Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZP4	57829	broad.mit.edu	37	1	238049104	238049104	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:238049104G>A	uc001hym.3	-	6	1209	c.922C>T	c.(922-924)Cct>Tct	p.P308S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	308	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGGTCTCAGGAAAGGGTGGT	0.502000														64			18		0	0	0.000958276	0	0
NALCN	259232	broad.mit.edu	37	13	102029401	102029401	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:102029401C>T	uc001vox.1	-	4	571	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.E128K|NALCN_uc001vpa.2_Missense_Mutation_p.E128K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	128						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAGCAATTTCAAACACCTAC	0.408000														21			18		0	0	0.00152264	0	0
GRP	2922	broad.mit.edu	37	18	56892886	56892886	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:56892886C>T	uc002lhv.3	+	1	400	c.302C>T	c.(301-303)cCc>cTc	p.P101L	GRP_uc002lhu.3_Missense_Mutation_p.P101L|GRP_uc002lhw.3_Missense_Mutation_p.P101L	NM_002091	NP_002082	P07492	GRP_HUMAN	Homo sapiens gastrin-releasing peptide (GRP), transcript variant 1, mRNA.	101					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CCACCTCAACCCAAGGCCCTG	0.483000														68			34		0	0	0.000953801	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283674	47283674	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47283674G>A	uc001cqn.4	+	9	1329	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	CYP4B1_uc001cqm.4_Silent_p.R414R|CYP4B1_uc009vym.3_Silent_p.R400R|CYP4B1_uc010omk.2_Silent_p.R251R	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	414					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCTCCATAGGAACAGTGCTG	0.587000														49			27		0	0	0.00106085	0	0
FAM5C	339479	broad.mit.edu	37	1	190203593	190203593	+	Silent	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:190203593C>A	uc001gse.1	-	4	865	c.633G>T	c.(631-633)cgG>cgT	p.R211R	FAM5C_uc010pot.1_Silent_p.R109R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	211						extracellular region		p.R211Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGGACCAGTCCGTGTTTCTG	0.388000														98			32		2.81731e-10	2.1302e-09	0.000339439	1	0
UNC13A	23025	broad.mit.edu	37	19	17752324	17752324	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:17752324G>A	uc021uqk.1	-	20	2553	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGATCTTCACGACCCCATTGT	0.577000														25			16		0	0	0.000958276	0	0
OR2K2	26248	broad.mit.edu	37	9	114089898	114089898	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:114089898G>A	uc011lwp.2	-	0	816	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GCAACGAGATGATTTTGTCTA	0.408000														40			17		0	0	0.000422831	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826994	96826994	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96826994C>T	uc001kkb.3	-	2	547	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	CYP2C8_uc010qoa.2_Missense_Mutation_p.C81Y|CYP2C8_uc010qoc.2_Missense_Mutation_p.C49Y|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.C65Y|CYP2C8_uc021pwl.1_Missense_Mutation_p.C81Y|CYP2C8_uc010qod.1_Missense_Mutation_p.C65Y	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	151					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTCCACAAGGCAGTGAGCTTC	0.498000														66			41		0	0	0.000781405	0	0
IDO1	3620	broad.mit.edu	37	8	39782753	39782753	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:39782753A>G	uc003xnm.3	+	8	833	c.719A>G	c.(718-720)aAc>aGc	p.N240S		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	240					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGGAAAGGCAACCCCCAGCTA	0.448000														20			6		0	0	0.00116845	0	0
BC128131	0	broad.mit.edu	37	19	23159633	23159633	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:23159633C>T	uc002nqz.1	-	1	340	c.314G>A	c.(313-315)gGa>gAa	p.G105E	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		AAGTTTCTTTCCAGTATGCCT	0.294000														25			7		0	0	8.12818e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				76			32		0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179589021C>T	uc021vsy.1	-	68	17574	c.17349G>A	c.(17347-17349)ggG>ggA	p.G5783G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2444G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6710	Ig-like 38.						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)			AGCTGCTTTTCCCAACATTAT	0.383000														26			16		0	0	0.000958276	0	0
ASXL3	80816	broad.mit.edu	37	18	31324164	31324164	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31324164G>A	uc010dmg.1	+	11	4407	c.4352G>A	c.(4351-4353)gGa>gAa	p.G1451E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1158E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATAATTCTGGAAAACCTCAG	0.478000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			51		0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661302	176661302	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:176661302C>T	uc001gkz.3	+	5	3636	c.2472C>T	c.(2470-2472)gcC>gcT	p.A824A	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	824					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						ACCAAGTGGCCCGAATGCATT	0.483000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			18		0	0	0.00152264	0	0
SETBP1	26040	broad.mit.edu	37	18	42533069	42533069	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:42533069C>T	uc010dni.3	+	3	4060	c.3764C>T	c.(3763-3765)cCt>cTt	p.P1255L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1255						nucleus	DNA binding	p.T1254K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCAGTGAGCCTGTGGACTCA	0.517000									Schinzel-Giedion syndrome					21			18		0	0	0.000229342	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:1926121G>A	uc002qxe.3	-	9	2247	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_uc002qxd.3_Missense_Mutation_p.P474S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P474P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000														59			36		0	0	0.000953801	0	0
UBE2O	63893	broad.mit.edu	37	17	74398146	74398146	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:74398146G>A	uc002jrm.4	-	5	815	c.750_splice	c.e5+1	p.S250_splice	UBE2O_uc002jrn.4_Splice_Site_p.S250_splice|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	250							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACACTACCGAGTCGCTGAC	0.567000														27			8		0	0	0.000442599	0	0
DOCK3	1795	broad.mit.edu	37	3	50816191	50816191	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:50816191T>G	uc011bds.2	+	2	144	c.121_splice	c.e2+2	p.G41_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	41	SH3.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATGTGAAGGTGAGTATGGAC	0.358000														5			5		0	0	0.000602214	0	0
CARD8	22900	broad.mit.edu	37	19	48733815	48733815	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:48733815G>A	uc010xzj.2	-	6	958	c.915C>T	c.(913-915)atC>atT	p.I305I	CARD8_uc002pii.4_Silent_p.I305I|CARD8_uc010xzi.1_Silent_p.I200I|CARD8_uc010els.3_Silent_p.I238I|CARD8_uc010xzk.2_Silent_p.I224I|CARD8_uc002pie.4_Silent_p.I199I|CARD8_uc002pif.4_Silent_p.I199I|CARD8_uc021uwq.1_Silent_p.I199I|CARD8_uc021uwr.1_Silent_p.I199I|CARD8_uc002pig.4_Silent_p.I30I|CARD8_uc002pih.4_Silent_p.I255I|CARD8_uc010xzl.2_Silent_p.I255I|CARD8_uc010xzm.2_Silent_p.I305I	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	199					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCACTGGCGATCCGCAGCA	0.547000														23			18		0	0	0.000566183	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958193	72958193	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:72958193C>T	uc010uks.1	+	15	1808	c.1767C>T	c.(1765-1767)gtC>gtT	p.V589V	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	589										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TGGAGGATGTCATCAGGCTGG	0.622000														91			7		0	0	0.00127121	0	0
MLXIP	22877	broad.mit.edu	37	12	122622068	122622068	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:122622068C>T	uc001ubq.3	+	11	2193	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	MLXIP_uc001ubt.3_Silent_p.S302S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	695					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)		CGGAGCAGAGCCCCAGTCCTC	0.597000														27			24		0	0	0.00047179	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									42			16		0	0	0.000566183	0	0
CASC1	55259	broad.mit.edu	37	12	25311445	25311445	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:25311445C>T	uc001rgk.3	-	3	241	c.159G>A	c.(157-159)caG>caA	p.Q53Q	CASC1_uc001rgj.3_Silent_p.Q7Q|CASC1_uc001rgm.4_Silent_p.Q111Q|CASC1_uc001rgl.3_Silent_p.Q47Q|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Silent_p.Q47Q|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	47	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTCAATTCGCTGTATTTCAA	0.294000														37			20		0	0	0.000375601	0	0
USP8	9101	broad.mit.edu	37	15	50786354	50786354	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:50786354C>T	uc001zym.4	+	16	3035	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	USP8_uc001zyl.4_Silent_p.I845I|USP8_uc001zyn.4_Silent_p.I845I|USP8_uc010ufh.2_Silent_p.I739I|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_Silent_p.I12I	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	845					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATAGATATATCAGTCCAAAGG	0.393000														66			45		0	0	0.000589545	0	0
CLYBL	171425	broad.mit.edu	37	13	100511253	100511253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:100511253C>T	uc001vok.3	+	2	419	c.388C>T	c.(388-390)Cct>Tct	p.P130S	CLYBL_uc010tix.2_Missense_Mutation_p.P130S|CLYBL_uc010tiy.2_Missense_Mutation_p.P130S	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	130					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.P130T(2)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGGGTCCTTCCTTCCAGCCT	0.498000														14			12		0	0	0.000151284	0	0
SLIT2	9353	broad.mit.edu	37	4	20493518	20493518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:20493518G>A	uc003gpr.1	+	8	1114	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLIT2_uc003gps.1_Missense_Mutation_p.E304K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	304					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						GACCATCACAGAAATGTATGT	0.458000														37			25		0	0	0.00178596	0	0
GPR55	9290	broad.mit.edu	37	2	231775270	231775270	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:231775270C>T	uc021vxz.1	-	0	408	c.408G>A	c.(406-408)agG>agA	p.R136R	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.R136R|GPR55_uc010fxs.1_Silent_p.R136R	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	136					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.P135P(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CAAAGATCTTCCTGGGGGACC	0.542000														26			13		0	0	0.00136819	0	0
KCNG4	93107	broad.mit.edu	37	16	84270534	84270534	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:84270534C>T	uc010voc.2	-	1	679	c.558G>A	c.(556-558)caG>caA	p.Q186Q	KCNG4_uc002fhu.1_Silent_p.Q186Q	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCTCCCTCTGCTGCCTCAGTA	0.692000														7			14		0	0	0.000219431	0	0
LPHN3	23284	broad.mit.edu	37	4	62903453	62903453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:62903453G>A	uc010ihh.3	+	20	3565	c.3392G>A	c.(3391-3393)cGa>cAa	p.R1131Q	LPHN3_uc003hcq.4_Missense_Mutation_p.R1131Q|LPHN3_uc003hct.3_Missense_Mutation_p.R515Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1109					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R1131*(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGCTAGGTACGAAAAGAGTAT	0.373000														53			45		0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62285110	62285110	+	Silent	SNP	G	T	T	rs146987841		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:62285110G>T	uc001ntl.3	-	4	17079	c.16779C>A	c.(16777-16779)tcC>tcA	p.S5593S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5593	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTCACCCCCGGAACCTTTAA	0.532000														118			6		0.00116845	0.00867058	0.00116845	1	0
MAML3	55534	broad.mit.edu	37	4	140810856	140810856	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:140810856G>A	uc021xsg.1	-	1	2486	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	574	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCTGCTGATTGATCATATTCA	0.413000														239			143		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179542585	179542585	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179542585G>A	uc021vsy.1	-	142	30547	c.30322C>T	c.(30322-30324)Cta>Tta	p.L10108L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L6769L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11035	Glu-rich.						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)			TCTTCAAATAGAACTTCCTCT	0.398000														71			51		0	0	0.000781405	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508931	102508931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:102508931C>T	uc003kod.4	+	19	2878	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R787C|PPIP5K2_uc003kof.3_Missense_Mutation_p.R88C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	787					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R787C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAGAAAAATTCGCTCAGACCT	0.353000														48			22		0	0	0.000375601	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350603	134350603	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:134350603C>T	uc004can.4	+	14	3142	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A	PRRC2B_uc010mzj.1_Silent_p.A612A|PRRC2B_uc004cao.4_Silent_p.A387A	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1029							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGACAAGGCCTGGGAAGCCA	0.552000														15			10		0	0	0.00136819	0	0
GFOD1	54438	broad.mit.edu	37	6	13365563	13365563	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:13365563G>A	uc003nat.2	-	1	1332	c.585C>T	c.(583-585)gtC>gtT	p.V195V	GFOD1_uc021ylt.1_Silent_p.V92V|GFOD1_uc003nas.2_Silent_p.V92V	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	195						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GCAGCCCGTGGACCTTGACGG	0.612000														29			19		0	0	0.00074312	0	0
CACNA1E	777	broad.mit.edu	37	1	181767666	181767666	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:181767666C>T	uc009wxt.3	+	47	6833	c.6638C>T	c.(6637-6639)tCt>tTt	p.S2213F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2170F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2151F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2213					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTTCCAACTCTCCGCACCCC	0.622000														19			45		0	0	0.000781405	0	0
PTGER3	5733	broad.mit.edu	37	1	71478162	71478162	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:71478162C>T	uc001dfn.3	-	1	1134	c.903G>A	c.(901-903)atG>atA	p.M301I	PTGER3_uc001dfg.1_Missense_Mutation_p.M301I|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.M301I|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.M301I|PTGER3_uc009wbm.1_Missense_Mutation_p.M301I|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.M301I|PTGER3_uc009wbo.3_Missense_Mutation_p.M301I|PTGER3_uc001dfo.3_Missense_Mutation_p.M301I|PTGER3_uc001dfp.1_Missense_Mutation_p.M301I|PTGER3_uc001dfq.3_Missense_Mutation_p.M301I	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	301					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TTTTCAACATCATTATCTAAG	0.368000														33			24		0	0	0.000586117	0	0
EBF3	253738	broad.mit.edu	37	10	131638545	131638545	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:131638545G>A	uc021qav.1	-	14	1755	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	EBF3_uc001lki.2_Missense_Mutation_p.P530S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	575	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.P575S(1)|p.P530S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTGCAGGAAGGAGGAGGAGAG	0.642000														4			5		0	0	0.000157383	0	0
GLP1R	2740	broad.mit.edu	37	6	39040656	39040656	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:39040656G>A	uc003ooj.4	+	5	588	c.528G>A	c.(526-528)agG>agA	p.R176R	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	176					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R176R(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ACTGCACCAGGAACTACATCC	0.552000														79			21		0	0	0.00047179	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701378	56701378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:56701378C>T	uc010ygh.2	-	3	1306	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G435R(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCCTCTCCCCGGTGTGG	0.562000														25			16		0	0	0.00074312	0	0
TCRA	0	broad.mit.edu	37	14	22363157	22363157	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22363157G>A	uc021rpj.1	+	1	459	c.288G>A	c.(286-288)acG>acA	p.T96T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TCCACCTGACGAAACCCTCAG	0.507000														43			57		0	0	0.000781405	0	0
