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
RPH3A	22895	broad.mit.edu	37	12	113328749	113328749	+	Silent	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:113328749A>T	ENST00000389385.4	+	19	2213	c.1716A>T	c.(1714-1716)atA>atT	p.I572I	RPH3A_ENST00000548866.1_Silent_p.I523I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Silent_p.I568I|RPH3A_ENST00000420983.2_Silent_p.I572I|RPH3A_ENST00000543106.2_Silent_p.I572I|RPH3A_ENST00000447659.2_Silent_p.I523I|RPH3A_ENST00000415485.3_Silent_p.I572I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	572	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCATCATACGCTGCGTGC	0.582000													3	35					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67430102	67430102	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:67430102G>A	ENST00000355520.5	-	9	1366	c.725C>T	c.(724-726)aCc>aTc	p.T242I	OPHN1_ENST00000540071.1_Missense_Mutation_p.T242I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	242					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCTTCCCGGGTACTGGAGAA	0.378000													14	7					0	0	1	0	0
BAG2	9532	broad.mit.edu	37	6	57048751	57048751	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:57048751T>A	ENST00000370693.5	+	3	771	c.399T>A	c.(397-399)agT>agA	p.S133R	BAG2_ENST00000545080.1_Missense_Mutation_p.S100R	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	133	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGCCAAGAGTCATTTAATGT	0.433000													4	160					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50133394	50133394	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:50133394G>A	ENST00000371564.3	-	3	1480	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	NFATC2_ENST00000414705.1_Missense_Mutation_p.R401W|NFATC2_ENST00000396009.3_Missense_Mutation_p.R421W	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	421	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGTGGGCCCGGTGATGTGGC	0.587000													6	86					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3823862	3823862	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:3823862C>T	ENST00000262367.5	-	13	3162	c.2353G>A	c.(2353-2355)Gcc>Acc	p.A785T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A747T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	785					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCGCCTGGGCCATCATGTTG	0.597000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	126					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		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)	GATGGTCGTCGTCATCGTCTT	0.527000													18	77					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542134	46542134	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:46542134T>A	ENST00000242848.4	-	15	4174	c.3826A>T	c.(3826-3828)Aga>Tga	p.R1276*	ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R232*|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1276*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1276	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAACTTCTTCTTGAACTATGG	0.368000													4	98					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46252677	46252677	+	Missense_Mutation	SNP	C	C	T	rs145292442		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:46252677C>T	ENST00000372004.3	+	4	322	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	NCOA3_ENST00000371998.3_Missense_Mutation_p.R36W|NCOA3_ENST00000371997.3_Missense_Mutation_p.R36W|NCOA3_ENST00000341724.6_Missense_Mutation_p.R36W	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	36					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGTGAAAAACGGAGACGGGA	0.398000													16	44					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875250	247875250	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:247875250G>T	ENST00000302084.2	-	1	855	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTTGATCAGATCCAAGGCA	0.488000													47	68					1.15181e-12	1.25269e-12	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62203587	62203587	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:62203587G>C	ENST00000467148.1	-	1	221	c.152C>G	c.(151-153)tCt>tGt	p.S51C	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCCTCCTGAGAGTGGCAGGT	0.711000													4	18					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76058916	76058916	+	Missense_Mutation	SNP	C	C	T	rs149364780		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:76058916C>T	ENST00000336517.4	+	3	590	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	ZP3_ENST00000394857.3_Missense_Mutation_p.R133C|ZP3_ENST00000416245.1_5'UTR	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	133	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GAGGACTAACCGCGCAGAGAT	0.617000													25	156					0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150056388	150056388	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150056388G>A	ENST00000297130.4	+	7	906	c.707G>A	c.(706-708)aGa>aAa	p.R236K	MYOZ3_ENST00000520112.1_Silent_p.Q152Q|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236K	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCAACAGAGTGGCCCAG	0.642000													39	197					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152332804	152332804	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:152332804G>T	ENST00000440973.1	+	7	1480	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	ESR1_ENST00000338799.5_Missense_Mutation_p.L370F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.L258F|ESR1_ENST00000206249.3_Missense_Mutation_p.L370F|ESR1_ENST00000443427.1_Missense_Mutation_p.L370F|ESR1_ENST00000544394.1_Missense_Mutation_p.L197F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	370	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTGTGGATTTGACCCTCCATG	0.463000													18	60					1.96292e-10	2.0966e-10	1	1	0
IL17RB	55540	broad.mit.edu	37	3	53899156	53899156	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:53899156G>A	ENST00000288167.3	+	11	1339	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	444	SEFIR.			Missing (in Ref. 2; AA sequence).	defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GCACAAATACGTGGTGGTCTA	0.478000													37	24					0	0	1	0	0
REEP6	92840	broad.mit.edu	37	19	1496452	1496452	+	Splice_Site	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1496452G>C	ENST00000233596.3	+	4	621	c.517_splice	c.e4+1	p.V173_splice		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	173						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCAGGAACGGTGGGTGCTC	0.662000													21	28					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66620516	66620516	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:66620516A>T	ENST00000261233.4	+	7	1088	c.667A>T	c.(667-669)Aac>Tac	p.N223Y	IRAK3_ENST00000457197.2_Missense_Mutation_p.N162Y	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	223	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCATCACCCAAACATACTAGA	0.388000													34	19					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111671	197111671	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:197111671C>G	ENST00000367409.4	-	3	1967	c.1711G>C	c.(1711-1713)Gtt>Ctt	p.V571L	ASPM_ENST00000294732.7_Missense_Mutation_p.V571L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	571					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCGAGCAACTGAAGCTGTT	0.348000													46	56					0	0	1	0	0
TMEM185A	84548	broad.mit.edu	37	X	148693015	148693015	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:148693015C>G	ENST00000316916.8	-	2	474	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TMEM185A_ENST00000507237.1_Missense_Mutation_p.G57A|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	57						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACTGAGGCTCCAACAATGAC	0.468000													207	203					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040044	43040044	+	Silent	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:43040044C>A	ENST00000314890.3	-	2	1524	c.105G>T	c.(103-105)ccG>ccT	p.P35P		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	35							receptor activity										GAAGAGGCCACGGCCCACGAT	0.567000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	119					3.19611e-63	3.72047e-63	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212248564	212248564	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:212248564T>C	ENST00000342788.4	-	28	4013	c.3703A>G	c.(3703-3705)Aaa>Gaa	p.K1235E	ERBB4_ENST00000402597.1_Missense_Mutation_p.K1225E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K1219E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1235					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCAAACGCTTTCTTGGCCTTC	0.488000										TSP Lung(8;0.080)			65	47					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113146035	113146035	+	Splice_Site	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113146035T>G	ENST00000393845.2	-	3	318	c.253_splice	c.e3+1	p.T84_splice	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Splice_Site_p.T84_splice	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	84										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATACCTACCTGTAGTGCTTT	0.363000													16	74					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465226	51465226	+	Silent	SNP	T	T	G	rs1047416		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	410	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542000													4	175					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306375	14306375	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:14306375G>C	ENST00000378053.3	-	2	2034	c.1778C>G	c.(1777-1779)tCt>tGt	p.S593C	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S593C|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATCTGAAAAGAAGTTTCCCT	0.398000													16	125					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:65413405C>T	ENST00000519389.1	+	8	1635	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368000													3	16					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154878231	154878231	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:154878231C>G	ENST00000460393.1	+	17	1774	c.1654C>G	c.(1654-1656)Cag>Gag	p.Q552E	MME_ENST00000462745.1_Missense_Mutation_p.Q552E|MME_ENST00000492661.1_Missense_Mutation_p.Q552E|MME_ENST00000493237.1_Missense_Mutation_p.Q552E|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.Q552E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	552					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGGAAGAAATCAGATAGGTAA	0.333000													51	236					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922513	24922513	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:24922513C>G	ENST00000329468.2	+	1	1973	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCCCAACACCTCCTAGCTCC	0.517000													64	170					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55225403	55225403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:55225403G>C	ENST00000275493.2	+	11	1432	c.1255G>C	c.(1255-1257)Gcc>Ccc	p.A419P	EGFR_ENST00000342916.3_Missense_Mutation_p.A419P|EGFR_ENST00000454757.2_Missense_Mutation_p.A366P|EGFR_ENST00000455089.1_Missense_Mutation_p.A374P|EGFR_ENST00000344576.2_Missense_Mutation_p.A419P|EGFR_ENST00000442591.1_Missense_Mutation_p.A419P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	419					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGACCTCCATGCCTTTGAGAA	0.448000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	254					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58480315	58480315	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:58480315G>C	ENST00000344743.3	-	4	375	c.234C>G	c.(232-234)atC>atG	p.I78M	GLYAT_ENST00000529732.1_Missense_Mutation_p.I78M|GLYAT_ENST00000278400.3_Missense_Mutation_p.I78M	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	78					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTTGGAGTAGATTTGGTAAG	0.348000													27	76					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055252	103055252	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:103055252A>T	ENST00000262457.2	+	14	2898	c.2713A>T	c.(2713-2715)Aga>Tga	p.R905*	INVS_ENST00000541287.1_Nonsense_Mutation_p.R809*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R735*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	905					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GATAATTCAGAGAGAACGAAG	0.537000													20	65					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:65425585C>T	ENST00000330909.8	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2412371	2412371	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:2412371C>T	ENST00000360876.4	+	12	1807	c.1751C>T	c.(1750-1752)gCt>gTt	p.A584V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A584V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	584					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CACGGAGAGGCTCCGCGGATA	0.468000													4	73					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438783	21438783	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:21438783G>A	ENST00000313654.9	+	34	4653	c.4412G>A	c.(4411-4413)cGa>cAa	p.R1471Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1471Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1471					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACATAAGCGAAGGACTAAG	0.443000													58	40					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7698431	7698431	+	Silent	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:7698431C>G	ENST00000338316.4	+	7	1142	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	ADCY2_ENST00000537121.1_Silent_p.L171L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	351					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTATATCTCTCCCTAACCATG	0.373000													63	52					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132791109	132791109	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:132791109G>C	ENST00000367941.2	-	7	631	c.518C>G	c.(517-519)tCt>tGt	p.S173C	STX7_ENST00000367937.4_Missense_Mutation_p.S173C	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	173	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		CCTGATAGAAGATTCTCTCTC	0.428000													4	45					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863002	154863002	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:154863002C>T	ENST00000287907.2	+	1	969	c.393C>T	c.