	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819145T>C	ENST00000301740.8	+	12	8430	c.7881T>C	c.(7879-7881)tcT>tcC	p.S2627S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2627	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcttcttcctcctcct	0.592000													12	69					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1501650	1501650	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1501650G>A	ENST00000329957.6	-	3	527	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CGTCTGACACGTCTCTCCTGT	0.572000													4	168					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054877	4054877	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:4054877G>A	ENST00000322357.4	-	2	632	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ZBTB7A_ENST00000601588.1_Silent_p.A118A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGCTCACGGCGGGGATCT	0.682000													8	10					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47681869	47681869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:47681869G>T	ENST00000525123.1	-	19	2850	c.2565C>A	c.(2563-2565)tgC>tgA	p.C855*	AGBL2_ENST00000298861.4_Nonsense_Mutation_p.C855*|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.C857*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	855					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTTTGGAGAGCATGATACTG	0.423000													23	66					7.33532e-06	7.91064e-06	1	1	0
ATE1	11101	broad.mit.edu	37	10	123658387	123658387	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:123658387T>C	ENST00000369043.3	-	7	997	c.911A>G	c.(910-912)cAg>cGg	p.Q304R	ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.Q208R|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.Q297R	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	304					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGGTGGATCCTGGTGTATGGC	0.418000													25	73					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21857932	21857932	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:21857932G>T	ENST00000328843.6	+	66	10718	c.10687G>T	c.(10687-10689)Ggc>Tgc	p.G3563C	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3556C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3563	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCACTACTTGGCAGGAACAC	0.353000									Kartagener syndrome				14	66					2.61681e-11	3.04066e-11	1	1	0
PDE6H	5149	broad.mit.edu	37	12	15131063	15131063	+	Silent	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:15131063A>G	ENST00000266395.2	+	2	223	c.117A>G	c.(115-117)ccA>ccG	p.P39P		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	39	Arg/Lys-rich (basic).				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			endometrium(1)|lung(6)|ovary(1)|skin(2)	10						GTAAACCTCCAAAGAAAGGTG	0.458000													10	27					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149904207	149904207	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:149904207T>A	ENST00000439741.2	-	11	1251	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MTMR11_ENST00000406732.3_Missense_Mutation_p.E306V|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.E262V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	334	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCATTTATCCTCAGCTACAGA	0.448000													42	118					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													5	102					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400202	78400202	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:78400202C>A	ENST00000397909.2	+	8	1057	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	NAV3_ENST00000536525.2_Missense_Mutation_p.S295Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S295Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S295Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	295						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTCCAGATTCCTCCAAAGGA	0.423000										HNSCC(70;0.22)			17	44					2.23348e-06	2.42451e-06	1	1	0
ZSCAN2	54993	broad.mit.edu	37	15	85164614	85164614	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:85164614G>A	ENST00000448803.2	+	3	1480	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.G246G|ZSCAN2_ENST00000327179.6_Silent_p.G395G|ZSCAN2_ENST00000546148.1_Silent_p.G396G	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	396					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCGACTGTGGGCAGAGGTTCA	0.507000													5	186					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898449	39898449	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:39898449G>A	ENST00000597629.1	+	2	183	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	ZFP36_ENST00000248673.3_Missense_Mutation_p.G31S|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	31			P -> S (in dbSNP:rs17878633).		positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCAGCCCAGGCTGGGGCTC	0.677000													72	138					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349298	69349298	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:69349298G>T	ENST00000370598.1	+	3	1552	c.731G>T	c.(730-732)aGg>aTg	p.R244M		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	244					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R244K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCTTACCAGGGAGGCCAAG	0.527000													9	29					0.000274275	0.000290099	1	1	0
EEPD1	80820	broad.mit.edu	37	7	36194103	36194103	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:36194103C>T	ENST00000242108.4	+	2	888	c.170C>T	c.(169-171)aCg>aTg	p.T57M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T57M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	57	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCTGGGGTGACGCGTGCCGTG	0.577000													5	284					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61725810	61725810	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61725810T>C	ENST00000401558.2	-	9	1484	c.757A>G	c.(757-759)Aag>Gag	p.K253E	XPO1_ENST00000406957.1_Missense_Mutation_p.K253E|XPO1_ENST00000404992.2_Missense_Mutation_p.K253E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	253	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CACTGTACCTTATAAATCAAT	0.363000			Mis		CLL								13	36					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060533	35060533	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:35060533G>A	ENST00000373913.3	+	3	893	c.413G>A	c.