HSPA5	3309	broad.mit.edu	37	9	128003395	128003395	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:128003395G>A	uc004bpn.3	-	0	272	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	4					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GGCCACCAGGGAGAGCTTCAT	0.677000										Prostate(1;0.17)				27			22		0	0	0.000375601	0	0
AK7	122481	broad.mit.edu	37	14	96944945	96944945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:96944945G>A	uc001yfn.2	+	14	1743	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	567					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.D566G(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAATATCGACGATGAGACTGT	0.478000														24			20		0	0	0.000229342	0	0
CTSH	1512	broad.mit.edu	37	15	79231504	79231504	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:79231504T>A	uc021srk.1	-	1	198	c.101A>T	c.(100-102)cAc>cTc	p.H34L	CTSH_uc010unf.1_Non-coding_Transcript|CTSH_uc010ung.1_Missense_Mutation_p.H34L	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	34					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGACTTGAAGTGAAACTTCTC	0.358000														131			16		0	0	0.000958276	0	0
TSPAN5	10098	broad.mit.edu	37	4	99428861	99428861	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:99428861G>C	uc003hub.3	-	1	535	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	TSPAN5_uc011cdz.2_5'UTR	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	34						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CCAATTCCAAGAAATGTTATT	0.328000														100			16		0	0	0.00121646	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552513	1552513	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:1552513C>T	uc010gai.3	-	2	703	c.604G>A	c.(604-606)Gac>Aac	p.D202N	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	202	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GACACACTGTCTCCTGCGGGG	0.557000														36			21		0	0	0.00106085	0	0
XYLT1	64131	broad.mit.edu	37	16	17211628	17211628	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:17211628G>T	uc002dfa.3	-	10	2517	c.2432C>A	c.(2431-2433)cCt>cAt	p.P811H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	811					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.P810S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGTTCAAAGGGGGCTTGTA	0.552000														29			42		1.0096e-33	7.67331e-33	0.000781405	1	0
FPR2	2358	broad.mit.edu	37	19	52272426	52272426	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:52272426G>A	uc002pxr.3	+	1	560	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR2_uc002pxs.4_Missense_Mutation_p.G172E|FPR2_uc010epf.3_Missense_Mutation_p.G172E|FPR2_uc021uyp.1_Missense_Mutation_p.G172E	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	172					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G172W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATTCCAAATGGGGACACATAC	0.502000														52			34		0	0	0.00058488	0	0
PEAR1	375033	broad.mit.edu	37	1	156880096	156880096	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:156880096G>A	uc001fqj.1	+	13	1865	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	PEAR1_uc001fqk.1_Silent_p.K208K	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	583	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCACCTGCAAGAATGGGGGCA	0.637000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			123		0	0	0.000781405	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931051	157931051	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:157931051G>A	uc003wno.3	-	6	1188	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	PTPRN2_uc003wnp.3_Missense_Mutation_p.A339V|PTPRN2_uc003wnq.3_Missense_Mutation_p.A356V|PTPRN2_uc003wnr.3_Missense_Mutation_p.A318V|PTPRN2_uc011kwa.2_Missense_Mutation_p.A379V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	356						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A355T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCCCAGGGCCGCTCTCCC	0.672000														24			21		0	0	0.000229342	0	0
AGAP7	653268	broad.mit.edu	37	10	51464892	51464892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:51464892C>T	uc001jio.3	-	6	1690	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	522	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTGCTCCCTTCCCAGATGCTG	0.542000														127			39		0	0	0.00111076	0	0
POT1	25913	broad.mit.edu	37	7	124493162	124493162	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:124493162G>A	uc003vlm.3	-	9	1334	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.H114Y	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	245					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGTTTGGTATGAAGGCTATAG	0.323000														25			27		0	0	0.00127121	0	0
LRP1B	53353	broad.mit.edu	37	2	141607715	141607715	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:141607715C>T	uc002tvj.1	-	28	5867	c.4895G>A	c.(4894-4896)cGa>cAa	p.R1632Q	LRP1B_uc010fnl.1_Missense_Mutation_p.R814Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1632					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)		AATAAAAGCTCGTTTAATGGT	0.333000										TSP Lung(27;0.18)				59			34		0	0	0.00128727	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123060	12123060	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:12123060T>C	uc003nac.3	+	3	3211	c.3032T>C	c.(3031-3033)cTa>cCa	p.L1011P	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1011					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTCAGATTCTACACTACAGA	0.488000														83			168		0	0	0.000781405	0	0
OR1L8	138881	broad.mit.edu	37	9	125330004	125330004	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125330004G>A	uc004bmp.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCATAAAAGAGCGTCACCA	0.463000														22			10		0	0	0.000673444	0	0
XIST	7503	broad.mit.edu	37	X	73071002	73071002	+	RNA	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:73071002C>T	uc004ebm.1	-	0		c.1587G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTCCATCCCACCTTTTCTCCC	0.498000														18			79		0	0	0.000781405	0	0
CHL1	10752	broad.mit.edu	37	3	407668	407668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:407668C>T	uc003bot.3	+	14	2263	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	CHL1_uc003bou.3_Missense_Mutation_p.R525C|CHL1_uc003bow.2_Missense_Mutation_p.R525C|CHL1_uc011asi.2_Missense_Mutation_p.R541C|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	525	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P540>?(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAAGAATCCTCGTATCCCCAA	0.353000														20			18		0	0	0.000958276	0	0
MAST3	23031	broad.mit.edu	37	19	18232516	18232516	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:18232516G>C	uc002nhz.4	+	2	93	c.93G>C	c.(91-93)aaG>aaC	p.K31N		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	31							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAACCGCAAGAGCTTGGTGG	0.677000														35			15		0	0	0.000566183	0	0
TRIM33	51592	broad.mit.edu	37	1	115006056	115006056	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:115006056G>A	uc001eew.3	-	2	852	c.768C>T	c.(766-768)atC>atT	p.I256I	TRIM33_uc010ows.2_5'UTR|TRIM33_uc001eex.3_Silent_p.I256I	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	256					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTTCCTGATCAAGTGAT	0.353000			T	RET	papillary thyroid									59			29		0	0	0.001512	0	0
ZNF679	168417	broad.mit.edu	37	7	63721296	63721296	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:63721296C>T	uc003tsx.3	+	3	520	c.251C>T	c.(250-252)aCc>aTc	p.T84I		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGATGGTAACCAAACACCCA	0.418000														22			4		0	0	0.00024832	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568215	7568215	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:7568215C>T	uc002cys.2	+	4	1082	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	RBFOX1_uc010buf.1_Missense_Mutation_p.P32S|RBFOX1_uc002cyr.1_Missense_Mutation_p.P32S|RBFOX1_uc002cyt.2_Missense_Mutation_p.P32S|RBFOX1_uc010uxz.1_Missense_Mutation_p.P75S|RBFOX1_uc010uya.1_Missense_Mutation_p.P68S|RBFOX1_uc002cyv.1_Missense_Mutation_p.P32S|RBFOX1_uc010uyb.1_Missense_Mutation_p.P32S|RBFOX1_uc002cyw.2_Missense_Mutation_p.P52S|RBFOX1_uc002cyy.2_Missense_Mutation_p.P52S|RBFOX1_uc002cyx.2_Missense_Mutation_p.P52S|RBFOX1_uc010uyc.1_Missense_Mutation_p.P52S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	32					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGTTTGCTCCCCCGCAGAA	0.587000														69			34		0	0	0.00058488	0	0
SPAM1	6677	broad.mit.edu	37	7	123593738	123593738	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:123593738C>T	uc003vle.3	+	2	553	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F38F|SPAM1_uc022aks.1_Silent_p.F38F|SPAM1_uc003vlf.4_Silent_p.F38F|SPAM1_uc010lku.3_Silent_p.F38F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	38					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.N37T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCTGAATTTCAGAGCACCTC	0.413000														31			21		0	0	0.000375601	0	0
CCDC170	80129	broad.mit.edu	37	6	151869443	151869443	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:151869443G>A	uc003qol.3	+	4	682	c.593G>A	c.(592-594)aGa>aAa	p.R198K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	198								p.R198K(1)									CTTCAGCTTAGAGACCTGCGC	0.343000														18			13		0	0	0.00074312	0	0
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:42259489C>T	uc022aul.1	+	5	512	c.510C>T	c.(508-510)ttC>ttT	p.F170F	VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	169					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463000														26			18		0	0	0.00074312	0	0
OR5A2	219981	broad.mit.edu	37	11	59190346	59190346	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59190346G>A	uc010rkt.2	-	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACATGAAAAGGAAAATCTTCA	0.453000														45			38		0	0	0.00128727	0	0
C20orf85	128602	broad.mit.edu	37	20	56728607	56728607	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:56728607C>G	uc002xyv.3	+	1	114	c.76C>G	c.(76-78)Cgt>Ggt	p.R26G		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	26			R -> H (in dbSNP:rs16984945).					p.R26S(2)|p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CAGGAAATACCGTCTGAAGGC	0.483000														59			28		0	0	0.000953801	0	0
ZNF143	7702	broad.mit.edu	37	11	9530248	9530248	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:9530248C>T	uc001mhr.3	+	11	1349	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	ZNF143_uc009yfu.3_Silent_p.V409V|ZNF143_uc010rby.2_Silent_p.V379V	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	410					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ATCATGTTGTCCACACTCATT	0.443000														21			11		0	0	0.000978159	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798740	96798740	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96798740G>A	uc001kkb.3	-	7	1300	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	CYP2C8_uc010qoa.2_Missense_Mutation_p.P332L|CYP2C8_uc010qoc.2_Missense_Mutation_p.P300L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P316L|CYP2C8_uc021pwl.1_Missense_Mutation_p.P332L|CYP2C8_uc010qod.1_3'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	402					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTTGGATTAGGAAATTCTTT	0.378000														42			25		0	0	0.000720815	0	0
TBC1D29	26083	broad.mit.edu	37	17	28889909	28889909	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:28889909G>A	uc002hfh.3	+	3	892	c.201G>A	c.(199-201)aaG>aaA	p.K67K	TBC1D29_uc002hfi.3_Intron|DQ575791_uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	67						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				AAACTAACAAGGAAACATGGG	0.493000														30			11		0	0	0.000219431	0	0
ASB18	401036	broad.mit.edu	37	2	237149963	237149963	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:237149963C>T	uc010znh.2	-	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I	ASB18_uc010fyp.1_Missense_Mutation_p.M67I	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	96					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCTGCCATTCCATCTCATCCT	0.488000														56			24		0	0	0.000586117	0	0
HOXD4	3233	broad.mit.edu	37	2	177017509	177017509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:177017509C>T	uc002uks.3	+	1	856	c.607C>T	c.(607-609)Cag>Tag	p.Q203*		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GATCTGGTTCCAGAACCGGAG	0.493000														26			20		0	0	0.000229342	0	0
LAMA2	3908	broad.mit.edu	37	6	129636653	129636653	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:129636653C>T	uc021zfb.1	+	24	3693	c.3588C>T	c.(3586-3588)ccC>ccT	p.P1196P	LAMA2_uc003qbn.3_Silent_p.P1196P|LAMA2_uc003qbo.3_Silent_p.P1196P	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1196	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATTCTACCCCTGGTAGATG	0.463000														42			27		0	0	0.00106085	0	0
OR13C4	138804	broad.mit.edu	37	9	107289149	107289149	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:107289149G>A	uc011lvn.2	-	0	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCATGCCAAGGAGGAAACATT	0.438000														52			38		0	0	0.00170553	0	0
FGD2	221472	broad.mit.edu	37	6	36979567	36979567	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:36979567C>T	uc010jwp.1	+	3	635	c.464C>T	c.(463-465)tCc>tTc	p.S155F	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	155	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAACATCTCCTCCATCTAT	0.592000														59			17		0	0	0.000958276	0	0
ABCF3	55324	broad.mit.edu	37	3	183907661	183907661	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:183907661C>T	uc003fmz.2	+	13	1466	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	ABCF3_uc003fna.2_Missense_Mutation_p.R439C|ABCF3_uc003fnb.2_Missense_Mutation_p.R126C	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	445							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACCGGTTTCGCTACAATGC	0.557000														22			18		0	0	0.00152264	0	0
ARID2	196528	broad.mit.edu	37	12	46215212	46215212	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:46215212C>T	uc001ros.1	+	5	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ARID2_uc001ror.3_Missense_Mutation_p.S216F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	216					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTTTAGGATCCTTTTCCACT	0.254000			"""N, S, F"""		hepatocellular carcinoma									93			48		0	0	0.000781405	0	0
ADAM29	11086	broad.mit.edu	37	4	175897079	175897079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:175897079G>A	uc003iuc.3	+	4	1073	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ADAM29_uc003iud.3_Missense_Mutation_p.E135K|ADAM29_uc010irr.3_Missense_Mutation_p.E135K|ADAM29_uc011cki.2_Missense_Mutation_p.E135K|ADAM29_uc021xuo.1_Missense_Mutation_p.E135K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	135					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTTTGCTTATGAAATCAAGCC	0.413000														42			24		0	0	0.000586117	0	0
GABRB1	2560	broad.mit.edu	37	4	47427982	47427982	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:47427982C>T	uc003gxh.3	+	8	1746	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	GABRB1_uc011bze.2_Missense_Mutation_p.P388S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	458					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGTTTTTCCCCATCACCTT	0.453000														46			34		0	0	0.000437636	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871252	54871252	+	Missense_Mutation	SNP	G	A	A	rs41277453		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:54871252G>A	uc003dhf.3	+	14	1513	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E395K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E223K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	489	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAAGCAGAACGAAACCGTGAG	0.517000														90			48		0	0	0.000781405	0	0
CECR2	27443	broad.mit.edu	37	22	18020395	18020395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:18020395C>T	uc010gqw.1	+	12	1718	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L	CECR2_uc010gqv.1_Missense_Mutation_p.P434L|CECR2_uc002zml.2_Missense_Mutation_p.P434L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	617					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCACACAGCCCCCGCGGGAG	0.602000														20			9		0	0	0.000442599	0	0
CLCA4	22802	broad.mit.edu	37	1	87045664	87045664	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:87045664A>T	uc009wcs.3	+	13	2440	c.2396A>T	c.(2395-2397)gAt>gTt	p.D799V	CLCA4_uc009wct.3_Missense_Mutation_p.D562V|CLCA4_uc009wcu.3_Missense_Mutation_p.D619V	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	799						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGTATTCTTGATCTAAGAGAC	0.338000														41			23		0	0	0.000295444	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182231	182231	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:182231C>T	uc003jak.2	+	17	3659	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1203	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCAGCCAGTCCTCCTCCATCC	0.647000														25			17		0	0	0.000566183	0	0