(391-393)aaC>aaT	p.N131N	AC093726.4_ENST00000543018.1_Silent_p.T4T|AC093726.4_ENST00000395731.2_Silent_p.T4T|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	131						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCATCTGGAACGTGACGGCCA	0.642000													4	62					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456717	156456717	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156456717T>G	ENST00000425854.1	-	7	1620	c.1088A>C	c.(1087-1089)tAc>tCc	p.Y363S	HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.Y363S|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000523175.1_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCATGGGCGTAAACTCTCAA	0.418000													11	32					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18088053G>A	ENST00000399138.4	+	1	501	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RP11-258F1.1_ENST00000583062.1_RNA|ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	166						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672000													17	55					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972625	61972625	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:61972625G>C	ENST00000329882.8	-	4	734	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTTGGGCACTGTTCCCTCCCT	0.547000									Russell-Silver syndrome				47	110					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57539234	57539234	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:57539234G>A	ENST00000243077.3	+	6	1268	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	LRP1_ENST00000553277.1_Missense_Mutation_p.V268M|LRP1_ENST00000554174.1_Missense_Mutation_p.V268M|LRP1_ENST00000338962.4_Missense_Mutation_p.V268M|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	268					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.V268M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAAGGGCTTCGTGGATGAGCA	0.597000													30	92					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50385913	50385913	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:50385913C>T	ENST00000434422.1	-	16	1883	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I	RACGAP1_ENST00000551016.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000548961.1_Missense_Mutation_p.V38I|RACGAP1_ENST00000547905.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000454520.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000312377.5_Missense_Mutation_p.V528I|RACGAP1_ENST00000427314.2_Missense_Mutation_p.V528I			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	528	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGGCGCTCAACCACCTAAAAG	0.443000													67	99					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705329	43705329	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:43705329C>T	ENST00000263801.3	-	24	5530	c.5278G>A	c.(5278-5280)Gaa>Aaa	p.E1760K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1715K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1765K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1763K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1760	BRCT 1.|Poly-Glu.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCTCTTCTTCACTGCTTCCT	0.527000								Other conserved DNA damage response genes					7	40					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14420038	14420038	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:14420038C>G	ENST00000344204.4	+	34	5135	c.5111C>G	c.(5110-5112)tCc>tGc	p.S1704C	TRIO_ENST00000537187.1_Missense_Mutation_p.S1704C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1704	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGACCGCTCCCCAGCGGCA	0.592000													24	19					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14863832	14863832	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:14863832C>G	ENST00000380881.4	-	4	1119	c.304G>C	c.(304-306)Gac>Cac	p.D102H	FREM1_ENST00000422223.2_Missense_Mutation_p.D102H|FREM1_ENST00000380880.3_Missense_Mutation_p.D102H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	102					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCACTGTGTCTTCATCAAGA	0.423000													10	16					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499306	62499306	+	Splice_Site	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:62499306T>C	ENST00000225792.5	-	7	1211	c.810_splice	c.e7+1	p.R270_splice	DDX5_ENST00000450599.2_Splice_Site_p.R191_splice|DDX5_ENST00000578804.1_Splice_Site_p.R270_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	270	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GGACACTTACTCTTATTTGAT	0.378000			T	ETV4	prostate								83	82					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21854752	21854752	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21854752G>A	ENST00000380172.4	+	6	779	c.573G>A	c.(571-573)gcG>gcA	p.A191A	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Silent_p.A208A|MTAP_ENST00000580900.1_Silent_p.A191A	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	191					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CCTGGGGGGCGGATGTTATCA	0.532000													57	33					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135289240	135289240	+	Silent	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:135289240C>A	ENST00000543669.1	+	3	933	c.222C>A	c.(220-222)ccC>ccA	p.P74P	FHL1_ENST00000370683.1_Silent_p.P90P|FHL1_ENST00000394153.2_Silent_p.P74P|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394155.2_Silent_p.P74P|FHL1_ENST00000370676.3_Silent_p.P90P|FHL1_ENST00000370690.3_Silent_p.P74P|FHL1_ENST00000345434.3_Silent_p.P74P|FHL1_ENST00000535737.1_Silent_p.P74P|FHL1_ENST00000539015.1_Silent_p.P103P	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	74	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCACCCCTTGGCCAATG	0.572000													4	192					1	1	1	1	0
CDK8	1024	broad.mit.edu	37	13	26967560	26967560	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26967560C>A	ENST00000381527.3	+	7	1206	c.703C>A	c.(703-705)Cac>Aac	p.H235N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	235	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)		ACCAATATTTCACTGTCGACA	0.343000													57	47					5.12918e-33	5.8563e-33	1	1	0
ZNF81	347344	broad.mit.edu	37	X	47774931	47774931	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:47774931C>T	ENST00000376954.1	+	6	1254	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H296Y			P51508	ZNF81_HUMAN	zinc finger protein 81	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAAAAAATTCATACTGTGGA	0.358000													14	20					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723767	49723767	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49723767G>C	ENST00000449682.2	-	8	1356	c.995C>G	c.(994-996)aCg>aGg	p.T332R	MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.T257R	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	318	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTTTCTGGCGTAAATCGGTG	0.657000													6	20					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841762	157841762	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157841762C>G	ENST00000464171.1	+	3	427	c.302C>G	c.(301-303)tCa>tGa	p.S101*	RSRC1_ENST00000480820.1_Nonsense_Mutation_p.S101*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.S101*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.S101*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.S101*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	133	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGGTCTAGGTCAAAAAGCAGA	0.383000													31	74					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68857424	68857424	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:68857424G>C	ENST00000261769.5	+	13	2250	c.2059G>C	c.(2059-2061)Gac>Cac	p.D687H	CDH1_ENST00000422392.2_Missense_Mutation_p.D626H|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	687	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.E682fs*34(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGCGTGTGTGACTGTGAAGG	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				19	120					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358114	24358114	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:24358114C>G	ENST00000005284.3	+	2	1473	c.271C>G	c.(271-273)Cag>Gag	p.Q91E		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	91					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGACTACGAACAGGACACAGC	0.567000													8	37					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85758209	85758209	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:85758209G>T	ENST00000322366.6	-	7	856	c.449C>A	c.(448-450)cCt>cAt	p.P150H	WDFY3_ENST00000295888.4_Missense_Mutation_p.P150H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	150						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGGTGGAAGGCACTGACAT	0.413000													13	17					1.5842e-08	1.67408e-08	1	1	0
DDX59	83479	broad.mit.edu	37	1	200613413	200613413	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:200613413C>A	ENST00000331314.6	-	8	2042	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	610						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATCATGTTTTCTGATAATATC	0.308000													13	36					2.27111e-07	2.3747e-07	1	1	0
DST	667	broad.mit.edu	37	6	56494070	56494070	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:56494070C>T	ENST00000370754.5	-	31	4353	c.4354G>A	c.(4354-4356)Gtt>Att	p.V1452I	DST_ENST00000370765.6_Missense_Mutation_p.V948I|DST_ENST00000244364.6_Missense_Mutation_p.V948I|DST_ENST00000421834.2_Missense_Mutation_p.V1274I|DST_ENST00000312431.6_Missense_Mutation_p.V1274I|DST_ENST00000370769.4_Missense_Mutation_p.V1274I|DST_ENST00000446842.2_Missense_Mutation_p.V948I|DST_ENST00000518935.1_Missense_Mutation_p.V948I|DST_ENST00000370788.2_Missense_Mutation_p.V1274I|DST_ENST00000361203.3_Missense_Mutation_p.V1274I			Q03001	DYST_HUMAN	dystonin	1274					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCACATGAACATTTTGCCAC	0.338000													26	119					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140140219	140140219	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:140140219A>G	ENST00000344774.4	-	2	197	c.143T>C	c.(142-144)gTg>gCg	p.V48A	FAM166A_ENST00000388932.2_Missense_Mutation_p.V48A	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	48										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCTCTTCTGCACACTGGGGTC	0.612000													9	104					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564266	142564266	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:142564266T>C	ENST00000392957.2	+	10	2277	c.1490T>C	c.(1489-1491)gTg>gCg	p.V497A	EPHB6_ENST00000411471.2_Missense_Mutation_p.V220A|EPHB6_ENST00000442129.1_Missense_Mutation_p.V497A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	497	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCACCAGGTGAGCCGGGCA	0.587000													24	65					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43026970	43026970	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr22:43026970C>T	ENST00000361740.4	-	4	349	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	CYB5R3_ENST00000352397.5_Missense_Mutation_p.R84Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R61Q	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	84	FAD-binding FR-type.		T -> S (in dbSNP:rs1800457).		blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TCCATCAATTCGAGCCGAGAG	0.587000													10	53					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95089563	95089563	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:95089563G>C	ENST00000371501.4	-	44	4962	c.4840C>G	c.(4840-4842)Caa>Gaa	p.Q1614E	MYOF_ENST00000371502.4_Missense_Mutation_p.Q1633E|MYOF_ENST00000359263.4_Missense_Mutation_p.Q1614E|MYOF_ENST00000358334.5_Missense_Mutation_p.Q1601E			Q9NZM1	MYOF_HUMAN	myoferlin	1614	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTTTTCTTGAGGTAAGTAG	0.393000													51	65					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33247107	33247107	+	Silent	SNP	C	C	T	rs2475		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33247107C>T	ENST00000374617.4	-	15	2135	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	593										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTTGGCCTTCGCCTCCTTAT	0.632000													92	131					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135307	33135307	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33135307C>A	ENST00000341947.2	-	56	4245	c.4018G>T	c.(4018-4020)Gat>Tat	p.D1340Y	COL11A2_ENST00000374708.4_Missense_Mutation_p.D1254Y|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1280Y|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1314Y|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1319Y|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1233Y|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1293Y|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1259Y	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1340	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCGCCAGGATCTCCCTGAAAC	0.652000													19	40					4.96729e-08	5.21216e-08	1	1	0