(412-414)cGc>cAc	p.R138H	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R138H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R138H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R138H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	138					cell-cell signaling	membrane	protein binding	p.R138L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCCCTGGCCGCATCCGCCAC	0.632000													4	154					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101252864	101252864	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:101252864G>A	ENST00000388798.2	+	18	2705	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	SPAG1_ENST00000251809.3_Silent_p.P838P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	838					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGATTTGCCGATGTTTTTAA	0.378000													17	41					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715178	165715178	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:165715178G>A	ENST00000543069.1	-	2	902	c.321C>T	c.(319-321)agC>agT	p.S107S	C6orf118_ENST00000230301.8_Silent_p.S211S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	211										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACCTGTCTGCGCTGGTGGCTC	0.627000													9	88					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65706141	65706141	+	Silent	SNP	C	C	T	rs139548967		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:65706141C>T	ENST00000304842.5	+	2	1154	c.729C>T	c.(727-729)gtC>gtT	p.V243V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	243					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AACAACTTGTCTTACATCCTG	0.423000													22	45					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774493	122774493	+	Silent	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:122774493G>T	ENST00000194130.2	-	8	942	c.903C>A	c.(901-903)atC>atA	p.I301I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	301						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTGAAGCCAGATCCAGGATA	0.413000													15	43					6.72482e-11	7.65239e-11	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173850	51173850	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:51173850C>T	ENST00000440970.1	-	2	2423	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.P761P|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	761					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)			GGACTCTGAGCGGGGGCATAG	0.552000													18	80					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29587213	29587213	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:29587213C>T	ENST00000356870.3	+	7	1052	c.942C>T	c.(940-942)gaC>gaT	p.D314D	PTPRU_ENST00000428026.2_Silent_p.D314D|PTPRU_ENST00000373779.3_Silent_p.D314D|PTPRU_ENST00000345512.3_Silent_p.D314D|PTPRU_ENST00000323874.8_Silent_p.D314D|PTPRU_ENST00000460170.2_Silent_p.D314D	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	314	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCATTGGCGACGGGCCGATCG	0.657000													22	68					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61181107	61181107	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61181107G>C	ENST00000316752.6	-	14	1412	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	PUS10_ENST00000407787.1_Missense_Mutation_p.S384C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	384					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GATTTTGTTAGATGAGTTATT	0.373000													12	45					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63637703	63637703	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:63637703G>A	ENST00000178638.3	-	4	842	c.402C>T	c.(400-402)acC>acT	p.T134T	CA12_ENST00000422263.2_Silent_p.T74T|CA12_ENST00000344366.3_Silent_p.T134T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	134					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GTCCGCTGACGGTGTGCTCAG	0.652000													8	31					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184174979	184174979	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:184174979G>A	ENST00000403733.3	+	9	1222	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	WWC2_ENST00000378925.3_Silent_p.E243E|WWC2_ENST00000504005.1_Silent_p.E23E|WWC2_ENST00000513834.1_Silent_p.E341E|WWC2_ENST00000448232.2_Silent_p.E341E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	341										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGGATATTGAGAAGGAAAAAC	0.398000													4	19					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49063101	49063101	+	Missense_Mutation	SNP	C	C	T	rs139856934		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:49063101C>T	ENST00000262013.7	-	23	3186	c.2978G>A	c.(2977-2979)tGt>tAt	p.C993Y	SPAG9_ENST00000505279.1_Missense_Mutation_p.C983Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.C979Y|SPAG9_ENST00000510283.1_Missense_Mutation_p.C836Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	993					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGAATGGAGACATTTCCTCCA	0.328000													6	25					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52651282	52651282	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:52651282G>A	ENST00000356770.4	-	13	1720	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	PBRM1_ENST00000409114.3_Missense_Mutation_p.S620F|PBRM1_ENST00000409767.1_Missense_Mutation_p.S620F|PBRM1_ENST00000296302.7_Missense_Mutation_p.S605F|PBRM1_ENST00000394830.3_Missense_Mutation_p.S605F|PBRM1_ENST00000337303.4_Missense_Mutation_p.S605F|PBRM1_ENST00000409057.1_Missense_Mutation_p.S605F|PBRM1_ENST00000410007.1_Missense_Mutation_p.S605F			Q86U86	PB1_HUMAN	polybromo 1	605	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.S605F(2)|p.S573F(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTACCTGGGAGCCCTCCTC	0.483000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								13	15					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256893	27256893	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:27256893C>T	ENST00000361042.4	+	9	1349	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	WASF3_ENST00000335327.5_Missense_Mutation_p.T378M			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	378					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCAGCTCCACGCACGCAGCT	0.706000													71	61					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592606	167592606	+	Silent	SNP	T	T	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577000													5	21					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433000													10	27					0	0	1	0	0