IQUB	154865	broad.mit.edu	37	7	123092935	123092935	+	Silent	SNP	G	A	A	rs141358866		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:123092935G>A	uc003vkn.3	-	12	2815	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	IQUB_uc011kny.2_Silent_p.I79I|IQUB_uc003vko.3_Silent_p.I746I|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	746										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCTTAGCCAGGATATGTTTGT	0.343000														16			13		0	0	0.000219431	0	0
EPHA6	285220	broad.mit.edu	37	3	97202786	97202786	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:97202786C>T	uc010how.1	+	9	2126	c.2083C>T	c.(2083-2085)Ccg>Tcg	p.P695S	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.P61S|EPHA6_uc003drs.4_Missense_Mutation_p.P87S|EPHA6_uc003drr.4_Missense_Mutation_p.P87S|EPHA6_uc003drt.3_Missense_Mutation_p.P87S|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	600	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGCGCTTCCCGGGAATTAA	0.373000														42			19		0	0	0.00152264	0	0
DSG1	1828	broad.mit.edu	37	18	28935265	28935265	+	Nonsense_Mutation	SNP	C	T	T	rs144199555		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:28935265C>T	uc002kwp.3	+	14	3318	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	DSG1_uc010xbp.2_Nonsense_Mutation_p.R395*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	1036					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGCACAGCTCGAAGTCGAAT	0.498000														34			16		0	0	0.00152264	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415018	88415018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:88415018C>T	uc010ikm.3	-	4	1506	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	SPARCL1_uc011cdc.2_Missense_Mutation_p.E187K|SPARCL1_uc003hqs.4_Missense_Mutation_p.E312K|SPARCL1_uc011cdd.2_Missense_Mutation_p.E187K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	312					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GTCTTTTCTTCTGTCTCTTTG	0.443000														104			88		0	0	0.000781405	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595977	140595977	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140595977C>T	uc003lja.1	+	0	2469	c.2282C>T	c.(2281-2283)aCc>aTc	p.T761I		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	761					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCAGGGACCAATGAGTTC	0.552000														34			13		0	0	0.000151284	0	0
C10orf113	387638	broad.mit.edu	37	10	21414799	21414799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:21414799C>T	uc001iqm.3	-	1	472	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	141										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTGAACTTTTCTTTTATGCCC	0.393000														77			58		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13777321	13777321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:13777321G>A	uc003jfd.2	-	53	9137	c.9095C>T	c.(9094-9096)tCa>tTa	p.S3032L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3032	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCACCTGATGATAAAACATT	0.358000									Kartagener syndrome					28			22		0	0	0.000229342	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215449	118215449	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:118215449T>A	uc004era.4	-	13	4973	c.4973A>T	c.(4972-4974)aAg>aTg	p.K1658M		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1658										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGCAGTATCTTCTGAGCTTC	0.443000														7			43		0	0	0.000781405	0	0
KRT9	3857	broad.mit.edu	37	17	39726434	39726434	+	Silent	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:39726434C>A	uc002hxe.4	-	1	747	c.681G>T	c.(679-681)ctG>ctT	p.L227L	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	227	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTCAATGTCCAGGAGAGTTT	0.498000														300			10		0.000978159	0.00728314	0.000978159	1	0
MACROD2	140733	broad.mit.edu	37	20	15412056	15412056	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:15412056C>T	uc002wou.3	+	6	811	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	MACROD2_uc002wot.3_Missense_Mutation_p.P183S|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	183	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAGGCATTTCCCTGCATCTC	0.308000														86			59		0	0	0.000781405	0	0
WDR72	256764	broad.mit.edu	37	15	53908161	53908161	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:53908161C>T	uc002acj.2	-	14	2284	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	WDR72_uc010bfi.1_Missense_Mutation_p.E748K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	748										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCCAGGCTTTCAGTAATAGGC	0.423000														34			27		0	0	0.000720815	0	0
SLC27A6	28965	broad.mit.edu	37	5	128326113	128326113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:128326113C>T	uc003kuy.3	+	4	1321	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	SLC27A6_uc003kuz.3_Nonsense_Mutation_p.Q309*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	309					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACTGTGTTTCAGTATATTGG	0.348000														34			17		0	0	0.000566183	0	0
GPR116	221395	broad.mit.edu	37	6	46849309	46849309	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:46849309C>T	uc003oyo.3	-	7	986	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GPR116_uc003oyp.3_Missense_Mutation_p.E233K|GPR116_uc003oyq.3_Missense_Mutation_p.E233K|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Missense_Mutation_p.E233K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	233	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCTTGACTTCATATGTCACA	0.398000														83			17		0	0	0.00074312	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308796	205308797	+	Nonsense_Mutation	DNP	GG	AA	AA	rs149498417		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:205308796_205308797GG>AA	uc001hcf.1	-	2	1084_1085	c.516_517CC>TT	c.(514-519)ctccga>ctTTga	p.R173*	KLHDC8A_uc010prg.1_Nonsense_Mutation_p.R60*|KLHDC8A_uc001hcg.1_Nonsense_Mutation_p.R173*	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	173										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGAGCCTCGGAGGAAGGAGG	0.550000														53			27		0	0	6.4e-05	0	0
AASDH	132949	broad.mit.edu	37	4	57209798	57209798	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:57209798G>A	uc003hbn.3	-	12	2858	c.2705C>T	c.(2704-2706)cCg>cTg	p.P902L	AASDH_uc010ihb.3_Missense_Mutation_p.P417L|AASDH_uc003hbo.3_Missense_Mutation_p.P802L|AASDH_uc011caa.2_Silent_p.S694S|AASDH_uc011cab.2_Missense_Mutation_p.P417L|AASDH_uc010ihc.3_Intron	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	902					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCAAACACGGAGAGGAAAA	0.333000														23			14		0	0	0.000219431	0	0
SPINK5	11005	broad.mit.edu	37	5	147498037	147498037	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:147498037G>A	uc003lox.2	+	22	2223	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	SPINK5_uc010jgs.1_Missense_Mutation_p.G689E|SPINK5_uc010jgr.2_Missense_Mutation_p.G698E|SPINK5_uc003low.2_Missense_Mutation_p.G717E|SPINK5_uc003loy.2_Missense_Mutation_p.G717E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	717	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAAAATGGAAGACTCAGC	0.403000														25			24		0	0	0.000295444	0	0
NLRP4	147945	broad.mit.edu	37	19	56369766	56369766	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:56369766C>T	uc002qmd.4	+	2	1429	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	NLRP4_uc002qmf.3_Missense_Mutation_p.S261F|NLRP4_uc010etf.3_Missense_Mutation_p.S167F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	336	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAGCTGTTTTCCATATGCCAA	0.473000														44			27		0	0	0.000409698	0	0
ANXA6	309	broad.mit.edu	37	5	150518926	150518926	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:150518926G>A	uc003ltl.2	-	3	420	c.192C>T	c.(190-192)tcC>tcT	p.S64S	ANXA6_uc011dcp.2_Silent_p.S32S|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	64						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R63Q(1)|p.S64S(1)|p.S116S(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGTAGAGGGACTTGTAGC	0.547000														21			5		0	0	0.00116845	0	0
NLRP3	114548	broad.mit.edu	37	1	247587438	247587438	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:247587438G>A	uc001icr.3	+	4	831	c.693G>A	c.(691-693)ggG>ggA	p.G231G	NLRP3_uc001ics.3_Silent_p.G231G|NLRP3_uc001icu.3_Silent_p.G231G|NLRP3_uc001icw.3_Silent_p.G231G|NLRP3_uc001icv.3_Silent_p.G231G|NLRP3_uc010pyw.2_Silent_p.G229G|NLRP3_uc001ict.1_Silent_p.G229G	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	231	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G231R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGGATTGGGAAAACAATCC	0.542000														64			14		0	0	0.000422831	0	0
ASXL3	80816	broad.mit.edu	37	18	31318469	31318469	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31318469G>A	uc010dmg.1	+	10	1156	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	ASXL3_uc002kxq.2_Silent_p.E74E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTCAAGAGAGGAATCTGTGA	0.433000														17			8		0	0	0.000274275	0	0
NRXN1	9378	broad.mit.edu	37	2	50724509	50724509	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:50724509C>T	uc021vhh.1	-	12	3762	c.2841G>A	c.(2839-2841)ggG>ggA	p.G947G	NRXN1_uc002rxb.4_Silent_p.G619G|NRXN1_uc021vhg.1_Silent_p.G987G|NRXN1_uc021vhi.1_Silent_p.G983G|NRXN1_uc021vhj.1_Silent_p.G943G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	947	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATTTCCATCCCCACTGTTAT	0.363000														46			26		0	0	0.00127121	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089509	115089509	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:115089509C>T	uc001vuv.3	+	2	524	c.192C>T	c.(190-192)tgC>tgT	p.C64C	CHAMP1_uc010tko.2_Silent_p.C64C|CHAMP1_uc010ahb.3_Silent_p.C64C|CHAMP1_uc021rmx.1_Silent_p.C64C	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	64					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TATTTCACTGCCATAAATGCT	0.378000														25			12		0	0	0.00136819	0	0
CNTN4	152330	broad.mit.edu	37	3	3067938	3067938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:3067938G>A	uc003bpc.3	+	14	1978	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	CNTN4_uc003bpb.1_Missense_Mutation_p.D219N|CNTN4_uc021wsg.1_Missense_Mutation_p.D547N|CNTN4_uc003bpd.1_Missense_Mutation_p.D547N|CNTN4_uc003bpe.3_Missense_Mutation_p.D219N|CNTN4_uc003bpf.3_Missense_Mutation_p.D219N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	547	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.H546Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGAGATGGGGACCACTTTGA	0.368000														29			19		0	0	0.000229342	0	0
DBF4B	80174	broad.mit.edu	37	17	42824500	42824500	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:42824500C>T	uc002ihf.3	+	10	1093	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	DBF4B_uc002ihe.3_Missense_Mutation_p.P108S|DBF4B_uc010wjc.2_Missense_Mutation_p.P294S	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	294					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACACCATGCCCAGGAGGAA	0.607000														51			22		0	0	0.001512	0	0
MSX2P1	55545	broad.mit.edu	37	17	56234965	56234965	+	RNA	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:56234965G>A	uc002ivn.3	+	0		c.646G>A								Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA.																		AAGACTGCAGGAGTCAGAACT	0.542000														19			6		0	0	0.00116845	0	0
TOX	9760	broad.mit.edu	37	8	59852006	59852006	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:59852006A>G	uc003xtw.1	-	2	487	c.266T>C	c.(265-267)gTt>gCt	p.V89A		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	89						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				ACCAGACTCAACTTCATTCAG	0.493000														130			13		0	0	0.000219431	0	0
OR52E4	390081	broad.mit.edu	37	11	5906378	5906378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5906378C>T	uc010qzs.2	+	0	856	c.856C>T	c.(856-858)Cct>Tct	p.P286S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGTCCCACCTGCCCTTAA	0.378000														52			29		0	0	0.000339439	0	0
GJA8	2703	broad.mit.edu	37	1	147380566	147380566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:147380566G>A	uc021ovm.1	+	0	484	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GJA8_uc001epu.2_Missense_Mutation_p.E162K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	162					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587000														60			112		0	0	0.000781405	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327841	42327841	+	Silent	SNP	C	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:42327841C>G	uc002igf.4	-	19	2870	c.2721G>C	c.(2719-2721)gtG>gtC	p.V907V	SLC4A1_uc021tyc.1_Silent_p.V541V	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	907	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGCATGGCCACTTCGTCGT	0.587000														32			6		0	0	0.000157383	0	0
CCDC147	159686	broad.mit.edu	37	10	106152021	106152021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:106152021C>T	uc001kyh.3	+	9	1530	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	466										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CATAAAAGTTCGTGAAACACA	0.358000														97			55		0	0	0.000781405	0	0
MED12L	116931	broad.mit.edu	37	3	151102860	151102860	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:151102860C>T	uc003eyp.3	+	33	4993	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*	MED12L_uc011bnz.2_Nonsense_Mutation_p.R1482*|P2RY12_uc011boa.2_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Nonsense_Mutation_p.R785*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1622					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R1622*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACAAAGTTCGACAGTTACT	0.398000														119			54		0	0	0.000781405	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378854	101378854	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:101378854G>A	uc003dve.4	-	5	2049	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F606L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCACTGTACTGAAACTGTTTT	0.358000														63			31		0	0	0.000692331	0	0
CHAT	1103	broad.mit.edu	37	10	50827835	50827835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:50827835G>A	uc001jhz.2	+	2	605	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CHAT_uc001jhv.1_Missense_Mutation_p.R33Q|CHAT_uc001jhx.1_Missense_Mutation_p.R33Q|CHAT_uc001jhy.1_Missense_Mutation_p.R33Q|CHAT_uc001jia.2_Missense_Mutation_p.R69Q|CHAT_uc010qgs.1_Missense_Mutation_p.R33Q	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	151				R -> Q (in Ref. 7; CAA39923).	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGTGCATGCGACACTTGGTG	0.617000														22			16		0	0	0.000422831	0	0
FYCO1	79443	broad.mit.edu	37	3	46009380	46009380	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:46009380G>A	uc011bal.1	-	6	1558	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	FYCO1_uc003cpb.4_Silent_p.S482S	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	482					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCCTCCCAGGAGCTCGTGT	0.622000														45			38		0	0	0.00128727	0	0
WNT8A	7478	broad.mit.edu	37	5	137424723	137424723	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:137424723C>T	uc011cyk.1	+	3	765	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	WNT8A_uc011cyj.1_Silent_p.L177L|WNT8A_uc003lcd.1_Silent_p.L159L			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	159					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCAGAGCCCTGATGAATCT	0.522000														75			59		0	0	0.000781405	0	0
CREBBP	1387	broad.mit.edu	37	16	3827650	3827650	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:3827650G>A	uc002cvv.3	-	10	2326	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	CREBBP_uc002cvw.3_Silent_p.L670L	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	708					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		GGCAGGGACAGGGGTCCATCT	0.358000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							48			49		0	0	0.000781405	0	0
MMP9	4318	broad.mit.edu	37	20	44641983	44641983	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:44641983A>C	uc002xqz.3	+	8	1439	c.1420A>C	c.(1420-1422)Act>Cct	p.T474P		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	474					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGACCCCCCACTGTCCACCC	0.692000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			14		0	0	0.000422831	0	0
NOL8	55035	broad.mit.edu	37	9	95077832	95077832	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:95077832G>A	uc022bjx.1	-	6	1412	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.R291C	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	359					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CAAGAGACACGATTTTTGATA	0.333000														26			13		0	0	0.000308642	0	0