ZNF548	147694	broad.mit.edu	37	19	57905567	57905567	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57905567G>A	ENST00000597410.1	+	1	17	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	ZNF548_ENST00000366197.5_Intron|AC003002.6_ENST00000596400.1_Silent_p.A9A|ZNF548_ENST00000336128.7_Silent_p.A9A|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000598895.1_Silent_p.A9A|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Silent_p.A9A																							GTCCCCTGGCGATGGCAGAAA	0.537000													6	13					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253521	32253521	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:32253521G>C	ENST00000332378.4	-	1	353	c.323C>G	c.(322-324)tCt>tGt	p.S108C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	108						keratin filament	structural molecule activity	p.S108C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACATCCACTAGAGACAAAGGT	0.562000													23	56					0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18971140	18971140	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:18971140T>A	ENST00000339775.6	-	5	599	c.446A>T	c.(445-447)tAt>tTt	p.Y149F	BTG3_ENST00000348354.6_Missense_Mutation_p.Y105F	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	105	Poly-Ser.				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCTCTCCATACCTAAGAAT	0.348000													5	12					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597338	20597338	+	Silent	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:20597338G>T	ENST00000504154.1	+	31	3453	c.3201G>T	c.(3199-3201)ggG>ggT	p.G1067G	SLIT2_ENST00000273739.5_Silent_p.G1080G|SLIT2_ENST00000503823.1_Silent_p.G1059G|SLIT2_ENST00000503837.1_Silent_p.G1063G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1067	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACACCAGGGTACGTAGGTG	0.453000													110	78					7.18566e-60	8.33201e-60	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004440	42004440	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:42004440C>T	ENST00000395925.3	-	15	4315	c.4231G>A	c.(4231-4233)Gac>Aac	p.D1411N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1411					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGACTTGTGTCACTGAGCTGT	0.567000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				36	120					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966576	23966576	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:23966576T>C	ENST00000335694.4	-	4	544	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M114V|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M114V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	114							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGCCCACCATGATCGTCGGG	0.662000													31	189					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305785	32305785	+	Silent	SNP	G	G	T	rs140791274	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:32305785G>T	ENST00000357033.4	-	43	6357	c.6151C>A	c.(6151-6153)Cgg>Agg	p.R2051R	DMD_ENST00000378677.2_Silent_p.R2047R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2047W(1)|p.R2046W(1)|p.R2051W(1)|p.R710W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTCAATCCGACCTGAGCTT	0.348000													6	13					0.00116845	0.00120068	1	1	0
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													3	34					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538502	152538502	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:152538502G>T	ENST00000368789.1	-	2	238	c.183C>A	c.(181-183)caC>caA	p.H61Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	61					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GCCGGCATCGGTGGTGGCGCC	0.677000													4	162					0.150653	0.152703	1	1	0
EIF4B	1975	broad.mit.edu	37	12	53421933	53421933	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:53421933G>C	ENST00000262056.9	+	8	1266	c.940G>C	c.(940-942)Gat>Cat	p.D314H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D314H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D275H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	314	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCTCCAGAGATGATTACTC	0.468000													25	88					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58762729	58762729	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:58762729C>T	ENST00000333581.5	+	6	534	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF544_ENST00000596825.1_Intron|ZNF544_ENST00000269829.4_Intron|ZNF544_ENST00000599953.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000594384.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		gcttcaggttcccggtctggg	0.448000													14	62					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	129					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98591296	98591296	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:98591296T>C	ENST00000359863.4	+	65	10150	c.9941T>C	c.(9940-9942)cTt>cCt	p.L3314P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3303P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3285P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3314					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCCCACCCTTCTGTCTTCC	0.542000													16	94					0	0	1	0	0
GPR150	285601	broad.mit.edu	37	5	94956164	94956164	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:94956164C>T	ENST00000380007.2	+	1	383	c.185C>T	c.(184-186)aCa>aTa	p.T62I		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGCAACACCACAGTGCTGTGC	0.726000													12	5					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30974808	30974808	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:30974808A>G	ENST00000262519.8	+	5	1258	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TACACCCCTCAGACTGTGCCC	0.527000													75	45					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881325	64881325	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:64881325G>A	ENST00000533854.1	+	6	1033	c.796G>A	c.(796-798)Gac>Aac	p.D266N	CACNG5_ENST00000307139.3_Missense_Mutation_p.D266N			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	266				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAAGTGCCCCGACTATGATCA	0.642000													25	83					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27003266	27003266	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:27003266G>C	ENST00000314616.6	+	7	998	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E239Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	239	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACTGGAGGAAGAGTATGAGTA	0.473000													35	137					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083484	171083484	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:171083484G>A	ENST00000367755.4	+	7	1276	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	FMO3_ENST00000538429.1_Missense_Mutation_p.A326T|FMO3_ENST00000542847.1_Missense_Mutation_p.A369T|FMO3_ENST00000392085.2_Missense_Mutation_p.A389T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	389					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCCCGCTGGGCAGCACAAGT	0.453000													7	36					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430711	37430711	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:37430711G>A	ENST00000374660.1	+	7	817	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E240K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E240K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGACACAGCTGAAAGCTTGGT	0.493000													13	19					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41007694	41007694	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41007694G>A	ENST00000324545.7	+	12	2125	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	USP9X_ENST00000378308.2_Missense_Mutation_p.D498N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	498					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCAGAAGATGATAAAGATGG	0.433000													32	40					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151785665	151785665	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785665C>G	ENST00000367294.3	+	4	729	c.470C>G	c.(469-471)gCt>gGt	p.A157G	C6orf211_ENST00000545879.1_Missense_Mutation_p.A38G|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	157							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCCATCATTGCTTTATGTACT	0.333000													6	18					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121537	38121537	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:38121537C>G	ENST00000395867.3	-	6	1296	c.746G>C	c.(745-747)aGa>aCa	p.R249T	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R249T	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AATGAAGGTTCTTCCACATTC	0.373000													7	23					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91735020	91735020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:91735020C>T	ENST00000359028.2	+	47	11596	c.11371C>T	c.(11371-11373)Cga>Tga	p.R3791*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3787*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3737*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3791					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGGTGGCATCGAGTCACAGG	0.333000			T	BRAF	papillary thyroid								31	45					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890210	24890210	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:24890210C>T	ENST00000382071.2	+	2	154	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.C23C			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	23						collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AGGACACCTGCAGGCAAGGGC	0.542000													23	30					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669336	53669336	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53669336T>C	ENST00000600412.1	-	2	327	c.212A>G	c.(211-213)cAt>cGt	p.H71R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H136R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTTTCAATATGCCTGTTTCC	0.373000													55	31					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834668	61834668	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:61834668C>G	ENST00000280772.1	-	37	6162	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1991					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACTAAATTCTATCCAGTCA	0.443000													10	43					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158726893	158726893	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:158726893A>G	ENST00000407559.3	+	22	2778	c.2620A>G	c.(2620-2622)Aat>Gat	p.N874D		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	874										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTCAGATCCTAATCACTTTAT	0.313000													7	22					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958684	53958684	+	RNA	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53958684A>G	ENST00000454407.1	+	0	1376							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCATTTCAAATCA	0.388000													4	112					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18156627	18156627	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18156627T>C	ENST00000327031.4	-	9	1226	c.1001A>G	c.(1000-1002)gAa>gGa	p.E334G	FLII_ENST00000545457.2_Missense_Mutation_p.E280G|FLII_ENST00000579294.1_Missense_Mutation_p.E323G|FLII_ENST00000578558.1_Missense_Mutation_p.E334G|FLII_ENST00000379450.4_Missense_Mutation_p.E249G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	334	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCAGAGACTTTCAGGGACCAG	0.587000													12	38					0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67352222	67352222	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67352222C>G	ENST00000398606.3	+	4	460	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	GSTP1_ENST00000398603.1_Missense_Mutation_p.R71G|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	71	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TACCATCCTGCGTCACCTGGG	0.612000													21	125					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60063693	60063693	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:60063693C>T	ENST00000505959.1	-	7	780	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ELOVL7_ENST00000425382.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000508821.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R98Q			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	98					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AATGTCACATCGAAATGAATA	0.378000													33	26					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599800	136599800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:136599800G>T	ENST00000531224.1	-	4	471	c.219C>A	c.(217-219)taC>taA	p.Y73*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Y71*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	73					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCTTCCTCTGTACCCATAAG	0.438000													15	125					5.03518e-11	5.41691e-11	1	1	0
RBM39	9584	broad.mit.edu	37	20	34292657	34292657	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:34292657A>G	ENST00000361162.6	-	16	1791	c.1407T>C	c.(1405-1407)taT>taC	p.Y469Y	RBM39_ENST00000253363.6_Silent_p.Y475Y|RBM39_ENST00000528062.3_Silent_p.Y453Y|RBM39_ENST00000407261.4_Silent_p.Y318Y	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	475	Interaction with NCOA6 (By similarity).|RRM 3.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGCACTTCACATACACATTGC	0.373000													21	145					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450035	158450035	+	Silent	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:158450035T>G	ENST00000355585.4	+	3	537	c.462T>G	c.(460-462)tcT>tcG	p.S154S	SYNJ2_ENST00000367121.3_Silent_p.S154S|SYNJ2_ENST00000367122.2_Silent_p.S154S|SYNJ2_ENST00000449859.2_Silent_p.S103S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	154	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCTCTGAATGGGGGA	0.607000													26	97					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10818168	10818168	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:10818168A>G	ENST00000313243.2	-	4	575	c.193T>C	c.(193-195)Ttg>Ctg	p.L65L	MAK_ENST00000538030.1_Silent_p.L65L|MAK_ENST00000474039.1_Silent_p.L65L|MAK_ENST00000536370.1_Silent_p.L65L|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Silent_p.L65L			P20794	MAK_HUMAN	male germ cell-associated kinase	65	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACTTCTTTCAATTTAATAACA	0.244000													8	9					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242758105	242758105	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:242758105C>G	ENST00000391969.2	+	5	1897	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	NEU4_ENST00000325935.6_Missense_Mutation_p.L409V|NEU4_ENST00000407683.1_Missense_Mutation_p.L396V|NEU4_ENST00000405370.1_Missense_Mutation_p.L396V|NEU4_ENST00000404257.1_Missense_Mutation_p.L408V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	396						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGTATCCGCCTGAGCCAGTC	0.711000													8	7					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541103	35541103	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:35541103A>G	ENST00000287272.2	+	5	629	c.609A>G	c.(607-609)gaA>gaG	p.E203E	UNC5D_ENST00000404895.2_Silent_p.E203E|UNC5D_ENST00000416672.1_Silent_p.E203E|UNC5D_ENST00000420357.1_Silent_p.E203E|UNC5D_ENST00000453357.2_Silent_p.E198E			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	203	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACTCTGAACAAGACGAGA	0.453000													4	82					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463461	130463461	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:130463461C>T	ENST00000356763.3	-	2	1159	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	201	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATCAACAAAACGTTCAGGAGC	0.418000													14	46					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197707201	197707201	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197707201G>T	ENST00000330198.4	+	6	576	c.554G>T	c.