CDPF1	150383	broad.mit.edu	37	22	46644182	46644182	+	Splice_Site	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:46644182C>A	ENST00000314567.3	-	2	424		c.e2-1		CDPF1_ENST00000404583.1_5'UTR|CDPF1_ENST00000404744.1_5'UTR|CDPF1_ENST00000475605.1_Intron	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1																		GGGACGCCATCTGCAAGATCA	0.537000													5	16					0.0215528	0.0222263	1	1	0
LRP2	4036	broad.mit.edu	37	2	170063536	170063536	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:170063536C>A	ENST00000263816.3	-	39	6979	c.6694G>T	c.(6694-6696)Ggc>Tgc	p.G2232C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2232					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGACAATGCCCTCTGACACA	0.468000													64	162					8.52622e-23	1.08217e-22	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38305868	38305868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:38305868C>T	ENST00000374618.3	+	3	257	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	ZNF33A_ENST00000469037.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Q34*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Q27*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	27	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAGGAGTGGCAGCACCTGGA	0.473000													23	73					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230401042	230401042	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:230401042C>T	ENST00000366672.4	+	14	1441	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F	RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.L419F|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	457	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AACTAACTGCCTCGACACTTT	0.507000													80	240					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748026	121748030	+	Frame_Shift_Del	DEL	CGATG	CGATG	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:121748026_121748030delCGATG	ENST00000452319.1	+	14	4596_4600	c.4536_4540delCGATG	c.(4534-4542)ttccfs	p.FDA1512fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.FDA1512fs|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1512					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATTGACTTCGATGCCATCATGGA	0.629													74	197	---	---	---	---					
WDR75	84128	broad.mit.edu	37	2	190332193	190332194	+	Splice_Site	INS	-	-	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332193_190332194insA	ENST00000314761.4	+	14	1507_1508		c.e14-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TATTTCCACAGAAAAAGCTGTT	0.391													31	107	---	---	---	---					
KBTBD12	166348	broad.mit.edu	37	3	127642211	127642218	+	Frame_Shift_Del	DEL	ACTGTAGC	ACTGTAGC	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:127642211_127642218delACTGTAGC	ENST00000405109.1	+	2	774_781	c.307_314delACTGTAGC	c.(307-315)tfs	p.TVA103fs	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.TVA103fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	103										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAATGTACAGACTGTAGCTATGGCTGCC	0.380													9	25	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176687015	176687017	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:176687015_176687017delTCC	ENST00000439151.2	+	14	5037_5039	c.4992_4994delTCC	c.(4990-4995)tgt>tg	p.CP1664del	NSD1_ENST00000354179.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000347982.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000361032.4_In_Frame_Del_p.CP1561del	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1664					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCGCTGTCCTGTGGCATAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			93	65	---	---	---	---					
THEMIS	387357	broad.mit.edu	37	6	128134040	128134040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:128134040delG	ENST00000368250.1	-	5	2007	c.1509delC	c.(1507-1509)ccfs	p.P503fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.P582fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.P547fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.P582fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	582	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGGGAGACTTGGGCAGGTCTA	0.478													54	201	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(268-273)aggcgg>agGGCgcgg	p.90_91RR>RAR	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	90	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782													2	4	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2																						TCTGAGGCTGCCCCCGTGTCC	0.677													5	3	---	---	---	---					
FRG2B	441581	broad.mit.edu	37	10	135438982	135438991	+	Frame_Shift_Del	DEL	GTGCAAGCCC	GTGCAAGCCC	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:135438982_135438991delGTGCAAGCCC	ENST00000443774.1	-	4	501_510	c.452_461delGGGCTTGCAC	c.(451-462)atfs	p.RACT151fs	FRG2B_ENST00000425520.1_Frame_Shift_Del_p.RACT150fs			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus		p.R151M(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGCGCCCAGTGCAAGCCCTGGAACGTCC	0.529													26	208	---	---	---	---					
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													3	5	---	---	---	---					
RAD23A	5886	broad.mit.edu	37	19	13058677	13058691	+	In_Frame_Del	DEL	GAGAAGATAGAAGCT	GAGAAGATAGAAGCT	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:13058677_13058691delGAGAAGATAGAAGCT	ENST00000586534.1	+	2	149_163	c.88_102delGAGAAGATAGAAGCT	c.(88-102)del	p.EKIEA30del	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000316856.3_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	30	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTGCTAAAGGAGAAGATAGAAGCTGAGAAGGGTC	0.512								Nucleotide excision repair (NER)					14	115	---	---	---	---					
ANO8	57719	broad.mit.edu	37	19	17434359	17434364	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:17434359_17434364delGGGGCT	ENST00000159087.4	-	18	3819_3824	c.3661_3666delAGCCCC	c.(3661-3666)del	p.SP1221del		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1221	Pro-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ACACGGCCTGggggctggggctgggg	0.675													15	42	---	---	---	---					
CD40LG	959	broad.mit.edu	37	X	135741255	135741255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:135741255delA	ENST00000370629.2	+	5	523	c.467delA	c.(466-468)gafs	p.E156fs	CD40LG_ENST00000370628.2_Frame_Shift_Del_p.E135fs	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	156					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTAACCCTGGAAAATGGGAAA	0.438									Immune Deficiency with Hyper-IgM				14	465	---	---	---	---