OR52L1	338751	broad.mit.edu	37	11	6007627	6007627	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6007627G>A	uc001mcd.2	-	0	589	c.534C>T	c.(532-534)ccC>ccT	p.P178P		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACAAAATGGGGAAGGGGA	0.502000														43			19		0	0	0.00121646	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18814463	18814463	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:18814463A>T	uc002gup.2	+	8	954	c.632A>T	c.(631-633)cAt>cTt	p.H211L	PRPSAP2_uc002guo.2_Missense_Mutation_p.H125L|PRPSAP2_uc010vyi.2_Missense_Mutation_p.H171L|PRPSAP2_uc010vyj.2_Missense_Mutation_p.H125L|PRPSAP2_uc010vyk.2_Missense_Mutation_p.H211L	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	211					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GCAGTGATTCATGGAGAGGCG	0.587000														36			21		0	0	0.00047179	0	0
CCR2	729230	broad.mit.edu	37	3	46399292	46399292	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:46399292C>A	uc003cpn.4	+	1	759	c.274C>A	c.(274-276)Ctt>Att	p.L92I	CCR2_uc003cpm.4_Missense_Mutation_p.L92I|CCR2_uc021wxa.1_Missense_Mutation_p.L92I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	92					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCTGCTTTTTCTTATTACTCT	0.443000														151			74		6.47592e-44	4.93045e-43	0.000781405	1	0
MAST1	22983	broad.mit.edu	37	19	12976868	12976868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:12976868G>A	uc002mvm.3	+	16	2109	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	661	AGC-kinase C-terminal.				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						GCAGAAGGCCGAGTTCATCCC	0.592000														17			14		0	0	0.000422831	0	0
TF	7018	broad.mit.edu	37	3	133478161	133478161	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:133478161C>T	uc003epu.2	+	13	2919	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TF_uc011blt.2_Silent_p.I270I|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.I397I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	397	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.I397I(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547000														38			25		0	0	0.00047179	0	0
IRAK3	11213	broad.mit.edu	37	12	66605284	66605284	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:66605284C>T	uc001sth.3	+	4	597	c.495C>T	c.(493-495)ttC>ttT	p.F165F	IRAK3_uc010ssy.2_Silent_p.F104F	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	165	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|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 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 NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|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)		CTAGAAATTTCCACAAAGACT	0.353000														29			19		0	0	0.000958276	0	0
PDE8B	8622	broad.mit.edu	37	5	76621535	76621535	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:76621535G>A	uc003kfa.3	+	2	616	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PDE8B_uc003kfd.3_Missense_Mutation_p.D191N|PDE8B_uc003kfe.3_Missense_Mutation_p.D191N|PDE8B_uc003kfb.3_Missense_Mutation_p.D171N|PDE8B_uc003kfc.3_Missense_Mutation_p.D191N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	191					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCAGAACTTCGATGCAGAAGC	0.333000														144			86		0	0	0.000781405	0	0
C5orf42	65250	broad.mit.edu	37	5	37108561	37108561	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:37108561G>A	uc011cpa.1	-	50	9482	c.9251C>T	c.(9250-9252)cCg>cTg	p.P3084L	C5orf42_uc003jko.1_Missense_Mutation_p.P115L|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1602L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P2177L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3084								p.P3084Q(1)|p.P1982Q(1)|p.P3084L(1)|p.P1982L(1)		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)			ACTATGACACGGAGCATTAGA	0.403000														48			30		0	0	0.000409698	0	0
TRHDE	29953	broad.mit.edu	37	12	72969300	72969300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:72969300G>A	uc001sxa.3	+	11	2194	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	722					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						GGGCTTGATCGATGATGCCTT	0.388000														50			27		0	0	0.00178596	0	0
PLCE1	51196	broad.mit.edu	37	10	96043626	96043626	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96043626G>A	uc001kjk.3	+	20	5509	c.4875G>A	c.(4873-4875)aaG>aaA	p.K1625K	PLCE1_uc010qnx.2_Silent_p.K1609K|PLCE1_uc001kjm.3_Silent_p.K1317K|PLCE1_uc001kjp.3_5'Flank|LOC100128054_uc001kjo.2_Intron	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1625					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAATCCCAAAGAGGATAAAGA	0.368000														24			18		0	0	0.00121646	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440321	49440321	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49440321C>T	uc001jgi.3	-	9	1336	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	FRMPD2_uc001jgh.3_Silent_p.G304G|FRMPD2_uc001jgj.3_Silent_p.G304G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	335					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G335V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AATAGGATTTCCCTTTTTTGG	0.423000														17			16		0	0	0.000566183	0	0
OR5V1	81696	broad.mit.edu	37	6	29323323	29323323	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29323323G>A	uc011dlo.2	-	0	732	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217S(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAAATGTAGGAAAGTACGAT	0.468000														94			27		0	0	0.001512	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919847	12919847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:12919847G>A	uc001aum.1	+	2	674	c.587G>A	c.(586-588)aGa>aAa	p.R196K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	196										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)		AAATATCTCAGAAAGTCATTG	0.388000														137			93		0	0	0.000781405	0	0
GNE	10020	broad.mit.edu	37	9	36222930	36222930	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:36222930G>T	uc010mlh.3	-	8	1698	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K	GNE_uc010mlg.3_Intron|GNE_uc011lpl.2_Missense_Mutation_p.Q383K|GNE_uc010mli.3_Missense_Mutation_p.Q524K|GNE_uc010mlj.3_Missense_Mutation_p.Q488K	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	493	N-acetylmannosamine kinase.				N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTCCACTCTTGGATCAGTTTG	0.517000														110			7		2.17888e-05	0.000163621	0.000442599	1	0
HAO2	51179	broad.mit.edu	37	1	119936435	119936435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:119936435G>A	uc001ehr.1	+	7	1160	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	HAO2_uc001ehq.1_Missense_Mutation_p.R343Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	343	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GAGATCAATCGAAACTTGGTC	0.478000														69			47		0	0	0.000781405	0	0
MYH14	79784	broad.mit.edu	37	19	50784919	50784919	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:50784919C>T	uc010enu.1	+	32	4406	c.4359C>T	c.(4357-4359)cgC>cgT	p.R1453R	MYH14_uc002prq.1_Silent_p.R1420R|MYH14_uc002prr.1_Silent_p.R1412R|MYH14_uc010ycb.2_Intron	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1412					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCACGGCGCCGGGCAGCCC	0.731000														11			7		0	0	8.12818e-05	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														47			22		0	0	0.000229342	0	0
FMOD	2331	broad.mit.edu	37	1	203316738	203316738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:203316738C>T	uc001gzr.3	-	1	797	c.661G>A	c.(661-663)Ggc>Agc	p.G221S		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	221					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GACCGGAGGCCCCTCATGGAA	0.567000														57			99		0	0	0.000781405	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9931303	9931303	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:9931303G>A	uc001aqk.1	-	4	436	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_uc001aql.1_Silent_p.T43T	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	Homo sapiens catenin, beta interacting protein 1 (CTNNBIP1), transcript variant 1, mRNA.	43					Wnt receptor signaling pathway|anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of Wnt receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647000														7			7		0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476827	110476827	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:110476827A>G	uc003yne.3	+	48	7870	c.7766A>G	c.(7765-7767)aAc>aGc	p.N2589S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2589					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)			TACCGGATGAACAACCACCCT	0.463000										HNSCC(38;0.096)				12			47		0	0	0.000781405	0	0
HERC1	8925	broad.mit.edu	37	15	64019986	64019986	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:64019986G>A	uc002amp.3	-	16	3354	c.3206C>T	c.(3205-3207)tCc>tTc	p.S1069F	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1069					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAACAGCAGGGAGTTAACAAT	0.463000														45			29		0	0	0.00128727	0	0
ZNF410	57862	broad.mit.edu	37	14	74360502	74360502	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:74360502C>T	uc010arz.2	+	2	486	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Silent_p.L12L|ZNF410_uc001xpb.2_Silent_p.L12L|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Silent_p.L12L	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCCCCCAGCTCCTGGTACAGT	0.408000														37			31		0	0	0.00178596	0	0
SLIT3	6586	broad.mit.edu	37	5	168179971	168179971	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:168179971G>A	uc010jjg.3	-	17	2382	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	SLIT3_uc003mab.3_Silent_p.S654S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	654					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGACAGGGAGACAAGCG	0.597000														8			16		0	0	0.000422831	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72008476	72008476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:72008476G>A	uc001swo.2	-	29	5724	c.5365C>T	c.(5365-5367)Ctt>Ttt	p.L1789F		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1789					RNA processing	intracellular	metal ion binding	p.Y1788C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAAAGACAAGATAACTGCCA	0.353000														72			39		0	0	0.000374591	0	0
SAP30	8819	broad.mit.edu	37	4	174294556	174294556	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:174294556A>T	uc003itd.3	+	1	572	c.331A>T	c.(331-333)Ata>Tta	p.I111L		NM_003864	NP_003855	O75446	SAP30_HUMAN	Homo sapiens Sin3A-associated protein, 30kDa (SAP30), mRNA.	111	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCATCTTTACATATGTGATTA	0.338000														31			13		0	0	0.000151284	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794081	21794081	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:21794081C>T	uc001wag.3	+	15	2459	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L	RPGRIP1_uc001wah.3_Missense_Mutation_p.P462L|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.P295L|RPGRIP1_uc010aim.3_Missense_Mutation_p.P203L|RPGRIP1_uc001wal.3_Missense_Mutation_p.P179L|RPGRIP1_uc001wam.3_Missense_Mutation_p.P137L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	820	C2.				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)		GGAACTCAACCCAGTCCATAT	0.512000														19			10		0	0	0.000442599	0	0
MYL6	4637	broad.mit.edu	37	12	56552317	56552317	+	Silent	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:56552317T>C	uc010sqd.2	+	0	172	c.132T>C	c.(130-132)ggT>ggC	p.G44G	MYL6_uc001sjw.2_Intron|MYL6_uc001sjx.2_Intron|MYL6_uc010sqe.2_Intron	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAGGTGGGGTTGGAAAGACT	0.597000														8			12		0	0	0.000978159	0	0
OPRK1	4986	broad.mit.edu	37	8	54147561	54147561	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:54147561G>A	uc003xrh.1	-	1	743	c.368C>T	c.(367-369)tCc>tTc	p.S123F	OPRK1_uc022aup.1_Missense_Mutation_p.S3F|OPRK1_uc003xri.1_Missense_Mutation_p.S123F|OPRK1_uc010lyc.1_Missense_Mutation_p.S34F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	123					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAAAGGCCAGGAATTCATCAA	0.433000														112			34		0	0	0.000692331	0	0
MET	4233	broad.mit.edu	37	7	116380017	116380017	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:116380017G>A	uc003vij.3	+	3	1593	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_uc022akk.1_Missense_Mutation_p.R469Q|MET_uc010lkh.3_Missense_Mutation_p.R469Q|MET_uc011knc.1_Missense_Mutation_p.R469Q|MET_uc011knd.2_Missense_Mutation_p.R469Q|MET_uc011knf.2_Missense_Mutation_p.R469Q|MET_uc011kne.2_Missense_Mutation_p.R469Q|MET_uc011kng.1_Missense_Mutation_p.R469Q|MET_uc011knh.1_Missense_Mutation_p.R469Q|MET_uc011kni.2_Missense_Mutation_p.R469Q|MET_uc011knj.2_Missense_Mutation_p.R39Q|MET_uc011kna.1_Missense_Mutation_p.R469Q|MET_uc011knb.1_Missense_Mutation_p.R469Q	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	469	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					94			53		0	0	0.000781405	0	0
XDH	7498	broad.mit.edu	37	2	31595155	31595155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:31595155G>A	uc002rnv.1	-	16	1874	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	599					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R599P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTCGTAGCGAGGAATGTCG	0.637000														83			52		0	0	0.000781405	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389819	150389819	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:150389819G>A	uc003who.3	+	2	533	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	149						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCCACAAGGAAGACCTCAA	0.537000														21			14		0	0	0.000308642	0	0
COL24A1	255631	broad.mit.edu	37	1	86210432	86210432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:86210432C>T	uc001dlj.3	-	56	4664	c.4589G>A	c.(4588-4590)aGc>aAc	p.S1530N	COL24A1_uc001dli.3_Missense_Mutation_p.S645N|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.S830N|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1530	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTCTTGATGCTGTGCAATAA	0.393000														40			25		0	0	0.000586117	0	0
RBBP6	5930	broad.mit.edu	37	16	24578597	24578597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:24578597C>T	uc002dmh.3	+	14	2763	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RBBP6_uc010vcb.1_Missense_Mutation_p.P442S|RBBP6_uc002dmi.3_Missense_Mutation_p.P575S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P442S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		acttcctctccctccgggtgt	0.577000														84			34		0	0	0.000692331	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629672	79629673	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:79629672_79629673CC>AA	uc003ybd.3	+	8	1024_1025	c.922_923CC>AA	c.(922-924)cct>AAt	p.P308N		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	308																	GACTAAATACCCTGTAGAATGG	0.371000														610			19		0	0	6.4e-05	0	0
KIAA1598	57698	broad.mit.edu	37	10	118671344	118671344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:118671344G>A	uc021pzk.1	-	13	1814	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	KIAA1598_uc009xyw.3_Missense_Mutation_p.S439L|KIAA1598_uc001lcz.4_Missense_Mutation_p.S439L|KIAA1598_uc010qso.2_Missense_Mutation_p.S379L|KIAA1598_uc010qsp.1_Missense_Mutation_p.S439L|KIAA1598_uc010qsq.1_Missense_Mutation_p.S379L|KIAA1598_uc001lcy.4_Missense_Mutation_p.S409L	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	439					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGCCTTTCGAAGATTCTGG	0.308000														90			44		0	0	0.000781405	0	0
GAP43	2596	broad.mit.edu	37	3	115395218	115395218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:115395218C>T	uc003ebr.2	+	2	1171	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GAP43_uc003ebq.2_Missense_Mutation_p.S130F	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	130					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTCCTGCATCCTCAGAGGAG	0.597000														18			13		0	0	0.000219431	0	0
WDR67	93594	broad.mit.edu	37	8	124138427	124138427	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:124138427C>A	uc003ypp.2	+	11	1792	c.1702C>A	c.(1702-1704)Cag>Aag	p.Q568K	WDR67_uc011lig.2_Missense_Mutation_p.Q568K|WDR67_uc011lih.2_Missense_Mutation_p.Q458K|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.Q281K|WDR67_uc003ypu.2_Missense_Mutation_p.Q25K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	568	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TATAACCTCCCAGGTAAGAAG	0.333000														159			8		0.000442599	0.00330108	0.000442599	1	0
PRKAR2B	5577	broad.mit.edu	37	7	106786820	106786820	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:106786820G>A	uc003vdx.3	+	5	830	c.655G>A	c.(655-657)Ggg>Agg	p.G219R		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	219					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGATAATCGTGGGAGTTTCGG	0.423000														45			20		0	0	0.000229342	0	0
FHDC1	85462	broad.mit.edu	37	4	153897163	153897163	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:153897163C>T	uc003inf.2	+	10	2795	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	907					actin cytoskeleton organization		actin binding	p.P907S(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGGTCATGCCCATCACCAAG	0.677000														13			7		0	0	0.000157383	0	0