(553-555)tGc>tTc	p.C185F	LMLN_ENST00000420910.2_Missense_Mutation_p.C185F|LMLN_ENST00000332636.5_Missense_Mutation_p.C133F|LMLN_ENST00000482695.1_Missense_Mutation_p.C133F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	185					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGCAGCAATGCCGGGTCTAC	0.478000													36	163					2.2871e-25	2.58165e-25	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11323910	11323910	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11323910C>T	ENST00000294618.7	-	35	4444	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R817H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1478					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCGTGCGTGCGGATGGTGCT	0.642000													22	52					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67263728	67263728	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67263728C>T	ENST00000356404.3	-	15	2463	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	PITPNM1_ENST00000534749.1_Silent_p.P746P|PITPNM1_ENST00000436757.2_Silent_p.P745P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	746	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTGGAACTTCGGGGCCAGCA	0.647000													19	45					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20494150	20494150	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:20494150G>C	ENST00000361078.2	-	8	1161	c.1139C>G	c.(1138-1140)cCt>cGt	p.P380R	PUM2_ENST00000319801.5_Missense_Mutation_p.P380R|PUM2_ENST00000338086.5_Missense_Mutation_p.P380R|PUM2_ENST00000536417.1_Missense_Mutation_p.P324R|PUM2_ENST00000403432.1_Missense_Mutation_p.P380R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	380	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTGTCCAGGCTGAGCTTG	0.453000													25	87					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114239	53114239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:53114239G>A	ENST00000375442.4	+	4	1233	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	367					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TTTTCAGCTGGTTCTCAAACC	0.617000													9	34					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320181	56320181	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:56320181G>C	ENST00000443188.1	-	5	2505	c.1795C>G	c.(1795-1797)Cag>Gag	p.Q599E	NLRP11_ENST00000592953.1_Missense_Mutation_p.Q500E|NLRP11_ENST00000360133.3_Missense_Mutation_p.Q599E|NLRP11_ENST00000589824.2_Missense_Mutation_p.Q599E|NLRP11_ENST00000589093.1_Missense_Mutation_p.Q599E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	599							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)		AAGATGCGCTGAACACTCAAC	0.408000													41	93					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57705295	57705295	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57705295G>A	ENST00000263095.6	+	2	500	c.86G>A	c.(85-87)gGg>gAg	p.G29E	ZNF264_ENST00000536056.1_Missense_Mutation_p.G29E|ZNF264_ENST00000599653.1_Missense_Mutation_p.G29E|ZNF264_ENST00000600531.1_Missense_Mutation_p.G29E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGGAGTGGGGGCAGCTGGAC	0.537000													72	157					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90039687	90039687	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90039687A>G	ENST00000268122.4	-	1	157	c.89T>C	c.(88-90)gTg>gCg	p.V30A	RHCG_ENST00000544600.1_Missense_Mutation_p.V30A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	30					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTCGTAGCGCACGAACACCCC	0.587000													52	184					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925037	150925037	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150925037G>T	ENST00000261800.5	-	9	5663	c.5651C>A	c.(5650-5652)cCt>cAt	p.P1884H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1884					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATGGATAGGCCCGACTAT	0.478000													64	135					4.09106e-26	4.6355e-26	1	1	0
ANKS3	124401	broad.mit.edu	37	16	4777097	4777097	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:4777097G>A	ENST00000304283.4	-	4	546	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Silent_p.I11I|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGGTGCACGATTGTGTCGT	0.542000													17	34					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45571317	45571317	+	Splice_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:45571317G>A	ENST00000544944.2	+	14	2403		c.e14+1		CLASRP_ENST00000221455.3_Intron|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein						mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCCAAAGTCAGTAAGAATTTG	0.647000													32	17					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197518394	197518394	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197518394C>G	ENST00000438796.2	+	1	289	c.245C>G	c.(244-246)aCg>aGg	p.T82R	LRCH3_ENST00000441090.2_Missense_Mutation_p.T82R|LRCH3_ENST00000334859.4_Missense_Mutation_p.T82R|LRCH3_ENST00000425562.2_Missense_Mutation_p.T82R|LRCH3_ENST00000414675.2_Missense_Mutation_p.T82R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	82						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CACGACCTGACGGACACCACC	0.766000													3	34					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108521404	108521404	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:108521404C>T	ENST00000263054.6	-	5	908	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E301K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	301						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCCAAATTCAGCAGAGCTG	0.363000													24	40					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113484819	113484819	+	Splice_Site	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:113484819C>G	ENST00000297405.5	-	32	5640		c.e32+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTTACTTACCAAACTCCTT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	109					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195955139	195955139	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:195955139C>T	ENST00000296327.5	+	5	725	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ggctgctgctCACCAGGTGAG	0.672000													28	216					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41205842	41205842	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41205842C>T	ENST00000399959.2	+	14	2437	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	DDX3X_ENST00000457138.2_Missense_Mutation_p.R512C|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	528	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R528C(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATATGTACATCGTATTGGTCG	0.368000										HNSCC(61;0.18)			72	33					0	0	1	0	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34392616	34392616	+	Splice_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:34392616G>A	ENST00000605528.1	-	3	168	c.150_splice	c.e3-1	p.S51_splice	RPS10_ENST00000326199.8_Splice_Site_p.S51_splice|RPS10_ENST00000344700.3_Splice_Site_p.S51_splice|RPS10_ENST00000494077.1_5'UTR	NM_001202470.2	NP_001189399.1																					GGACTTGAGAGACTGTAAGGC	0.483000													21	23					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590594	156590594	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156590594A>T	ENST00000302938.4	-	2	777	c.682T>A	c.(682-684)Tct>Act	p.S228T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	228	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGCAGAAGAGGTGGCTGCA	0.567000													45	101					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916275	97916275	+	RNA	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:97916275G>A	ENST00000534948.1	+	0	1053							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTGAAACATGAAGTTGACAA	0.303000													20	61					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4892181	4892181	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:4892181C>T	ENST00000396829.2	-	8	1020	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	INCA1_ENST00000574617.1_Missense_Mutation_p.E152K|INCA1_ENST00000355025.3_Missense_Mutation_p.E137K|INCA1_ENST00000576820.1_Missense_Mutation_p.E152K|INCA1_ENST00000575780.1_Missense_Mutation_p.E137K	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	152						nucleus				upper_aerodigestive_tract(1)	1						CAGCCCTCTTCGCCAAGCACC	0.572000													31	33					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58587688	58587688	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:58587688C>G	ENST00000317147.5	-	22	3300	c.2968G>C	c.(2968-2970)Gag>Cag	p.E990Q	CNOT1_ENST00000569240.1_Missense_Mutation_p.E985Q|CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.E990Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	990					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCACTTACCTCCTGTAAATGA	0.353000													15	61					0	0	1	0	0
ZDHHC12	84885	broad.mit.edu	37	9	131486279	131486279	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:131486279C>G	ENST00000372667.5	-	1	123	c.94G>C	c.(94-96)Gat>Cat	p.D32H	ZDHHC12_ENST00000372663.4_Missense_Mutation_p.D32H|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.D32H			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	32						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACCGGTATCGTGCAGGAAG	0.692000													10	18					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332459	46332459	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:46332459C>T	ENST00000245934.7	-	14	1998	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	585					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATCTTTATGCGGACCTGGTG	0.627000													3	43					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853310	70853310	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:70853310C>T	ENST00000333538.5	+	3	1146	c.512C>T	c.(511-513)tCc>tTc	p.S171F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	171	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCTGCGGTCCGTGCACAGT	0.557000													15	55					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614712	45614712	+	Translation_Start_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:45614712G>A	ENST00000432715.1	+	0	274				ADCY1_ENST00000297323.7_Silent_p.V190V			Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						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 membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTGGGCTCGTGGTGGCTGCGT	0.647000													40	14					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110610529	110610529	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:110610529G>C	ENST00000265164.2	-	7	916	c.839C>G	c.(838-840)tCa>tGa	p.S280*	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.S191*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	280					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AGTTAGCATTGAGGCAAAACA	0.408000													20	57					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509707	119509707	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:119509707C>T	ENST00000368468.3	-	11	2023	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	528					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCAACACCACCATCAAATCTG	0.383000													75	38					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55719586	55719586	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:55719586C>G	ENST00000373965.2	-	24	3443	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PCDH15_ENST00000395432.2_Missense_Mutation_p.D973H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D939H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D621H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1010H|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1010H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1015H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1017H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D988H|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1010	Cadherin 9.				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)				TCCCCATCATCAAAAGCAACC	0.383000										HNSCC(58;0.16)			13	39					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113737638	113737638	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:113737638A>C	ENST00000552014.1	-	17	2214	c.1699T>G	c.(1699-1701)Ttc>Gtc	p.F567V	SLC24A6_ENST00000549069.1_Missense_Mutation_p.F126V|SLC24A6_ENST00000546737.1_Missense_Mutation_p.F511V|SLC24A6_ENST00000202831.3_Missense_Mutation_p.F567V|SLC24A6_ENST00000550047.1_Missense_Mutation_p.F82V			Q6J4K2	NCKX6_HUMAN		567					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ACGACAAGGAAGTTCAGGTAG	0.567000													71	38					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121794	58121794	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:58121794G>A	ENST00000257897.3	-	14	1709	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	AGAP2_ENST00000547588.1_Missense_Mutation_p.R898W|AGAP2-AS1_ENST00000542466.2_3'UTR	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	898	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAGGCATCCCGCTCCTCAAAA	0.557000													146	116					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631453	126631453	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:126631453G>T	ENST00000359653.4	+	1	762	c.391G>T	c.(391-393)Gct>Tct	p.A131S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	131					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGACCAGTTGCTTTTTCTGT	0.463000													24	54					2.21704e-12	2.39376e-12	1	1	0