SYTL1	84958	broad.mit.edu	37	1	27676173	27676173	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:27676173G>A	uc001bnw.2	+	7	861	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SYTL1_uc001bnv.2_Missense_Mutation_p.G210R|SYTL1_uc001bnx.2_Missense_Mutation_p.G273R|SYTL1_uc009vsv.2_Missense_Mutation_p.G222R	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	222					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAGAATGGGGAGGAGGC	0.711000														5			4		0	0	0.000602214	0	0
LRFN2	57497	broad.mit.edu	37	6	40400120	40400120	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:40400120G>A	uc003oph.1	-	1	1198	c.733C>T	c.(733-735)Cac>Tac	p.H245Y		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	245	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAATTGCAGTGAAGTGGGTTA	0.607000														52			16		0	0	0.000422831	0	0
PAH	5053	broad.mit.edu	37	12	103245521	103245521	+	Missense_Mutation	SNP	C	T	T	rs62508739		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:103245521C>T	uc001tjq.1	-	7	1329	c.856G>A	c.(856-858)Gag>Aag	p.E286K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	286					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCCAACAGCTCATGGCAGATG	0.483000														33			12		0	0	0.000151284	0	0
HBG1	3047	broad.mit.edu	37	11	5275676	5275676	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5275676G>A	uc001mai.1	-	1	598	c.161C>T	c.(160-162)gCc>gTc	p.A54V	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.A54V	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	54			A -> D (in Beech island; dbSNP:rs35746147).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCATGATGGCAGAGGCAGA	0.522000														90			11		0	0	0.000953801	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255090	140255090	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140255090C>T	uc003lic.2	+	0	160	c.33C>T	c.(31-33)tcC>tcT	p.S11S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.S11S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGGGATCCCAGCGTCTGC	0.567000														18			9		0	0	0.000673444	0	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:235600750C>T	uc010pxr.1	+	12	1353	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.I359I|TBCE_uc001hxa.1_Silent_p.I359I|TBCE_uc001hxb.1_Silent_p.I246I	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000														77			18		0	0	0.000958276	0	0
PRSS38	339501	broad.mit.edu	37	1	228033739	228033739	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:228033739A>G	uc001hrh.3	+	4	811	c.811A>G	c.(811-813)Aac>Gac	p.N271D		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	271	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCTGCTCCAACCCTCTGTA	0.542000														16			41		0	0	0.00170553	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618670	77618670	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:77618670C>T	uc003yau.2	+	1	2734	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.R783*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.R783*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	783						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGAACCTCCGAATTCATAT	0.512000										HNSCC(33;0.089)				51			30		0	0	0.000339439	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543940	141543940	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:141543940G>A	uc010ioj.3	-	20	3482	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1070						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGGGCCACGAACAACTTGC	0.642000														11			5		0	0	0.000602214	0	0
STAT4	6775	broad.mit.edu	37	2	191927508	191927508	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:191927508C>T	uc002usm.2	-	8	1236	c.921G>A	c.(919-921)ttG>ttA	p.L307L	STAT4_uc002usn.2_Silent_p.L307L|STAT4_uc010zgk.1_Silent_p.L152L|STAT4_uc002uso.2_Silent_p.L307L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	307					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGTTGTAGATCAAGAAGGTGA	0.408000														29			16		0	0	0.000308642	0	0
ALG2	85365	broad.mit.edu	37	9	101980476	101980476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:101980476G>A	uc004azf.3	-	1	1061	c.991C>T	c.(991-993)Cct>Tct	p.P331S	ALG2_uc004azg.3_Missense_Mutation_p.P238S	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	331					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GCTTCCAGAGGGACAATGCCA	0.507000														22			14		0	0	0.000566183	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146299	5146299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:5146299G>A	uc003jdl.3	+	2	370	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E78K|ADAMTS16_uc003jdj.1_Missense_Mutation_p.E78K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGTGTCCCATGAAATCATGCA	0.532000														25			23		0	0	0.00127121	0	0
TCRB	0	broad.mit.edu	37	7	142120283	142120283	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:142120283G>A	uc022anf.1	-	0	68	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Silent_p.F13F					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCCCTAGGAAACCCAGGA	0.498000														77			42		0	0	0.000781405	0	0
RRN3	54700	broad.mit.edu	37	16	15180278	15180278	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:15180278G>A	uc002dde.3	-	3	354	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_5'UTR|RRN3_uc010uzq.2_Intron|RRN3_uc002ddf.1_Missense_Mutation_p.R96C	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATAGAAGAACGGAATTCTAGC	0.313000														169			61		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9062601G>A	uc002mkp.3	-	2	25049	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8284	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGTAGAGGAAACAGGAGA	0.512000														20			24		0	0	0.00047179	0	0
GSTM5	2949	broad.mit.edu	37	1	110255773	110255773	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:110255773G>A	uc001dyn.3	+	2	216	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	49	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGGCTGAATGAAAAATTCAA	0.572000														38			19		0	0	0.000295444	0	0
ABCC10	89845	broad.mit.edu	37	6	43413002	43413002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:43413002C>T	uc003ouy.1	+	13	3195	c.2980C>T	c.(2980-2982)Ctt>Ttt	p.L994F	ABCC10_uc003ouz.1_Missense_Mutation_p.L966F|ABCC10_uc010jyo.1_Missense_Mutation_p.L100F	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	994	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCAGGCACCCTTCAAGCAGC	0.602000														33			12		0	0	0.000978159	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728911	3728911	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:3728911G>A	uc002wjd.3	+	7	865	c.723G>A	c.(721-723)ctG>ctA	p.L241L	HSPA12B_uc010zqj.2_Silent_p.L75L|HSPA12B_uc010zqi.2_Silent_p.L240L|HSPA12B_uc002wje.3_Silent_p.L154L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	241							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCATCGCCCTGGAGCCCGAGG	0.677000														36			16		0	0	0.000958276	0	0
TOMM40	10452	broad.mit.edu	37	19	45406291	45406291	+	Silent	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:45406291T>C	uc002paa.4	+	8	1147	c.951T>C	c.(949-951)tcT>tcC	p.S317S	TOMM40_uc002ozz.3_3'UTR|TOMM40_uc002ozx.4_Silent_p.S317S|TOMM40_uc002ozy.4_Silent_p.S317S|APOE_uc002pab.3_5'Flank	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CTGCAGGCTCTGTGGATAGCA	0.602000														45			23		0	0	0.000586117	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795152	142795152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:142795152C>T	uc004fbz.3	-	1	1280	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	176										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCACCCTCCTGTGAAGAT	0.468000														25			81		0	0	0.000781405	0	0
FCGBP	8857	broad.mit.edu	37	19	40368495	40368495	+	Missense_Mutation	SNP	A	G	G	rs145372678	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:40368495A>G	uc002omp.4	-	27	12861	c.12853T>C	c.(12853-12855)Tct>Cct	p.S4285P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4285	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTGTGCCAGATGAAAGGGGT	0.637000														52			10		0	0	0.000422831	0	0
ZNF500	26048	broad.mit.edu	37	16	4802948	4802949	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:4802948_4802949GG>AA	uc002cxp.1	-	5	1118_1119	c.871_872CC>TT	c.(871-873)cca>TTa	p.P291L	ZNF500_uc002cxo.1_Missense_Mutation_p.P83L|ZNF500_uc010uxt.1_Missense_Mutation_p.P291L	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCTCTGACCTGGGAGCGGGTGG	0.678000														23			30		0	0	6.4e-05	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923482	9923482	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:9923482C>T	uc010uym.2	-	9	2115	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	GRIN2A_uc002czo.4_Missense_Mutation_p.G602E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G445E|GRIN2A_uc002czr.4_Missense_Mutation_p.G602E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	602					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TATAGCTTTTCCAATTGTAAA	0.463000														68			24		0	0	0.000878237	0	0
ME1	4199	broad.mit.edu	37	6	84108148	84108148	+	Silent	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:84108148A>T	uc003pjy.3	-	2	565	c.300T>A	c.(298-300)atT>atA	p.I100I	ME1_uc011dzb.2_Silent_p.I25I|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	100					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GAGTATAAACAATAGGCATGA	0.358000														34			19		0	0	0.00121646	0	0
LRP1B	53353	broad.mit.edu	37	2	141625375	141625375	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:141625375C>T	uc002tvj.1	-	26	5335	c.4363G>A	c.(4363-4365)Gat>Aat	p.D1455N	LRP1B_uc010fnl.1_Missense_Mutation_p.D637N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1455					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)		TTTGTTCCATCATAGAGGGCT	0.393000										TSP Lung(27;0.18)				39			27		0	0	0.00127121	0	0
ADAM29	11086	broad.mit.edu	37	4	175897258	175897258	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:175897258G>A	uc003iuc.3	+	4	1252	c.582G>A	c.(580-582)tgG>tgA	p.W194*	ADAM29_uc003iud.3_Nonsense_Mutation_p.W194*|ADAM29_uc010irr.3_Nonsense_Mutation_p.W194*|ADAM29_uc011cki.2_Nonsense_Mutation_p.W194*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.W194*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	194					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGGCTGGTGGATCCATTTTA	0.358000														45			28		0	0	0.000720815	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073287	17073287	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:17073287C>T	uc002zlp.1	-	0	414	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	52					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGTGGGGGCCATAGCAAGGC	0.647000														32			14		0	0	0.00074312	0	0
SPAG17	200162	broad.mit.edu	37	1	118583359	118583359	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:118583359C>T	uc001ehk.2	-	21	3228	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1054						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTACCTTTTTCAAACATTGTC	0.403000														24			20		0	0	0.00121646	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566427	127566427	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:127566427G>A	uc004bov.3	+	5	1087	c.974G>A	c.(973-975)gGc>gAc	p.G325D	OLFML2A_uc010mwr.1_Missense_Mutation_p.G289D|OLFML2A_uc004bow.3_Missense_Mutation_p.G111D	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	325										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAGGTGGAGGGCAGGTCCAAC	0.627000														23			20		0	0	0.00047179	0	0
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:111899614C>T	uc001pmo.3	+	3	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Missense_Mutation_p.S146L	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCACTGCTTCGCCACCTACA	0.532000														56			40		0	0	0.000437636	0	0
CCDC57	284001	broad.mit.edu	37	17	80153206	80153206	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:80153206T>C	uc002kdx.1	-	3	588	c.551A>G	c.(550-552)aAg>aGg	p.K184R	CCDC57_uc002kdz.1_Missense_Mutation_p.K184R	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTGCTCCCTCTTCCGCATTTT	0.532000														3			8		0	0	0.000673444	0	0
PLAC4	191585	broad.mit.edu	37	21	42551467	42551468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:42551467_42551468GG>AA	uc002yyz.3	-	0	5699_5700	c.88_89CC>TT	c.(88-90)ccc>TTc	p.P30F	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	30													Prostate(19;2.29e-06)				GAGGAGTGAGGGTGTCAGGGTG	0.569000														22			5		0	0	6.4e-05	0	0
IGSF22	283284	broad.mit.edu	37	11	18730998	18730998	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18730998C>T	uc009yht.2	-	17	3124	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	877										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGCCTCATTCACAGCCCGGA	0.582000														36			16		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9070578	9070578	+	Missense_Mutation	SNP	G	A	A	rs141378906	by1000genomes	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9070578G>A	uc002mkp.3	-	2	17072	c.16868C>T	c.(16867-16869)cCc>cTc	p.P5623L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5625	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5623R(3)|p.P1256R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGGGGGAGTTGTCAT	0.537000														9			8		0	0	0.000157383	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														8			8		0	0	0.000274275	0	0
DCAF6	55827	broad.mit.edu	37	1	167962515	167962515	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:167962515C>T	uc001gew.3	+	6	1093	c.740C>T	c.(739-741)tCc>tTc	p.S247F	DCAF6_uc001gex.3_Missense_Mutation_p.S247F|DCAF6_uc010plk.2_Missense_Mutation_p.S216F|DCAF6_uc001gev.3_Missense_Mutation_p.S247F|DCAF6_uc001gey.3_Missense_Mutation_p.S100F	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	247					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTTATTCCTTCCCATCTTAAT	0.333000														70			17		0	0	0.000229342	0	0
TNS3	64759	broad.mit.edu	37	7	47454806	47454806	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:47454806T>C	uc003tnw.3	-	11	832	c.474_splice	c.e11-1	p.R158_splice	TNS3_uc010kyo.1_Splice_Site_p.R158_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	158	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGAACATACCTGCAAAACGGA	0.537000														7			4		0	0	0.000602214	0	0
RASEF	158158	broad.mit.edu	37	9	85615844	85615844	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:85615844C>T	uc004amo.1	-	9	1665	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	468					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAAAGCTCTCCTGCACCCCGT	0.502000														26			17		0	0	0.000958276	0	0
SPNS3	201305	broad.mit.edu	37	17	4349427	4349427	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:4349427G>C	uc002fxt.3	+	3	531	c.487G>C	c.(487-489)Gac>Cac	p.D163H	SPNS3_uc002fxu.3_Missense_Mutation_p.D36H	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	163					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGTCCTGGGCGACCTCTTCGT	0.627000														24			25		0	0	0.000586117	0	0
RPN1	6184	broad.mit.edu	37	3	128339278	128339278	+	Silent	SNP	G	A	A	rs142951968		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:128339278G>A	uc003ekr.1	-	9	1876	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	RPN1_uc011bkq.1_Silent_p.I428I	NM_002950	NP_002941	P04843	RPN1_HUMAN	Homo sapiens ribophorin I (RPN1), mRNA.	600					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGATGTGGTCGATCTTGGTGA	0.602000			T	EVI1	AML									45			13		0	0	0.000219431	0	0
ZNF358	140467	broad.mit.edu	37	19	7585296	7585296	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:7585296C>T	uc002mgn.2	+	1	1338	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	ZNF358_uc021unu.1_Missense_Mutation_p.L390F|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	390					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S389I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGCCTCCAGCCTCACCAAGCA	0.716000														17			7		0	0	8.12818e-05	0	0
OR56B4	196335	broad.mit.edu	37	11	6129011	6129011	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6129011G>A	uc010qzx.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATTCCATGGATACCTCCA	0.488000														24			18		0	0	0.000229342	0	0
SPEF2	79925	broad.mit.edu	37	5	35740049	35740050	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:35740049_35740050GG>AA	uc003jjo.3	+	21	3203_3204	c.3092_3093GG>AA	c.(3091-3093)tgg>tAA	p.W1031*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.W517*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1031					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACCTTACTGGGAACTAATAG	0.342000														33			16		0	0	6.4e-05	0	0
OR11G2	390439	broad.mit.edu	37	14	20666112	20666112	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20666112C>T	uc010tlb.2	+	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAATGTCCTTCTGTGGATCTA	0.438000														21			39		0	0	0.00111076	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095057	16095057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:16095057C>T	uc001axd.1	+	5	916	c.473C>T	c.(472-474)cCc>cTc	p.P158L	FBLIM1_uc001axe.1_Missense_Mutation_p.P158L|FBLIM1_uc001axg.1_Missense_Mutation_p.P158L|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	158	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGCCCGGTCCCCTCAGGCCC	0.647000														20			11		0	0	0.000219431	0	0
POTEF	728378	broad.mit.edu	37	2	130832395	130832395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:130832395C>T	uc010fmh.2	-	16	3050	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	884	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCAGGCAGTTCCCGCCCAGCC	0.592000														6			17		0	0	0.000422831	0	0
SNRPN	6638	broad.mit.edu	37	15	25200198	25200198	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:25200198G>A	uc001ywu.3	+	0	129	c.3G>A	c.(1-3)atG>atA	p.M1I	SNRPN_uc001ywp.1_Intron|SNRPN_uc001ywq.1_Intron|SNRPN_uc001ywr.1_Intron|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_Intron|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'Flank	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTGACGCGATGGAGCGGGCAA	0.602000									Prader-Willi syndrome					31			16		0	0	0.000566183	0	0
C9	735	broad.mit.edu	37	5	39341799	39341799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:39341799G>A	uc003jlv.4	-	2	276	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	63	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTCTTGAACGAAACTGCACA	0.438000														21			20		0	0	0.000229342	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420820	55420820	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:55420820C>T	uc001sgp.4	+	1	975	c.597C>T	c.(595-597)gtC>gtT	p.V199V	NEUROD4_uc021qyr.1_Silent_p.V199V	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	199					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.V199I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCATCTCTGTCCACAACTTCA	0.502000														55			34		0	0	0.000814825	0	0
CFTR	1080	broad.mit.edu	37	7	117282597	117282597	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:117282597G>A	uc003vjd.3	+	22	3955	c.3823G>A	c.(3823-3825)Gat>Aat	p.D1275N	CFTR_uc011knq.2_Missense_Mutation_p.D681N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1275	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTGTCTTGGGATTCAATAAC	0.403000									Cystic Fibrosis					29			17		0	0	0.00074312	0	0
KCNT2	343450	broad.mit.edu	37	1	196311223	196311223	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:196311223G>A	uc001gtd.1	-	14	1599	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Silent_p.F513F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.F513F|KCNT2_uc001gth.1_Silent_p.F34F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	513	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTGTGCATGGAAAGAGGCAT	0.328000														45			107		0	0	0.000781405	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999708	46999708	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:46999708G>A	uc001jec.3	+	2	963	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GPRIN2_uc021ppt.1_Silent_p.V276V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	276										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCATGGGGTGAAGATCCACT	0.622000														34			14		0	0	0.000308642	0	0
MYOM2	9172	broad.mit.edu	37	8	2037889	2037889	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:2037889C>T	uc003wpx.4	+	14	1841	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L	MYOM2_uc011kwi.2_5'UTR	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	568	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAGATCCCCGAGATATGCC	0.562000														29			26		0	0	0.000878237	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421760	62421760	+	Silent	SNP	G	A	A	rs150383808		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:62421760G>A	uc002ygv.2	-	1	552	c.351C>T	c.(349-351)atC>atT	p.I117I	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCTTGCACGATGTCCGTCA	0.597000														12			15		0	0	0.000422831	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533279	47533279	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47533279G>A	uc001cqu.1	+	0	120	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	39						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGAGATGGATGATCAGAGCCC	0.522000														39			23		0	0	0.000720815	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237214	22237214	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22237214G>A	uc001wbt.1	+	1	298	c.291G>A	c.(289-291)agG>agA	p.R97R	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		AAGAAAAAAGGAAAGAAAGAC	0.443000														48			59		0	0	0.000781405	0	0
OR6C75	390323	broad.mit.edu	37	12	55759590	55759590	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:55759590G>A	uc010spk.2	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGTCAAAGGAAAAAAGCCT	0.398000														41			25		0	0	0.000375601	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281711	69281711	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:69281711C>T	uc009xpn.1	-	4	591	c.468G>A	c.(466-468)agG>agA	p.R156R	CTNNA3_uc001jmw.2_Silent_p.R156R|CTNNA3_uc001jmx.4_Silent_p.R156R|CTNNA3_uc009xpo.1_Silent_p.R16R|CTNNA3_uc001jna.2_Silent_p.R168R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	156					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTCAAATGTCCTTTGAAACT	0.378000														28			17		0	0	0.000958276	0	0
DNAH17	8632	broad.mit.edu	37	17	76503677	76503677	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:76503677C>T	uc010dhp.2	-	27	4572	c.4447G>A	c.(4447-4449)Gac>Aac	p.D1483N		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGACGGAGTCCGCCGTGGAC	0.602000														9			5		0	0	0.000602214	0	0
ANK3	288	broad.mit.edu	37	10	61833842	61833842	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:61833842C>T	uc001jky.3	-	36	7135	c.6797G>A	c.(6796-6798)aGa>aAa	p.R2266K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2266					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						TTCTTCAATTCTTTCAGATGC	0.463000														72			43		0	0	0.000437636	0	0
TLR4	7099	broad.mit.edu	37	9	120475442	120475442	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:120475442C>T	uc004bjz.3	+	2	1327	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	TLR4_uc004bkb.3_Missense_Mutation_p.P146S|TLR4_uc004bka.3_Missense_Mutation_p.P306S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	346					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGACAGTTTCCCACATTGAA	0.358000														52			34		0	0	0.00111076	0	0
ABCC9	10060	broad.mit.edu	37	12	21960321	21960321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:21960321G>A	uc001rfh.3	-	35	4428	c.4408C>T	c.(4408-4410)Ctt>Ttt	p.L1470F	ABCC9_uc001rfi.1_Missense_Mutation_p.L1470F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1470	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCATAATAAGAATGCTGCTT	0.423000														75			46		0	0	0.000781405	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130495	52130495	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:52130495G>A	uc002pxe.3	-	6	1428	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCCGAGGTTCGATCTCCCTGC	0.557000														31			9		0	0	0.000442599	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718157	142718157	+	Silent	SNP	G	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:142718157G>T	uc022cfm.1	-	0	768	c.768C>A	c.(766-768)acC>acA	p.T256T	SLITRK4_uc022cfl.1_Silent_p.T256T|SLITRK4_uc004fbx.3_Silent_p.T256T|SLITRK4_uc004fby.3_Silent_p.T256T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	256	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTTTGTTGGTTTCTTTTA	0.458000														36			7		2.0095e-06	1.5116e-05	8.12818e-05	1	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														71			40		0	0	0.000589545	0	0
KIF6	221458	broad.mit.edu	37	6	39325081	39325081	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:39325081C>T	uc003oot.2	-	18	2247	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	KIF6_uc003oos.2_Missense_Mutation_p.E169K|KIF6_uc010jwz.1_Missense_Mutation_p.E93K|KIF6_uc010jxa.1_Missense_Mutation_p.E509K|KIF6_uc011dua.1_Missense_Mutation_p.E701K|KIF6_uc010jxb.1_Missense_Mutation_p.E662K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	718					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGACCATTCATGCTGGGAG	0.473000														130			47		0	0	0.000781405	0	0
AK302694	0	broad.mit.edu	37	10	30993467	30993467	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:30993467C>T	uc010qdx.1	+	6	1163	c.621C>T	c.(619-621)caC>caT	p.H207H						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		TGGAAGGACACCACAGGAGGC	0.567000														13			4		0	0	0.00116845	0	0
ASTN2	23245	broad.mit.edu	37	9	119858420	119858420	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:119858420G>A	uc004bjt.2	-	3	1127	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	ASTN2_uc022bml.1_Silent_p.S42S|ASTN2_uc022bmm.1_Silent_p.S42S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	393						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCTCCCAAAGCTGATTCCTC	0.542000														18			14		0	0	0.000219431	0	0
PDZD2	23037	broad.mit.edu	37	5	32048645	32048645	+	Splice_Site	SNP	G	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:32048645G>T	uc003jhl.3	+	8	1908	c.1520_splice	c.e8-1	p.G507_splice	PDZD2_uc003jhm.3_Splice_Site_p.G507_splice|PDZD2_uc011cnx.1_Splice_Site_p.G333_splice	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	507					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTTCTCAAGGGGGTGTACAC	0.488000														14			10		2.27111e-07	1.71132e-06	0.00136819	1	0
CITED2	10370	broad.mit.edu	37	6	139695073	139695073	+	Silent	SNP	G	A	A	rs148956290		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:139695073G>A	uc021zfz.1	-	1	99	c.9C>T	c.(7-9)gaC>gaT	p.D3D	CITED2_uc021zga.1_Silent_p.D3D|CITED2_uc003qip.1_Silent_p.D3D|CITED2_uc021zgb.1_Silent_p.D3D	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	3					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CCATCATATGGTCTGCCATTT	0.637000														6			5		0	0	0.000602214	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:56468689G>A	uc021wzo.1	-	0	487	c.347C>T	c.(346-348)tCa>tTa	p.S116L	ERC2_uc003dhr.1_Missense_Mutation_p.S116L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000														63			38		0	0	0.00111076	0	0
ANK2	287	broad.mit.edu	37	4	114276157	114276157	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:114276157C>T	uc003ibe.4	+	37	6483	c.6383C>T	c.(6382-6384)cCa>cTa	p.P2128L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2143L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2095					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGATCAGCCCAGATAGGAAA	0.473000														22			17		0	0	0.000958276	0	0
SERBP1	26135	broad.mit.edu	37	1	67895945	67895945	+	Silent	SNP	G	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:67895945G>C	uc001ddv.3	-	0	179	c.39C>G	c.(37-39)gtC>gtG	p.V13V	SERBP1_uc001ddy.3_Silent_p.V13V|SERBP1_uc001ddw.3_Silent_p.V13V|SERBP1_uc001ddx.3_Silent_p.V13V	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	13					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATCGGTTGGTGACCACGCAGC	0.627000														54			20		0	0	0.000375601	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475751	140475751	+	Silent	SNP	C	T	T	rs17844374		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140475751C>T	uc003lil.3	+	0	1515	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	PCDHB2_uc003lim.1_Silent_p.T120T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTACACCCTGTTCGTCC	0.627000														53			29		0	0	0.000339439	0	0
ZBBX	79740	broad.mit.edu	37	3	167045778	167045778	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:167045778C>T	uc011bpc.2	-	10	1151	c.814G>A	c.(814-816)Gga>Aga	p.G272R	ZBBX_uc003feq.3_Missense_Mutation_p.G243R|ZBBX_uc003fep.3_Missense_Mutation_p.G272R	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	272						intracellular	zinc ion binding	p.T271T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCATGATTTCCGGTTCTCCAT	0.378000														84			48		0	0	0.000781405	0	0
THSD7B	80731	broad.mit.edu	37	2	137928435	137928435	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:137928435G>A	uc002tva.1	+	5	1557	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G409G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCAGAAGGGATCTGTTTCC	0.537000														19			22		0	0	0.00152264	0	0
RXFP1	59350	broad.mit.edu	37	4	159569761	159569761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:159569761G>A	uc003ipz.3	+	16	2130	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RXFP1_uc010iqk.3_Missense_Mutation_p.E491K|RXFP1_uc011cja.2_Missense_Mutation_p.E518K|RXFP1_uc010iqo.3_Missense_Mutation_p.E575K|RXFP1_uc011cjb.2_Missense_Mutation_p.E521K|RXFP1_uc011cjc.2_Missense_Mutation_p.E542K|RXFP1_uc011cjd.2_Missense_Mutation_p.E542K|RXFP1_uc010iql.3_Missense_Mutation_p.E467K|RXFP1_uc011cje.2_Missense_Mutation_p.E650K|RXFP1_uc010iqm.3_Missense_Mutation_p.E590K|RXFP1_uc011cjf.2_Missense_Mutation_p.E492K|RXFP1_uc010iqn.3_Missense_Mutation_p.E568K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	623						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGTTAAAAAAGAGATGATCCT	0.343000														42			36		0	0	0.000814825	0	0
MICAL2	9645	broad.mit.edu	37	11	12263965	12263965	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:12263965G>A	uc001mjz.3	+	18	2830	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.3_Missense_Mutation_p.E848K|MICAL2_uc010rci.2_Missense_Mutation_p.E848K|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Intron|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	848						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAAGTGGAGGAAAAGATTCT	0.597000														21			10		0	0	0.000673444	0	0
KRT37	8688	broad.mit.edu	37	17	39580551	39580551	+	Silent	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:39580551A>G	uc002hwp.1	-	0	272	c.225T>C	c.(223-225)acT>acC	p.T75T		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	75	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGGACAAGCAGTGTGACTGG	0.612000														32			19		0	0	0.000958276	0	0
AGXT2	64902	broad.mit.edu	37	5	35035329	35035329	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:35035329G>A	uc003jjf.3	-	4	822	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AGXT2_uc011com.2_Silent_p.F193F|AGXT2_uc011con.2_Silent_p.F101F	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	193					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTGATTACCTGAAAGAAATGA	0.443000														100			53		0	0	0.000781405	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089484	115089484	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:115089484A>T	uc001vuv.3	+	2	499	c.167A>T	c.(166-168)cAg>cTg	p.Q56L	CHAMP1_uc010tko.2_Missense_Mutation_p.Q56L|CHAMP1_uc010ahb.3_Missense_Mutation_p.Q56L|CHAMP1_uc021rmx.1_Missense_Mutation_p.Q56L	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	56					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ATATTTTACCAGAAAAGTGCA	0.393000														23			14		0	0	0.000151284	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870823	15870823	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:15870823C>T	uc002yju.1	-	6	941	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	SAMSN1_uc010gky.1_Missense_Mutation_p.E119K|SAMSN1_uc002yjv.1_Missense_Mutation_p.E355K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	287	SAM.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTGGGTTTTCAATATTTAAT	0.363000														37			19		0	0	0.000958276	0	0
WFS1	7466	broad.mit.edu	37	4	6304159	6304159	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6304159C>T	uc003giy.3	+	7	2803	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	WFS1_uc003gix.3_Silent_p.F879F|WFS1_uc003giz.3_Silent_p.F697F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	879	Poly-Phe.				ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGTTCGCCTTCGACTTCTTTT	0.627000														87			54		0	0	0.000781405	0	0
C3orf24	115795	broad.mit.edu	37	3	10146202	10146202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:10146202C>T	uc003buz.3	-	1	482	c.257G>A	c.(256-258)gGa>gAa	p.G86E	C3orf24_uc003bva.2_Missense_Mutation_p.G86E|C3orf24_uc021wsy.1_Missense_Mutation_p.G86E	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	86										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		CCTGACCAGTCCTTTGTTGTT	0.537000														35			17		0	0	0.000958276	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061512	117061512	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:117061512C>T	uc001lcg.3	+	16	3163	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	ATRNL1_uc010qsm.2_Missense_Mutation_p.P101L|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	926	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCTCTTTTCCATATGGACAA	0.418000														46			25		0	0	0.001512	0	0
ALPK2	115701	broad.mit.edu	37	18	56204273	56204273	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:56204273G>A	uc002lhj.4	-	4	3360	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	ALPK2_uc002lhk.1_Missense_Mutation_p.S380F	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1049							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGGAAATTGGGAAACCTTTTC	0.493000														42			15		0	0	0.000566183	0	0