TTN	7273	broad.mit.edu	37	2	179529425	179529425	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179529425G>A	ENST00000589042.1	-	167	36382	c.36158C>T	c.(36157-36159)aCg>aTg	p.T12053M	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10201	Ig-like 80.						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)			AACCACAAGCGTTTTCTTTTC	0.378000													61	11					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132624979	132624979	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:132624979C>T	ENST00000397333.3	-	11	1700	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	554	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTGGATCTTCCCCTGTTCAA	0.612000													73	43					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962717	69962717	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:69962717T>A	ENST00000305231.7	+	1	525	c.479T>A	c.(478-480)cTg>cAg	p.L160Q	UGT2B7_ENST00000508661.1_Missense_Mutation_p.L160Q|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGAGCTGCTGGCTGAGCTA	0.373000													18	60					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118415635	118415635	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:118415635C>G	ENST00000264020.2	-	13	1441	c.1064G>C	c.(1063-1065)aGc>aCc	p.S355T	TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_3'UTR|IFT46_ENST00000264021.3_Missense_Mutation_p.S304T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	304					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTGTCTCAGCTGAAGGTTAA	0.512000													3	11					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157815867	157815867	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157815867G>A	ENST00000490689.2	-	5	2055	c.522C>T	c.(520-522)atC>atT	p.I174I	SHOX2_ENST00000425436.3_Silent_p.I315I|SHOX2_ENST00000389589.4_Silent_p.I339I|SHOX2_ENST00000483851.2_Silent_p.I303I|SHOX2_ENST00000441443.2_Silent_p.I174I			O60902	SHOX2_HUMAN	short stature homeobox 2	315					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAGATCGGCGATGCTGGAGT	0.677000													206	574					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005359	102005359	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:102005359G>T	ENST00000372735.1	+	4	2021	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	BHLHB9_ENST00000361229.4_Missense_Mutation_p.R479I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R479I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	479						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCAGCCAGAGACATGATC	0.363000													40	42					1.57019e-19	1.7525e-19	1	1	0
CRLF3	51379	broad.mit.edu	37	17	29111242	29111242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29111242G>A	ENST00000324238.6	-	8	1416	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	CRLF3_ENST00000544695.1_Missense_Mutation_p.S315L	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	431					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATAGAAAAATGAGCATCCAAA	0.408000													30	45					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80014868	80014868	+	Silent	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:80014868G>C	ENST00000328827.4	-	3	1008	c.636C>G	c.(634-636)tcC>tcG	p.S212S		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	212					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GTAGCAGATAGGAACTGCCTG	0.363000													56	136					0	0	1	0	0
FAM118B	79607	broad.mit.edu	37	11	126110935	126110935	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:126110935C>G	ENST00000533050.1	+	4	828	c.335C>G	c.(334-336)tCt>tGt	p.S112C	FAM118B_ENST00000360194.4_Missense_Mutation_p.S112C|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CAGAAACTCTCTCCTGTGAGT	0.393000													23	86					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77240409	77240409	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:77240409T>A	ENST00000426126.2	+	14	2106	c.1457T>A	c.(1456-1458)cTa>cAa	p.L486Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L486Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	486					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATGGGCTACCTATTCTTCTTG	0.358000													6	11					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30550868	30550868	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30550868C>T	ENST00000326195.8	+	10	930	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S235L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	273					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAAGTGGCTTCATTAAAAGCA	0.483000													68	127					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTAAATCAGAAAACAGTGA	0.388000													63	27					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201150	170201150	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:170201150C>T	ENST00000231706.4	-	6	1383	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	356						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCTCGGCATCGGGAAGAGGG	0.542000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	260					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838760	17838760	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:17838760C>G	ENST00000324096.4	+	5	2718	c.2567C>G	c.(2566-2568)aCg>aGg	p.T856R	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.T830R|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	856	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACGGCAAACGGAGAACGTC	0.667000													10	28					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73050773	73050773	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:73050773A>T	ENST00000261180.4	+	18	3012	c.2916A>T	c.(2914-2916)gaA>gaT	p.E972D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	972					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTAATACTGAAGGTGAACTCA	0.294000													76	30					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515316	140515316	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:140515316A>G	ENST00000231134.5	+	1	517	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		100	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGACAGAACCCTGTATAT	0.428000													22	66					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2117225	2117225	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:2117225C>T	ENST00000355272.6	-	16	2061	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	AP3D1_ENST00000356926.4_Missense_Mutation_p.E528K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E619K|AP3D1_ENST00000350812.6_Missense_Mutation_p.E450K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	619					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTACCCTTCGGGGACTGGA	0.642000													9	28					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35487966	35487966	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:35487966A>C	ENST00000556994.1	+	13	1439	c.1042A>C	c.(1042-1044)Atc>Ctc	p.I348L	SRP54_ENST00000546080.1_Missense_Mutation_p.I299L|SRP54_ENST00000555557.1_Missense_Mutation_p.I284L|SRP54_ENST00000216774.6_Missense_Mutation_p.I348L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	348	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTTCAGTCAGATCTTGGTTAG	0.289000													4	33					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421372	100421372	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:100421372C>A	ENST00000358173.3	-	3	773	c.305G>T	c.(304-306)cGg>cTg	p.R102L	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R102L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	102					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGCCCAGCCCGAGGCAGGGA	0.672000													53	72					7.71302e-15	8.48147e-15	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395793	154395793	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:154395793C>G	ENST00000435029.4	+	1	2534	c.2374C>G	c.(2374-2376)Cct>Gct	p.P792A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	792	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGAATCCACCTCCTAAACT	0.443000													8	55					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18648530	18648530	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:18648530G>C	ENST00000597960.2	-	6	946	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	FKBP8_ENST00000596558.1_Missense_Mutation_p.L275V|FKBP8_ENST00000544835.2_Missense_Mutation_p.L116V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L304V|FKBP8_ENST00000222308.3_Missense_Mutation_p.L276V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	275					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGGTTGTTCAGACACTTCACC	0.622000													31	54					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472255	105472255	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:105472255A>C	ENST00000361360.2	+	1	287	c.287A>C	c.(286-288)cAg>cCg	p.Q96P	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	96	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACGCGCACCAGTGGGTCACA	0.746000													7	14					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241661	1241661	+	Splice_Site	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:1241661T>A	ENST00000308624.5	+	10	850	c.719_splice	c.e10-1	p.W241_splice	SNTG2_ENST00000407292.1_Splice_Site_p.W114_splice	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	241					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCCCCAGGTGGAATGCGTT	0.667000													5	9					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225670843	225670843	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:225670843C>A	ENST00000409592.3	-	34	3909	c.3796_splice	c.e34+1	p.A1266_splice	DOCK10_ENST00000258390.7_Splice_Site_p.A1272_splice			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1272							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTCAAGTACCTGCTATGGAA	0.338000													4	8					0.150653	0.152703	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96684209	96684209	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:96684209C>T	ENST00000376747.3	-	2	245	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	UGGT2_ENST00000376712.4_Missense_Mutation_p.E59K|UGGT2_ENST00000397618.3_Missense_Mutation_p.E59K|UGGT2_ENST00000376714.3_Missense_Mutation_p.E59K	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	59					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCATTACTTTCTTCTGCCATA	0.269000													13	12					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955233	113955233	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113955233T>G	ENST00000482457.2	-	1	1192	c.689A>C	c.(688-690)tAt>tCt	p.Y230S		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AGTGAGGGAATAGCTGTAGTA	0.468000													13	77					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927760	104927760	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:104927760G>T	ENST00000507740.1	+	5	1510	c.1274G>T	c.(1273-1275)tGt>tTt	p.C425F	RIMS2_ENST00000406091.3_Missense_Mutation_p.C617F|RIMS2_ENST00000436393.2_Missense_Mutation_p.C395F|RIMS2_ENST00000262231.10_Missense_Mutation_p.C472F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	695					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGTCGGCTTTGTGCATTTATT	0.333000										HNSCC(12;0.0054)			24	68					1.16021e-09	1.23479e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179417911	179417911	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179417911C>A	ENST00000589042.1	-	335	89940	c.89716G>T	c.(89716-89718)Gat>Tat	p.D29906Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28265Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27338Y|TTN_ENST00000460472.2_Missense_Mutation_p.D20841Y|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21033Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20966Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28265	Fibronectin type-III 118.						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)			TTTCCTGTATCATTGCGAGTA	0.403000													25	102					3.28513e-13	3.58596e-13	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94539776	94539776	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:94539776G>C	ENST00000289495.5	+	1	567	c.351G>C	c.(349-351)gaG>gaC	p.E117D	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E117D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	117	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTAAGTTGGAGTCTTCTGTTT	0.413000										HNSCC(28;0.073)			18	99					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375191	31375191	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:31375191G>T	ENST00000328111.2	+	6	909	c.588G>T	c.(586-588)caG>caT	p.Q196H	DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q154H|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q196H|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000375623.4_Missense_Mutation_p.Q154H|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q120H|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q208H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	196	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACAGCCAGCAGGGGGGCA	0.627000													39	53					4.67007e-22	5.23188e-22	1	1	0
OR52E8	390079	broad.mit.edu	37	11	5878738	5878738	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:5878738C>A	ENST00000537935.1	-	1	226	c.195G>T	c.(193-195)atG>atT	p.M65I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGTAGTACATAGGCTCAT	0.458000													84	51					3.1376e-36	3.59618e-36	1	1	0
FAM160B1	57700	broad.mit.edu	37	10	116620577	116620577	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:116620577C>A	ENST00000369248.4	+	15	2352	c.2017C>A	c.(2017-2019)Cac>Aac	p.H673N	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H673N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	673										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCCACACATCCACGAGTACCT	0.403000													6	195					0.0215528	0.0220712	1	1	0