WDR38	401551	broad.mit.edu	37	9	127618183	127618183	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:127618183G>A	uc011lzo.2	+	3	407	c.351G>A	c.(349-351)tcG>tcA	p.S117S	WDR38_uc011lzn.2_Silent_p.S106S|WDR38_uc011lzp.2_Silent_p.S68S|WDR38_uc004box.3_Silent_p.S117S	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	Homo sapiens WD repeat domain 38 (WDR38), mRNA.	117										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCCCTGACTCGAGACAGCTGG	0.622000											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			25		0	0	0.00127121	0	0
AZGP1	563	broad.mit.edu	37	7	99565926	99565926	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:99565926G>A	uc003ush.3	-	2	557	c.465C>T	c.(463-465)gtC>gtT	p.V155V		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	155					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.W154S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTCGAAGGGGACCCAGGCTG	0.517000														72			36		0	0	0.000953801	0	0
ESR2	2100	broad.mit.edu	37	14	64735629	64735629	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:64735629C>T	uc001xha.1	-	4	1004	c.536_splice	c.e4-1	p.G179_splice	ESR2_uc001xgy.2_Splice_Site_p.G179_splice|ESR2_uc001xgu.3_Splice_Site_p.G179_splice|ESR2_uc001xgv.3_Splice_Site_p.G179_splice|ESR2_uc001xgw.3_Splice_Site|ESR2_uc001xgx.3_Splice_Site_p.G179_splice|ESR2_uc010aqb.1_Splice_Site|ESR2_uc010aqc.1_Splice_Site_p.G179_splice|ESR2_uc001xgz.2_Splice_Site_p.G179_splice	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	179					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATCATTATGTCCTATAGCAGA	0.418000														83			28		0	0	0.001512	0	0
DOCK3	1795	broad.mit.edu	37	3	51101978	51101978	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:51101978G>A	uc011bds.2	+	5	438	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	139						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGATCAGGTGCGGGAGGT	0.448000														65			30		0	0	0.000491102	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:248437021G>A	uc010pzi.2	-	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000														85			12		0	0	0.000375601	0	0
CEP78	84131	broad.mit.edu	37	9	80879234	80879234	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:80879234T>G	uc004aky.4	+	13	1904	c.1628_splice	c.e13+2	p.G543_splice	CEP78_uc004akx.2_Splice_Site_p.G542_splice|CEP78_uc010mpp.3_Splice_Site_p.G543_splice|CEP78_uc004akz.1_Splice_Site_p.G30_splice	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	542					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGATGCTGGGTTAGTTACTTT	0.373000														23			17		0	0	0.000229342	0	0
FCRL5	83416	broad.mit.edu	37	1	157490968	157490968	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:157490968C>T	uc009wsm.3	-	10	2512	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	FCRL5_uc001fqu.3_Missense_Mutation_p.R785Q	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	785	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGAAAAAACCGGTACAGGAT	0.597000														28			61		0	0	0.000781405	0	0
TRPM4	54795	broad.mit.edu	37	19	49685891	49685891	+	Silent	SNP	C	T	T	rs145772095		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:49685891C>T	uc002pmw.3	+	10	1428	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TRPM4_uc010emu.3_Silent_p.F440F|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.F266F|TRPM4_uc010emv.3_Silent_p.F325F|TRPM4_uc010yal.2_Silent_p.F86F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	440					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCTGAGTTCGTGCGCTTGC	0.607000														21			8		0	0	0.000673444	0	0
TET3	200424	broad.mit.edu	37	2	74274397	74274397	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:74274397C>T	uc002skb.4	+	0	948	c.948C>T	c.(946-948)ccC>ccT	p.P316P	TET3_uc010fez.2_Silent_p.P316P	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	316							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCTGGCCCATGCCTCGCC	0.617000														17			11		0	0	0.000151284	0	0
C18orf34	374864	broad.mit.edu	37	18	30873194	30873194	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:30873194C>T	uc010xbr.1	-	10	1247	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	C18orf34_uc002kxn.2_Missense_Mutation_p.E369K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E369K|C18orf34_uc002kxp.3_Missense_Mutation_p.E369K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	369										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ACTTCCTCTTCCTTCTCCTCA	0.294000														43			28		0	0	0.000878237	0	0
C15orf41	84529	broad.mit.edu	37	15	37100597	37100597	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:37100597C>T	uc001zje.4	+	10	1039	c.789C>T	c.(787-789)atC>atT	p.I263I	C15orf41_uc010bbb.1_Silent_p.I165I|C15orf41_uc001zjf.3_Silent_p.I165I|C15orf41_uc010uci.2_Silent_p.I165I|CSNK1A1P1_uc001zjg.4_Intron	NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	263							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AAAGGGGCATCCTGCTCAAAG	0.478000														21			14		0	0	0.000151284	0	0
VWF	7450	broad.mit.edu	37	12	6091093	6091093	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:6091093G>A	uc001qnn.1	-	41	7396	c.7146C>T	c.(7144-7146)acC>acT	p.T2382T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2382					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTTCCGAAGGGTGGGCAAAC	0.602000														33			31		0	0	0.000339439	0	0
SFTPD	6441	broad.mit.edu	37	10	81701173	81701173	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:81701173C>T	uc001kbh.3	-	5	691	c.648G>A	c.(646-648)aaG>aaA	p.K216K		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	216	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CACTTTCTCCCTTTGCTCCTT	0.637000														24			9		0	0	0.000274275	0	0
IKBKE	9641	broad.mit.edu	37	1	206649649	206649650	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:206649649_206649650CG>AT	uc001hdz.2	+	5	1062_1063	c.484_485CG>AT	c.(484-486)cgg>ATg	p.R162M	IKBKE_uc009xbu.2_Missense_Mutation_p.R162M|IKBKE_uc001hea.2_Missense_Mutation_p.R77M|IKBKE_uc009xbv.2_Missense_Mutation_p.R162M	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	162	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGGCGCTGCCCGGGAGCTGGAT	0.609000														82			6		0	0	6.4e-05	0	0
CTSL2	1515	broad.mit.edu	37	9	99800324	99800324	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:99800324A>C	uc010msi.3	-	1	209	c.2T>G	c.(1-3)aTg>aGg	p.M1R	CTSL2_uc004awt.3_Missense_Mutation_p.M1R|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	1						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CGAAAGATTCATGTTTCAAAA	0.398000														36			22		0	0	0.000375601	0	0
NFASC	23114	broad.mit.edu	37	1	204985485	204985485	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:204985485A>C	uc010prc.2	+	26	3570	c.2041A>C	c.(2041-2043)Acc>Ccc	p.T681P	NFASC_uc001hbj.3_Missense_Mutation_p.T1181P|NFASC_uc010pra.2_Missense_Mutation_p.T1115P|NFASC_uc001hbi.3_Missense_Mutation_p.T1110P|NFASC_uc010prb.2_Missense_Mutation_p.T1130P|NFASC_uc001hbl.2_Missense_Mutation_p.T257P|NFASC_uc001hbm.2_Missense_Mutation_p.T204P|NFASC_uc009xbh.2_Silent_p.A35A|NFASC_uc001hbo.2_Silent_p.A56A			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1288	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTGGACGGCACCATCAAGCA	0.587000														69			89		0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1480882	1480882	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:1480882G>A	uc002qwr.3	+	7	930	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A282T|TPO_uc002qwx.3_Missense_Mutation_p.A282T|TPO_uc002qwu.3_Missense_Mutation_p.A282T|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.A282T	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	282					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A282V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGCCGGCCGCGGGCACCGC	0.701000														15			9		0	0	0.000673444	0	0
MKI67	4288	broad.mit.edu	37	10	129904640	129904640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:129904640G>A	uc001lke.3	-	12	5659	c.5464C>T	c.(5464-5466)Cgt>Tgt	p.R1822C	MKI67_uc001lkf.3_Missense_Mutation_p.R1462C|MKI67_uc009yav.1_Missense_Mutation_p.R1397C|MKI67_uc009yaw.1_Missense_Mutation_p.R972C	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1822	16 X 122 AA approximate repeats.				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)				TTTTCCTTACGAGTTTGTAGC	0.473000														87			38		0	0	0.00111076	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:148080748G>A	uc003weu.2	+	21	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1161	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)				33			17		0	0	0.00074312	0	0
KANSL1	284058	broad.mit.edu	37	17	44110807	44110807	+	Nonsense_Mutation	SNP	G	A	A	rs143533965		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:44110807G>A	uc002ikc.3	-	11	3157	c.2686C>T	c.(2686-2688)Cag>Tag	p.Q896*	KANSL1_uc002ikd.3_Nonsense_Mutation_p.Q896*|KANSL1_uc010dav.3_Nonsense_Mutation_p.Q895*|KANSL1_uc010wkb.2_Nonsense_Mutation_p.Q227*|KANSL1_uc010wkc.2_Nonsense_Mutation_p.Q164*	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	896						MLL1 complex	protein binding	p.Q896*(1)									TTCAGAGACTGAAGATCAACC	0.483000														15			8		0	0	0.000442599	0	0
SCN10A	6336	broad.mit.edu	37	3	38783863	38783863	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:38783863G>A	uc003ciq.3	-	12	2025	c.2025C>T	c.(2023-2025)atC>atT	p.I675I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	675					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTTCACCACGATGCACAAGG	0.532000														24			13		0	0	0.000566183	0	0
MED15	51586	broad.mit.edu	37	22	20929492	20929492	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:20929492C>T	uc002zsp.3	+	8	1325	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	MED15_uc002zsq.3_Intron|MED15_uc010gso.3_Intron|MED15_uc002zsr.3_Intron|MED15_uc011ahs.2_Intron|MED15_uc002zss.3_Intron|MED15_uc011ahu.2_Silent_p.I141I|MED15_uc002zst.3_Silent_p.I31I	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	415	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAAGCTCCATCCCTTTGGGCA	0.632000														19			16		0	0	0.000566183	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290822	20290822	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:20290822G>A	uc001iqg.1	+	1	868	c.231G>A	c.(229-231)acG>acA	p.T77T	PLXDC2_uc001iqh.1_Silent_p.T77T	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	77						integral to membrane		p.T77A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CGGTAGACACGAACCGAGCAA	0.537000														21			17		0	0	0.000422831	0	0
RUNX3	864	broad.mit.edu	37	1	25228878	25228878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:25228878G>A	uc009vrj.3	-	6	1271	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	RUNX3_uc001bjq.3_Missense_Mutation_p.S328F|RUNX3_uc010oen.2_Missense_Mutation_p.S275F|RUNX3_uc001bjr.3_Missense_Mutation_p.S342F|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	328	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTGGTAGGGGGACGGGTTGGC	0.692000														21			12		0	0	0.00136819	0	0
MCHR2	84539	broad.mit.edu	37	6	100368841	100368841	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:100368841C>T	uc003pqh.1	-	5	1313	c.998G>A	c.(997-999)gGa>gAa	p.G333E	MCHR2_uc003pqi.1_Missense_Mutation_p.G333E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTGTTTCCCATATTGTT	0.408000														71			31		0	0	0.000409698	0	0
BICD2	23299	broad.mit.edu	37	9	95477665	95477665	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:95477665G>A	uc004asp.1	-	6	2396	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	BICD2_uc004aso.1_Missense_Mutation_p.S780L	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	780	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCAGCAGCGAGTTCAGCGT	0.617000														15			13		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9085435	9085435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9085435G>A	uc002mkp.3	-	0	6584	c.6380C>T	c.(6379-6381)tCg>tTg	p.S2127L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGTGACCGAGGATGCATC	0.493000														57			34		0	0	0.00058488	0	0
OR51B4	79339	broad.mit.edu	37	11	5322389	5322389	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5322389T>A	uc010qza.2	-	0	788	c.788A>T	c.(787-789)aAa>aTa	p.K263I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G262G(1)|p.K263N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTGCATGTTTCCCAAACCT	0.423000														33			18		0	0	0.000229342	0	0
OR4C12	283093	broad.mit.edu	37	11	50003771	50003771	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:50003771G>A	uc010ria.2	-	0	301	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K88*(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAAGGAGATGATTTTCTTCT	0.428000														90			49		0	0	0.000781405	0	0
KLHL14	57565	broad.mit.edu	37	18	30260501	30260501	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:30260501C>T	uc002kxm.1	-	5	1688	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	434						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TAGCCAGTTTCATTCCTTCCA	0.478000														22			21		0	0	0.00121646	0	0
MACF1	23499	broad.mit.edu	37	1	39753053	39753053	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:39753053C>T	uc021olt.1	+	13	1671	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	MACF1_uc021ols.1_Missense_Mutation_p.P540L|MACF1_uc001cdc.2_Missense_Mutation_p.P540L|MACF1_uc001cda.1_Missense_Mutation_p.P448L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	540					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGTTCCACCCTCTACTTTA	0.488000														107			65		0	0	0.000781405	0	0
NF1	4763	broad.mit.edu	37	17	29576111	29576111	+	Nonsense_Mutation	SNP	C	T	T	rs137854560		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:29576111C>T	uc002hgg.3	+	29	4467	c.4084C>T	c.(4084-4086)Cga>Tga	p.R1362*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1362*|NF1_uc010csn.2_Nonsense_Mutation_p.R1222*|NF1_uc002hgi.1_Nonsense_Mutation_p.R395*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1362	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.R1362*(10)|p.0?(8)|p.?(4)|p.R1362fs*18(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCTCAACTTCGAAGTGTGTG	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				77			44		0	0	0.000781405	0	0
HECTD3	79654	broad.mit.edu	37	1	45472388	45472388	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:45472388G>A	uc009vxk.3	-	12	1799	c.1701C>T	c.(1699-1701)ccC>ccT	p.P567P	HECTD3_uc001cmx.4_5'Flank|HECTD3_uc001cmy.4_Silent_p.P177P|HECTD3_uc010olh.2_Silent_p.P283P	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	567	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GTACAAAGAAGGGCAGGGGCA	0.582000														21			11		0	0	0.000566183	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956084	18956084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18956084G>A	uc001mpg.3	-	0	466	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	83					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S83S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTAACAGGGAATATATAAG	0.522000														132			59		0	0	0.000781405	0	0
KCTD8	386617	broad.mit.edu	37	4	44177155	44177155	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:44177155G>A	uc003gwu.3	-	1	1358	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	358						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGTCACAACTGGAAGTGGAGA	0.463000										HNSCC(17;0.042)				49			29		0	0	0.00127121	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439931	190439931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:190439931C>T	uc002uqp.4	-	2	578	c.227G>A	c.(226-228)gGa>gAa	p.G76E	SLC40A1_uc002uqq.2_Missense_Mutation_p.G76E	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	76					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	p.L75L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GATGATGGCTCCCAGGACCAG	0.493000														85			61		0	0	0.000781405	0	0
SGK223	157285	broad.mit.edu	37	8	8185915	8185915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:8185915G>A	uc003wsh.4	-	3	2377	c.2377C>T	c.(2377-2379)Ccg>Tcg	p.P793S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	793							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAAGGAAACGGAACGGGAGCA	0.607000														18			15		0	0	0.000308642	0	0
BTNL9	153579	broad.mit.edu	37	5	180475028	180475028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:180475028G>A	uc003mmt.3	+	2	442	c.211G>A	c.(211-213)Gag>Aag	p.E71K	BTNL9_uc011dhi.1_Missense_Mutation_p.E2K	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	71	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCAAATGGAGATCCGCTG	0.622000														21			10		0	0	0.000673444	0	0