SP100	6672	broad.mit.edu	37	2	231380302	231380302	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:231380302G>A	ENST00000264052.5	+	25	2942	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	863	Poly-Glu.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ggaagaggaagaagatgaaga	0.353000													11	8					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46293251	46293251	+	Translation_Start_Site	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:46293251A>T	ENST00000330430.6	-	0	154				RCAN2_ENST00000371374.1_Intron|RCAN2_ENST00000306764.7_Intron|RCAN2_ENST00000405162.1_Intron	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2						calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GAGTTAGGCAACCTCAGAGTT	0.557000													19	34					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37180155	37180155	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:37180155C>G	ENST00000274258.7	-	28	5928	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1901Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1901Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1901										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTTCCTCTTCTGTAAATGCT	0.239000													9	29					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107823215	107823215	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:107823215C>T	ENST00000379028.3	-	23	2924	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	NRCAM_ENST00000351718.4_Silent_p.L802L|NRCAM_ENST00000413765.2_Silent_p.L799L|NRCAM_ENST00000379022.4_Silent_p.L818L|NRCAM_ENST00000379024.4_Silent_p.L799L|NRCAM_ENST00000425651.2_Silent_p.L818L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	818	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAACTTTGATCAGGTATGGAA	0.483000													27	43					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526263	176526263	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:176526263C>T	ENST00000367662.3	+	2	1969	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R269W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	269					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCTGGGAGGCGGGAGCGGCT	0.577000													32	34					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625742	141625742	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:141625742G>A	ENST00000389484.3	-	26	5231	c.4260C>T	c.(4258-4260)gaC>gaT	p.D1420D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1420					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTCATGTCTTTATAGA	0.403000										TSP Lung(27;0.18)			21	38					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57861015	57861015	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:57861015A>G	ENST00000381227.1	+	6	972	c.559A>G	c.(559-561)Att>Gtt	p.I187V	POLR2B_ENST00000314595.5_Missense_Mutation_p.I187V|POLR2B_ENST00000441246.2_Missense_Mutation_p.I180V|POLR2B_ENST00000431623.2_Missense_Mutation_p.I112V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	187					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTATTTCATTATTAATGGATC	0.284000													24	16					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989012	60989012	+	Silent	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:60989012G>C	ENST00000252998.1	-	10	1551	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CGGCAGGGCTGAGTGACCCAT	0.711000													5	7					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129907334	129907334	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:129907334C>T	ENST00000368654.3	-	13	3145	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	MKI67_ENST00000368653.3_Missense_Mutation_p.E564K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	924					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTCTATTTCCTTCATCTCT	0.348000													20	65					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154314	74154314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:74154314C>A	ENST00000443185.2	-	3	1014	c.697G>T	c.(697-699)Gag>Tag	p.E233*	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACGCAGGCCTCGCCGCTGCCG	0.687000													4	4					1	1	1	1	0
SHC3	53358	broad.mit.edu	37	9	91653097	91653097	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:91653097C>G	ENST00000375835.4	-	11	1773	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	SHC3_ENST00000375830.1_Missense_Mutation_p.K37N|SHC3_ENST00000375831.1_Missense_Mutation_p.K37N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	489	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCTCCAGCATCTTGGCATCTG	0.577000													60	144					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256092	16256092	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:16256092A>T	ENST00000375759.3	+	11	3561	c.3357A>T	c.(3355-3357)ttA>ttT	p.L1119F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1119					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAGGTATTAGATGATCAAG	0.428000													20	29					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247260	37247260	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:37247260C>T	ENST00000373491.3	+	3	440	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	98						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CAACTGCAGCCCAAGTTCTAG	0.478000													46	91					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66006744	66006744	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66006744G>A	ENST00000320580.4	+	21	2458	c.2425G>A	c.(2425-2427)Gtg>Atg	p.V809M	PACS1_ENST00000529757.1_Missense_Mutation_p.V345M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	809					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCTGGCCATCGTGGGGTAAGG	0.657000													25	42					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43600624	43600624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:43600624G>C	ENST00000355710.3	+	4	1082	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RET_ENST00000340058.5_Missense_Mutation_p.E284Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	284					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCCGTGGTGGAGTTCAAGCG	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	27					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878171	27878171	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:27878171C>T	ENST00000374011.2	-	6	1424	c.456G>A	c.(454-456)ctG>ctA	p.L152L	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Silent_p.L152L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	152	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGCGGCTCAGTCGGAGCC	0.632000													43	104					0	0	1	0	0
TRIM26	7726	broad.mit.edu	37	6	30166570	30166570	+	Missense_Mutation	SNP	C	C	T	rs144770536		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30166570C>T	ENST00000454678.2	-	4	747	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R104Q|TRIM26_ENST00000437089.1_Missense_Mutation_p.R104Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	104							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CTCTCGGTGTCGCTCGCACAA	0.647000													8	63					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	G	rs144530385		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:80872870C>G	ENST00000533983.1	+	17	2038	c.1699C>G	c.(1699-1701)Cgt>Ggt	p.R567G	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578G|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567G			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567000													19	53					0	0	1	0	0
ARPP19	10776	broad.mit.edu	37	15	52849391	52849391	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:52849391T>A	ENST00000566423.1	-	3	207	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ARPP19_ENST00000563566.1_Missense_Mutation_p.E9V|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000569281.2_Missense_Mutation_p.E25V|ARPP19_ENST00000563277.1_Missense_Mutation_p.E9V|ARPP19_ENST00000567669.1_Missense_Mutation_p.E25V|ARPP19_ENST00000561650.1_Missense_Mutation_p.E9V|ARPP19_ENST00000561971.1_Missense_Mutation_p.E44V|ARPP19_ENST00000249822.4_Missense_Mutation_p.E25V|ARPP19_ENST00000564163.1_Missense_Mutation_p.E44V|ARPP19_ENST00000568196.1_Missense_Mutation_p.E9V			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	25					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTGCTTTCTCTGGACTAGT	0.323000													12	61					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12186814	12186814	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12186814C>T	ENST00000439326.3	+	4	1054	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAGATGGTTCCATTCCTTTC	0.403000													6	11					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	63					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21324757	21324757	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:21324757C>A	ENST00000377191.3	+	16	1535	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	XRN2_ENST00000430571.2_Missense_Mutation_p.F404L|XRN2_ENST00000539513.1_Missense_Mutation_p.F426L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	480					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATACGAGTTTCACATCTGATG	0.418000													55	81					4.25531e-23	4.78522e-23	1	1	0
KIF7	374654	broad.mit.edu	37	15	90176070	90176070	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90176070T>A	ENST00000394412.3	-	14	2952	c.2876A>T	c.(2875-2877)aAg>aTg	p.K959M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	959					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)			TCTCAGGCGCTTGCTCTCCAG	0.657000													9	25					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556195	1556195	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1556195G>A	ENST00000402693.4	-	2	1322	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	MEX3D_ENST00000388824.6_Silent_p.A441A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	441					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACCGGGGCACCGGGAC	0.776000													3	8					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754424	49754424	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:49754424G>T	ENST00000304801.3	-	1	629	c.477C>A	c.(475-477)gaC>gaA	p.D159E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	159					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGACATAGACGTCCCCTAGCT	0.488000													42	75					2.59497e-14	2.84302e-14	1	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491278	100491278	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:100491278C>G	ENST00000279907.7	-	6	746	c.534G>C	c.(532-534)ttG>ttC	p.L178F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L178F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	178										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTAAAAGTCAAAACCTAAG	0.323000													26	33					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12981863	12981863	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12981863T>A	ENST00000251472.4	+	24	3179	c.3140T>A	c.(3139-3141)gTa>gAa	p.V1047E		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1047	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCAACAAGGTAGCAGTGACC	0.602000													42	115					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139848183	139848183	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:139848183C>G	ENST00000371633.3	+	3	283	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	95					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCTTATGTGCTGATACCGGC	0.642000													4	24					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69682093	69682093	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:69682093C>T	ENST00000340965.3	+	6	1154	c.486C>T	c.(484-486)ctC>ctT	p.L162L	PAQR5_ENST00000395407.2_Silent_p.L162L|PAQR5_ENST00000561153.1_Silent_p.L162L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	162					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACACCATCCTCAGCACAGGCC	0.582000													14	50					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350601	15350601	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:15350601T>C	ENST00000263377.2	-	16	3535	c.3314A>G	c.(3313-3315)cAg>cGg	p.Q1105R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1105					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGAGGGGCTGGGGCTGGAC	0.701000			T	C15orf55	lethal midline carcinoma of young people								17	40					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432536	153432536	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:153432536G>T	ENST00000436816.1	+	3	571	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	MFAP3_ENST00000322602.5_Missense_Mutation_p.D118Y|MFAP3_ENST00000439768.2_5'UTR	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	118	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCTTTTGATGACCGTGGGCT	0.403000													24	164					3.08376e-08	3.24721e-08	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22656566	22656566	+	Silent	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:22656566A>T	ENST00000400546.1	+	3	432	c.183A>T	c.(181-183)atA>atT	p.I61I	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.I86I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	61	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAGAGAAGATAATTTCAACAC	0.363000													13	47					0	0	1	0	0
FAM174B	400451	broad.mit.edu	37	15	93173554	93173554	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:93173554C>A	ENST00000327355.5	-	2	664	c.366G>T	c.(364-366)aaG>aaT	p.K122N	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	122						integral to membrane				endometrium(2)|lung(1)	3						ACTTGCGTGTCTTCTTTAACC	0.507000													13	12					1.61879e-10	1.73525e-10	1	1	0
TMEM67	91147	broad.mit.edu	37	8	94798550	94798550	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:94798550G>A	ENST00000453321.3	+	13	1446	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	TMEM67_ENST00000409623.3_Missense_Mutation_p.R382Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	463					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGAGTAATTCGAGTTGCTACT	0.378000													52	39					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49842758	49842758	+	Silent	SNP	G	G	A	rs1128278		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49842758G>A	ENST00000333486.3	-	24	3180	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	1008					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		tcatagtgcagaggtgggaag	0.597000													19	21					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705352	14705352	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:14705352C>A	ENST00000547437.1	+	5	378	c.301C>A	c.(301-303)Cca>Aca	p.P101T	CLEC17A_ENST00000417570.1_Missense_Mutation_p.P101T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P84T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	101						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ACCAAGACCTCCAAGGGCAGG	0.582000													5	12					0.184627	0.186505	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68822238	68822238	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:68822238G>A	ENST00000294309.3	+	3	325	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	TPCN2_ENST00000542467.1_Missense_Mutation_p.R75Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	75					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCTTTACCGACGGTATTAC	0.602000													9	27					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151835944	151835944	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:151835944C>T	ENST00000355193.2	-	59	14969	c.14751G>A	c.(14749-14751)gtG>gtA	p.V4917V	KMT2C_ENST00000485655.2_Silent_p.V65V|KMT2C_ENST00000262189.6_Silent_p.V4860V					lysine (K)-specific methyltransferase 2C																		TCTCAAAAGTCACCACTTCAG	0.428000													20	58					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933123	32933123	+	Silent	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:32933123T>C	ENST00000383763.4	+	4	2490	c.2427T>C	c.(2425-2427)atT>atC	p.I809I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	809					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCGCATCATTGTGGCGGATT	0.602000													92	51					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269754	36269754	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:36269754C>G	ENST00000394571.2	+	6	892	c.892C>G	c.(892-894)Cga>Gga	p.R298G	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	298					lipid catabolic process		hydrolase activity	p.R203G(1)|p.R298G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCAAGCCTTCGAGCACGGCA	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	108					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796588	21796588	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:21796588G>C	ENST00000206660.6	+	18	2901	c.2901G>C	c.(2899-2901)caG>caC	p.Q967H	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q293H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q929H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q624H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q326H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q967H			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	967	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCAGGATCAGATGGCATCTC	0.433000													35	43					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114549558	114549558	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:114549558G>A	ENST00000357389.3	-	4	437	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GAS6_ENST00000327773.6_Silent_p.C95C|GAS6_ENST00000355761.4_Silent_p.C41C			Q14393	GAS6_HUMAN	growth arrest-specific 6	95					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACTTGTTGATGCAGTCTGCAG	0.542000													63	28					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925509	133925509	+	Splice_Site	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4378_splice	c.e20+1	p.C1459_splice	TG_ENST00000377869.1_Splice_Site_p.C1459_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567000													75	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336557	126336557	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:126336557A>G	ENST00000394329.3	+	5	6452	c.6439A>G	c.(6439-6441)Atc>Gtc	p.I2147V	FAT4_ENST00000335110.5_Missense_Mutation_p.I445V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2147	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTACTTGACATCAATGATAA	0.378000													42	27					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374418	182374418	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:182374418A>G	ENST00000397033.2	+	16	2159	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	577					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCAATTCAGATTGAAGCTGC	0.388000													16	76					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68479984	68479984	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:68479984T>G	ENST00000545237.1	+	15	2514	c.1773T>G	c.(1771-1773)ttT>ttG	p.F591L	PIAS1_ENST00000249636.6_Missense_Mutation_p.F589L			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	589	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAGATGTTTCTTGATCAGT	0.507000													35	24					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407459	407459	+	Silent	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:407459G>T	ENST00000431843.2	-	6	897	c.591C>A	c.(589-591)ctC>ctA	p.L197L	SIGIRR_ENST00000332725.3_Silent_p.L197L|SIGIRR_ENST00000397632.3_Silent_p.L197L|SIGIRR_ENST00000531205.1_Silent_p.L197L|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.L197L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	197	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCCAGGAAGAGCTTGTAGC	0.711000													4	7					0.00024832	0.000256942	1	1	0
LHX1	3975	broad.mit.edu	37	17	35299544	35299544	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:35299544G>A	ENST00000254457.5	+	4	2134	c.723G>A	c.(721-723)ctG>ctA	p.L241L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	241					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGAAGCAGCTGAGCGCCCTGG	0.726000													7	9					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275630	238275630	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:238275630C>G	ENST00000295550.4	-	11	5652	c.5200G>C	c.(5200-5202)Gag>Cag	p.E1734Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.E1528Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1528Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1533Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1127Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1534Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1734	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572000													23	34					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15486044	15486044	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:15486044A>G	ENST00000380733.4	-	6	759	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PSIP1_ENST00000397519.2_Missense_Mutation_p.I139T|PSIP1_ENST00000380716.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380738.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380715.1_Missense_Mutation_p.I139T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	139					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGGAGTAGTTATGTCAACTGC	0.328000													69	34					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717278	222717278	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:222717278C>A	ENST00000343410.6	-	2	633	c.575G>T	c.(574-576)cGc>cTc	p.R192L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602000													25	85					6.21321e-17	6.88304e-17	1	1	0
MLXIP	22877	broad.mit.edu	37	12	122618456	122618456	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:122618456A>C	ENST00000319080.6	+	9	1786	c.1654A>C	c.(1654-1656)Aag>Cag	p.K552Q	MLXIP_ENST00000377037.2_Missense_Mutation_p.K142Q|MLXIP_ENST00000538698.1_Missense_Mutation_p.K159Q			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGCAGGCCTAAGCAGCCCCA	0.612000													20	10					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747016	167747016	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:167747016T>C	ENST00000470487.1	-	11	2197	c.1508A>G	c.(1507-1509)gAa>gGa	p.E503G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E475G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	503	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCACCTCCTTCCTCTCCTTG	0.373000													11	118					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31692648	31692648	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:31692648T>G	ENST00000375810.4	+	5	707	c.667T>G	c.(667-669)Tag>Gag	p.*223E	C6orf25_ENST00000375809.3_Intron|C6orf25_ENST00000480039.1_Missense_Mutation_p.D216E|C6orf25_ENST00000375805.2_Intron			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GGGAAGGGGATAGCCAGAATC	0.537000													20	84					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171263	68171263	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:68171263A>G	ENST00000243457.3	+	2	466	c.83A>G	c.(82-84)aAt>aGt	p.N28S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.N28S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	28					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCAGTTGCAAATGGCTTTGGG	0.517000													19	64					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189876410	189876410	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:189876410G>A	ENST00000304636.3	+	51	4481	c.4311G>A	c.(4309-4311)gtG>gtA	p.V1437V	COL3A1_ENST00000317840.5_Silent_p.V1134V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1437	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAAGGCTGTGAGACTACCTA	0.393000													28	25					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918969	12918969	+	Silent	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:12918969C>G	ENST00000240189.2	+	2	192	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	35										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGTGCTCTATCTCCCAC	0.627000													83	57					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28747393	28747393	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:28747393G>A	ENST00000416984.2	-	1	366	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	INTS9_ENST00000397363.4_5'UTR|INTS9_ENST00000521777.1_5'UTR|INTS9_ENST00000521022.1_Silent_p.L3L	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	3					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGACTCACCAGTTTCATAATG	0.527000													12	9					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19335103	19335103	+	Splice_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:19335103G>A	ENST00000307015.9	+	14	1914	c.162_splice	c.e14+1	p.K54_splice	DENND4C_ENST00000540671.1_5'UTR|DENND4C_ENST00000434457.2_Splice_Site_p.K863_splice|DENND4C_ENST00000380432.2_Splice_Site_p.K627_splice|DENND4C_ENST00000602925.1_Splice_Site_p.K863_splice			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	627						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTATAATAAGGTAAGTAGGA	0.328000													5	10					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647402	117647402	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:117647402T>G	ENST00000368508.3	-	33	5740	c.5542A>C	c.(5542-5544)Att>Ctt	p.I1848L	ROS1_ENST00000368507.3_Missense_Mutation_p.I1842L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1848	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTAATATAATATTCTCACTG	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								50	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395596	179395596	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179395596G>A	ENST00000589042.1	-	358	105970	c.105746C>T	c.(105745-105747)tCt>tTt	p.S35249F	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33608F|TTN_ENST00000342992.6_Missense_Mutation_p.S32681F|TTN_ENST00000460472.2_Missense_Mutation_p.S26184F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26376F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26309F|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33608							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S32681C(1)|p.S26184C(1)|p.S26309C(1)|p.S32679C(1)|p.S26376C(1)		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)			TCGTTTTGGAGACTTAACTGC	0.493000													108	26					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135927456	135927456	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:135927456A>G	ENST00000372097.5	+	5	1101	c.778A>G	c.(778-780)Atc>Gtc	p.I260V	GTF3C5_ENST00000372108.5_Missense_Mutation_p.I260V|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.I135V|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I251V	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	260						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTGTTTGACATCCGTCCCAT	0.577000													39	41					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62459953	62459953	+	Silent	SNP	T	T	C	rs148854672	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:62459953T>C	ENST00000383710.4	-	24	3721	c.3372A>G	c.(3370-3372)cgA>cgG	p.R1124R	CADPS_ENST00000283269.9_Silent_p.R1085R|CADPS_ENST00000357948.3_Silent_p.R1045R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1124	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATCTGTTGATCGACTGGTTT	0.413000													6	89					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73437118	73437118	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:73437118C>A	ENST00000263666.4	-	8	1633		c.e8+1		PDZRN3_ENST00000466348.1_Splice_Site|PDZRN3_ENST00000466780.1_Splice_Site|PDZRN3_ENST00000535920.1_Splice_Site|PDZRN3_ENST00000479530.1_Splice_Site|PDZRN3_ENST00000462146.2_Splice_Site	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3								ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCCAATTTACCTGGAGTTCA	0.433000													99	82					1.13762e-57	1.314e-57	1	1	0
PRR23B	389151	broad.mit.edu	37	3	138739168	138739168	+	Silent	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:138739168T>C	ENST00000329447.5	-	1	600	c.336A>G	c.(334-336)tcA>tcG	p.S112S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	112										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCGCTCCTGAGCGTTCGT	0.632000													17	126					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297619	10297619	+	Missense_Mutation	SNP	C	C	T	rs143448404	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:10297619C>T	ENST00000403437.2	-	35	5207	c.5113G>A	c.(5113-5115)Gcc>Acc	p.A1705T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1705					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTGTTCGGCGATTTTCCTG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	94					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	217001937	217001937	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:217001937C>T	ENST00000392133.3	+	13	1701	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	XRCC5_ENST00000392132.2_Missense_Mutation_p.H414Y|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	414	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TCATATCAAGCATAACTATGA	0.368000								Non-homologous end-joining					6	34					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77708282	77708282	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:77708282C>T	ENST00000354212.4	-	21	3941	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R	MAGI2_ENST00000522391.1_Missense_Mutation_p.G1230R|MAGI2_ENST00000419488.1_Missense_Mutation_p.G1216R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1230						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGACCTGTCCCGTGCCTCTC	0.433000													19	126					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938035	75938035	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:75938035C>T	ENST00000307428.7	+	2	656	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	148					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCCCACACTCATCTCCCCTC	0.567000													70	158					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789049	26789049	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26789049G>C	ENST00000381588.4	-	5	1722	c.970C>G	c.(970-972)Cat>Gat	p.H324D	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H324D|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.H324D	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	324	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGGGAATTATGATAAACAGTG	0.413000													32	105					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25174611	25174611	+	Silent	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:25174611G>T	ENST00000276440.7	+	14	1451	c.1407G>T	c.(1405-1407)acG>acT	p.T469T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	469	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGGTGACGATGTCTGTGC	0.498000													101	84					2.54621e-43	2.92962e-43	1	1	0
ATP2A3	489	broad.mit.edu	37	17	3850779	3850779	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:3850779C>T	ENST00000309890.7	-	8	1151	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ATP2A3_ENST00000397041.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R334Q	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	334					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGGCAGGCTTCGCACGATGGC	0.667000													31	94					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128861105	128861105	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:128861105C>A	ENST00000296468.3	-	7	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	MFSD8_ENST00000513559.1_Missense_Mutation_p.D156Y|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	201					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTAATCACATCCCATGTCACA	0.318000													29	11					7.41945e-09	7.86831e-09	1	1	0
DNAJC2	27000	broad.mit.edu	37	7	102968144	102968144	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:102968144A>G	ENST00000379263.3	-	4	639	c.389T>C	c.(388-390)aTa>aCa	p.I130T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.I130T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	130	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCCTTCTTTTATTGGTTCACC	0.328000													18	29					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133045827	133045827	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:133045827A>T	ENST00000207771.3	-	6	1190	c.1118T>A	c.(1117-1119)aTg>aAg	p.M373K	VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTTCTCAGACATCTTGTAAGT	0.378000													36	10					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567417	223567417	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:223567417C>T	ENST00000366875.3	+	1	703	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	200										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGCAAAAGTTCAAGAGGCACT	0.617000													76	83					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180985	65180985	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:65180985G>A	ENST00000310045.7	-	2	2364	c.891C>T	c.(889-891)gtC>gtT	p.V297V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	287						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATACTGTGTGACGGATTTAG	0.383000													16	29					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021581	181021581	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:181021581G>C	ENST00000367580.5	+	4	820	c.815G>C	c.(814-816)aGc>aCc	p.S272T	MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.S227T|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	272	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GATCCTCAGAGCAGCAACCTT	0.522000													14	66					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228124545	228124545	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:228124545G>A	ENST00000396578.3	+	19	1228	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	356	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGGAGATGAAGGCACTCC	0.433000													26	60					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326054	63326054	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:63326054G>A	ENST00000255695.1	-	3	255	c.197C>T	c.(196-198)tCt>tTt	p.S66F		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	66					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCCACCACAGACAGCAGTTC	0.522000													80	84					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237837428	237837428	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:237837428G>C	ENST00000366574.2	+	59	8940	c.8623G>C	c.(8623-8625)Gat>Cat	p.D2875H	RYR2_ENST00000360064.6_Missense_Mutation_p.D2873H|RYR2_ENST00000542537.1_Missense_Mutation_p.D2859H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2875	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGCCCTATGATACACTGAC	0.418000													11	62					0	0	1	0	0
OR4F5	79501	broad.mit.edu	37	1	69561	69561	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:69561G>A	ENST00000335137.3	+	1	471	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGTTTGCCGTGCACTTACTCT	0.458000													144	43					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52897049	52897049	+	Silent	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:52897049A>C	ENST00000371544.3	-	28	4606	c.4344T>G	c.(4342-4344)tcT>tcG	p.S1448S	ZCCHC11_ENST00000257177.4_Silent_p.S1449S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1448	Gln-rich.|Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCCTGGCTGAGATGAAGGCT	0.512000													33	30					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132435637	132435637	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:132435637T>C	ENST00000326682.8	-	4	863	c.787A>G	c.(787-789)Ata>Gta	p.I263V	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000337331.5_Missense_Mutation_p.I263V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	263					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACATCTATAGAACTATGG	0.433000													25	37					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110466951	110466951	+	Splice_Site	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:110466951G>C	ENST00000378402.5	+	45	6848		c.e45-1			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)			ATCTTTTGCAGATTGGAACAG	0.423000										HNSCC(38;0.096)			50	62					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378000													4	32					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151785676	151785676	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785676C>T	ENST00000367294.3	+	4	740	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	C6orf211_ENST00000545879.1_Missense_Mutation_p.H42Y|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	161			H -> P (in dbSNP:rs36037706).				protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTTATGTACTCACCTGCAACA	0.333000													6	20					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26528988	26528989	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:26528988_26528989delCT	ENST00000456354.2	+	10	1441_1442	c.1374_1375delCT	c.(1372-1377)gactfs	p.DS458fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	458					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTCATGACTCTAGCTCACA	0.554													8	8	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585095	175585095	+	RNA	DEL	T	T	-	rs112662182		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:175585095delT	ENST00000442996.1	+	0	217																											AAAAAAAAAATTTCTCTTCTT	0.373													4	9	---	---	---	---					
ROBO1	6091	broad.mit.edu	37	3	78763559	78763559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:78763559delG	ENST00000436010.2	-	6	1913	c.916delC	c.(916-918)tgfs	p.L306fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.L306fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.L345fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.L306fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	345	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAACAGTCAGAGTAGCAGAT	0.388													19	17	---	---	---	---					
GOLGB1	2804	broad.mit.edu	37	3	121414722	121414724	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:121414722_121414724delGAA	ENST00000393667.3	-	13	4756_4758	c.4646_4648delTTC	c.(4645-4650)caa>c	p.LQ1549del	GOLGB1_ENST00000340645.5_In_Frame_Del_p.LQ1544del	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1544					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTCTTCTTGAAGAAGAGCTAA	0.414													25	123	---	---	---	---					
SLC22A23	63027	broad.mit.edu	37	6	3290057	3290058	+	Frame_Shift_Ins	INS	-	-	A	rs146003925	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:3290057_3290058insA	ENST00000436008.2	-	6	1715_1716	c.1253_1254insT	c.(1252-1254)agtfs	p.S418fs	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000490273.1_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000406686.3_Frame_Shift_Ins_p.S418fs			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	418					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CCACCTTCACGATGCAGACCTT	0.599													34	20	---	---	---	---					
RP11-340I6.7	0	broad.mit.edu	37	7	63351409	63351409	+	RNA	DEL	G	G	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:63351409delG	ENST00000587736.1	-	0	688																											CCACCCCAATGGCCCAGGGGG	0.627													3	4	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													4	7	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974695	21974696	+	Frame_Shift_Ins	INS	-	-	TAAC			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21974695_21974696insTAAC	ENST00000304494.5	-	1	401_402	c.131_132insGTTA	c.(130-132)tggfs	p.W44fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCGG	0.683		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			78	102	---	---	---	---					
BRINP1	1620	broad.mit.edu	37	9	121929931	121929931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:121929931delC	ENST00000265922.3	-	8	2178	c.1717delG	c.(1717-1719)agfs	p.E573fs	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		573					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTCCAGCCCTCCGAATGGCTC	0.557													30	39	---	---	---	---					
CCDC87	55231	broad.mit.edu	37	11	66359859	66359863	+	Frame_Shift_Del	DEL	GGATA	GGATA	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66359859_66359863delGGATA	ENST00000333861.3	-	1	691_695	c.624_628delTATCC	c.(622-630)ccccfs	p.PIP208fs		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	208										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGAGGCCAGGGGATAGGGCACAGCT	0.605													11	59	---	---	---	---					
TCHP	84260	broad.mit.edu	37	12	110350876	110350877	+	Splice_Site	INS	-	-	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:110350876_110350877insG	ENST00000312777.5	+	10	1347_1348	c.1134_splice	c.e10+1	p.G378_splice	TCHP_ENST00000405876.4_Splice_Site_p.G378_splice	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	378	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTGATGAGCGAGGTAATCCCAG	0.604													45	15	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)cag>ca	p.HQ108del	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													3	3	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450787	23450788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:23450787_23450788insA	ENST00000262713.2	-	1	1063_1064	c.688_689insT	c.(688-690)gtafs	p.V230fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.V230fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	230	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGGGGGATACGAGTGGCGGCTT	0.743													12	2	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68771348	68771350	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:68771348_68771350delGCT	ENST00000261769.5	+	1	221_223	c.30_32delGCT	c.(28-33)gcg>gc	p.AL10del	CDH1_ENST00000422392.2_In_Frame_Del_p.AL10del	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	10				A -> G (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.L8fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCTCGGCGCTGCTGCTGCTG	0.764			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578376	7578379	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs150607408		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:7578376_7578379delCTAT	ENST00000420246.2	-	5	683_686	c.551_554delATAG	c.(550-555)gcfs	p.DS184fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DS184fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	184	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		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.0?(8)|p.S185fs*62(3)|p.R174fs*24(3)|p.S185G(2)|p.?(2)|p.D184D(2)|p.V173fs*59(2)|p.R42fs*24(1)|p.S185T(1)|p.D184fs*2(1)|p.S185fs*63(1)|p.R81fs*24(1)|p.E180_S183del(1)|p.D184fs*62(1)|p.S185C(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.S185_D186delSD(1)|p.S185I(1)|p.S185N(1)|p.D184fs*24(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)		CTCACCATCGCTATCTGAGCAGCG	0.652		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)			46	27	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29192759	29192760	+	Frame_Shift_Ins	INS	-	-	CAAC			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29192759_29192760insCAAC	ENST00000321990.4	+	11	3552_3553	c.3174_3175insCAAC	c.(3172-3177)taaaccfs	p.*T1058fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1058					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.Q1059*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAAAAGTATCAACCTCAGAC	0.292													18	46	---	---	---	---					
ZNF440	126070	broad.mit.edu	37	19	11942632	11942633	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11942632_11942633delTA	ENST00000304060.5	+	4	805_806	c.641_642delTA	c.(640-642)tfs	p.L214fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCTCAGATTATATCTTATCC	0.361													24	41	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61680511	61680512	+	RNA	INS	-	-	CT	rs72196406		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:61680511_61680512insCT	ENST00000607802.1	+	0	91				RP11-305P22.5_ENST00000455711.1_lincRNA	NR_033370.1																						tcctcttcctccctcctcttcc	0.609													2	4	---	---	---	---