PEG3	5178	broad.mit.edu	37	19	57328348	57328348	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:57328348G>A	uc002qnu.2	-	6	1813	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H459Y|PEG3_uc002qnv.2_Missense_Mutation_p.H488Y|PEG3_uc002qnw.2_Missense_Mutation_p.H364Y|PEG3_uc002qnx.2_Missense_Mutation_p.H362Y|PEG3_uc010etr.2_Missense_Mutation_p.H488Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	488					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I487M(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACACTGTGGATAAAGGAC	0.463000														79			53		0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:86468433G>A	uc003uid.3	+	3	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E407K|GRM3_uc010leh.3_Missense_Mutation_p.E127K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	535					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCCCTGTGAACCCTACGA	0.532000														39			39		0	0	0.000781405	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052847	193052847	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:193052847C>T	uc011bsq.2	-	9	985	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	329					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATAGTGTTCTCCATCTGGGGC	0.438000														71			40		0	0	0.000781405	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728221	42728221	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:42728221G>A	uc003clv.1	+	0	1211	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	371										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTCTACAACGAAGACAACAA	0.577000														21			8		0	0	0.000274275	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793527	65793527	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:65793527G>A	uc001ogt.3	-	0	462	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	108	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CGTAGGAACGGTGGGAGGGGA	0.607000														51			39		0	0	0.000781405	0	0
THAP4	51078	broad.mit.edu	37	2	242573101	242573101	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:242573101C>T	uc002wbt.3	-	1	764	c.471G>A	c.(469-471)gcG>gcA	p.A157A		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	157							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCTCCTGGGCCGCCCTGGGTG	0.642000														27			15		0	0	0.000422831	0	0
COL14A1	7373	broad.mit.edu	37	8	121238909	121238909	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:121238909G>A	uc003yox.3	+	15	2173	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	COL14A1_uc003yoy.3_Silent_p.T314T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGAGGTGACGACAGACAGTT	0.478000														33			19		0	0	0.000958276	0	0
MRPL32	64983	broad.mit.edu	37	7	42974677	42974677	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:42974677G>A	uc003tia.3	+	1	301	c.254G>A	c.(253-255)cGc>cAc	p.R85H	C7orf25_uc010kxr.3_5'Flank|PSMA2_uc003thy.3_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	85					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	p.R85H(4)|p.R85C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AAAAATAGACGCACCATTGAA	0.423000														35			12		0	0	0.000308642	0	0
DPYD	1806	broad.mit.edu	37	1	98039412	98039412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:98039412C>T	uc001drv.3	-	10	1380	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	415					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCCAGTTTCATCTTGCTCT	0.438000														58			37		0	0	0.00058488	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	A	A	rs141164035		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:24256521G>A	uc003xdz.2	+	8	1117	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ADAMDEC1_uc010lub.2_Silent_p.G220G|ADAMDEC1_uc011lab.1_Silent_p.G220G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000														26			12		0	0	0.00136819	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:111353546C>T	uc001try.4	-	2	213	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_uc001trx.4_Missense_Mutation_p.D29N	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000														88			55		0	0	0.000781405	0	0
GLIS3	169792	broad.mit.edu	37	9	4286122	4286122	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:4286122G>A	uc003zhx.1	-	1	1017	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	GLIS3_uc003zic.1_Nonsense_Mutation_p.Q102*|GLIS3_uc003zie.1_Nonsense_Mutation_p.Q102*|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Nonsense_Mutation_p.Q102*	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	334	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTCCAGCCTGGGTGACCTGG	0.537000														45			27		0	0	0.00106085	0	0
MAGI1	9223	broad.mit.edu	37	3	65364976	65364976	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:65364976G>A	uc003dmn.3	-	16	3481	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	MAGI1_uc003dmm.3_Silent_p.I1013I|MAGI1_uc003dmo.3_Silent_p.I1013I|MAGI1_uc003dmp.3_Silent_p.I985I|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Silent_p.I296I	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1013	Interaction with FCHSD2.|PDZ 5.|Poly-Gly.				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)		CCGAGGACACGATGACGAAGC	0.642000														5			4		0	0	0.00024832	0	0
FAM53C	51307	broad.mit.edu	37	5	137680896	137680896	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:137680896C>T	uc003lcv.3	+	3	989	c.519C>T	c.(517-519)ctC>ctT	p.L173L	FAM53C_uc003lcw.3_Silent_p.L173L|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	173										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGGTTCCTCCAAGCTCCCA	0.642000														59			27		0	0	0.00127121	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603320	47603320	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47603320C>T	uc001cqv.1	+	0	214	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	CYP4A22_uc009vyo.3_Missense_Mutation_p.P55S|CYP4A22_uc009vyp.3_Missense_Mutation_p.P55S	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	55						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGTGCCCTCCCTCCCACTG	0.612000														17			10		0	0	0.000673444	0	0
ZBED4	9889	broad.mit.edu	37	22	50277355	50277355	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:50277355C>T	uc003bix.2	+	1	515	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ZBED4_uc021wrx.1_Silent_p.F15F	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	15						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGTGATTTCGTTTCTGATA	0.383000														15			25		0	0	0.00047179	0	0
SGIP1	84251	broad.mit.edu	37	1	67105490	67105490	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:67105490T>C	uc001dcr.3	+	4	419	c.202T>C	c.(202-204)Tat>Cat	p.Y68H		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	68					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAATGGATTTTATGCGGAAAT	0.284000														49			24		0	0	0.001512	0	0
LRFN2	57497	broad.mit.edu	37	6	40400383	40400383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:40400383G>A	uc003oph.1	-	1	935	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	157						cell junction|integral to membrane|postsynaptic membrane		p.L156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTGTTGTAGGAGAGGTCCAG	0.582000														54			23		0	0	0.000375601	0	0
IL10	3586	broad.mit.edu	37	1	206944372	206944372	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:206944372C>T	uc001hen.1	-	2	317	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	86					B cell differentiation|B cell proliferation|anti-apoptosis|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAACTGGATCATCTCAGACA	0.572000														117			22		0	0	0.00047179	0	0
FLRT2	23768	broad.mit.edu	37	14	86089489	86089489	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:86089489C>T	uc021rxf.1	+	0	1631	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	FLRT2_uc001xvr.3_Missense_Mutation_p.A544V|FLRT2_uc010atd.3_Missense_Mutation_p.A544V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	544					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTCTGCTGGCGGGCTTGATC	0.597000														65			32		0	0	0.000692331	0	0
OR51B4	79339	broad.mit.edu	37	11	5322697	5322697	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5322697G>A	uc010qza.2	-	0	480	c.480C>T	c.(478-480)ctC>ctT	p.L160L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGCAGTAGAGTGAAAGAA	0.438000														48			35		0	0	0.00058488	0	0
OR5M9	390162	broad.mit.edu	37	11	56230572	56230572	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:56230572G>A	uc010rjj.2	-	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAACGGCAATGAAAAAGTAGC	0.468000														48			38		0	0	0.000781405	0	0
TRERF1	55809	broad.mit.edu	37	6	42211038	42211038	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:42211038C>T	uc003ose.2	-	14	3430	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	TRERF1_uc011duq.1_Missense_Mutation_p.R853Q|TRERF1_uc003osb.2_Missense_Mutation_p.R692Q|TRERF1_uc003osc.2_Missense_Mutation_p.R692Q|TRERF1_uc003osd.2_Missense_Mutation_p.R936Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	936	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCCCCAGCCGCATGATCTT	0.557000														171			32		0	0	0.00058488	0	0
PCLO	27445	broad.mit.edu	37	7	82584171	82584171	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:82584171G>A	uc003uhx.2	-	4	6387	c.6098C>T	c.(6097-6099)tCt>tTt	p.S2033F	PCLO_uc003uhv.2_Missense_Mutation_p.S2033F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1964					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGATAAAAGAGCTTGAAAC	0.388000														37			24		0	0	0.000295444	0	0
PSG7	5676	broad.mit.edu	37	19	43429958	43429958	+	Missense_Mutation	SNP	C	T	T	rs151272638		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:43429958C>T	uc002ovl.4	-	5	1309	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E282K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	404	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTGGAGCTTTCCTTGCCAGTG	0.468000														93			82		0	0	0.000781405	0	0
FBP1	2203	broad.mit.edu	37	9	97369103	97369103	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:97369103G>A	uc004auw.4	-	4	1030	c.699C>T	c.(697-699)ttC>ttT	p.F233F	FBP1_uc010mrl.3_Silent_p.F233F	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	233			F -> I (in dbSNP:rs2297085).		gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTACTGGGGGGAACTTCTTCC	0.562000														11			5		0	0	0.000602214	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865086	42865086	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:42865086A>G	uc001chi.2	+	1	313	c.175A>G	c.(175-177)Aac>Gac	p.N59D		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	59					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTCCAGCTAAACCAGAAGGC	0.527000														11			5		0	0	0.00116845	0	0
GABRA6	2559	broad.mit.edu	37	5	161119083	161119083	+	Silent	SNP	C	T	T	rs148840190		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:161119083C>T	uc003lyu.2	+	7	1301	c.963C>T	c.(961-963)ttC>ttT	p.F321F	GABRA6_uc003lyv.2_Silent_p.F92F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	321					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.F321F(4)|p.E320*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATCGAGTTCGCAGCTGTCA	0.478000										TCGA Ovarian(5;0.080)				48			28		0	0	0.001512	0	0
VAV3	10451	broad.mit.edu	37	1	108303475	108303475	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:108303475C>T	uc001dvk.1	-	9	1002	c.948G>A	c.(946-948)ggG>ggA	p.G316G	VAV3_uc010ouw.1_Silent_p.G316G|VAV3_uc001dvl.1_Silent_p.G140G|VAV3_uc010oux.1_Silent_p.G316G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	316	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GAGTAAATTTCCCATTATTTG	0.353000														19			7		0	0	0.000157383	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	A	A	rs147779020	by1000genomes	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:112777075G>A	uc002thk.1	+	15	2287	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_uc002thl.1_Missense_Mutation_p.R546Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000														41			22		0	0	0.000229342	0	0
OR52E2	119678	broad.mit.edu	37	11	5079927	5079927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5079927C>T	uc010qyw.2	-	0	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTCCTTGTTCCTGCAATAAT	0.348000														56			36		0	0	0.000953801	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:10920116C>T	uc002yip.1	-	18	1506	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATTTTTCGCTGTGGGTT	0.393000														90			15		0	0	0.000308642	0	0
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:10906987C>T	uc002yip.1	-	23	1942	c.1574G>A	c.(1573-1575)aGa>aAa	p.R525K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507K|TPTE_uc002yir.1_Missense_Mutation_p.R487K|TPTE_uc010gkv.1_Missense_Mutation_p.R387K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T524I(1)|p.T524S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358000														65			8		0	0	0.000157383	0	0
ZNF623	9831	broad.mit.edu	37	8	144733649	144733649	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:144733649T>A	uc003yzd.2	+	0	1696	c.1607T>A	c.(1606-1608)tTa>tAa	p.L536*	ZNF623_uc011lkp.1_Nonsense_Mutation_p.L496*|ZNF623_uc003yzc.2_Nonsense_Mutation_p.L496*	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGGTAACTTATAAAATAAT	0.413000														7			44		0	0	0.000781405	0	0
ABCA13	154664	broad.mit.edu	37	7	48391796	48391796	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:48391796C>T	uc003toq.2	+	30	10424	c.10400C>T	c.(10399-10401)tCc>tTc	p.S3467F	ABCA13_uc010kys.1_Missense_Mutation_p.S541F|ABCA13_uc003tos.1_Missense_Mutation_p.S293F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3467					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCAATTCCTTATTCGAC	0.463000														59			36		0	0	0.000953801	0	0
RETN	56729	broad.mit.edu	37	19	7734321	7734321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:7734321G>A	uc002mhg.1	+	1	146	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	RETN_uc002mhf.1_Missense_Mutation_p.G37S|RETN_uc010dvm.1_Non-coding_Transcript	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	37							hormone activity			ovary(1)	1						GGAGGTCGCCGGCTCCCTAAG	0.612000														73			10		0	0	0.000442599	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6301907	6301907	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:6301907C>T	uc002kmz.4	-	3	282	c.122G>A	c.(121-123)aGt>aAt	p.S41N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.S41N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.S41N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	41					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTACCGTGACTCAAAGGGGT	0.338000														89			52		0	0	0.000781405	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087196	6087196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6087196C>T	uc010idb.1	-	3	1271	c.785G>A	c.(784-786)aGa>aAa	p.R262K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R97K|JAKMIP1_uc010idd.1_Missense_Mutation_p.R262K|JAKMIP1_uc003giu.4_Missense_Mutation_p.R262K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R97K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R262K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R262K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	262	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGGAGCTCTCTCTTTGGACT	0.627000														27			10		0	0	0.000978159	0	0
ALPK1	80216	broad.mit.edu	37	4	113352855	113352855	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:113352855C>T	uc003ian.4	+	10	2379	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	ALPK1_uc003iap.4_Missense_Mutation_p.R718C|ALPK1_uc011cfx.2_Missense_Mutation_p.R640C|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.R546C	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	718							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACCCTCATATCGTTCTGCTTC	0.473000														28			32		0	0	0.000814825	0	0
FN1	2335	broad.mit.edu	37	2	216262425	216262425	+	Silent	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:216262425T>C	uc002vfa.3	-	21	3761	c.3495A>G	c.(3493-3495)ccA>ccG	p.P1165P	FN1_uc002vfc.3_Silent_p.P1165P|FN1_uc002vfe.3_Silent_p.P1165P|FN1_uc002vff.3_Silent_p.P1165P|FN1_uc002vfg.3_Silent_p.P1165P|FN1_uc002vfh.3_Silent_p.P1165P|FN1_uc002vfi.3_Silent_p.P1165P|FN1_uc002vfj.3_Silent_p.P1165P|FN1_uc002vfb.3_Silent_p.P1165P	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1165	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTTACAATTGGCGCATCTC	0.403000														58			32		0	0	0.000953801	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43840439	43840439	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:43840439G>A	uc010skx.2	-	14	2156	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	719	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCTTGCATGAAGAGTTGTC	0.378000														35			19		0	0	0.00047179	0	0
OR4N5	390437	broad.mit.edu	37	14	20612005	20612005	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20612005C>T	uc010tla.2	+	0	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCTACCTTATCATCCTCCCTG	0.453000														194			71		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10415239	10415239	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:10415239G>A	uc002gmo.3	-	13	1427	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTGATGCGGGTGACCATC	0.463000														92			78		0	0	0.000781405	0	0
FCRL4	83417	broad.mit.edu	37	1	157559066	157559066	+	Missense_Mutation	SNP	C	T	T	rs145332965		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:157559066C>T	uc001fqw.3	-	2	371	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	79	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.E79K(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGTCCAGATTCCCGAACCTCG	0.502000														28			84		0	0	0.000781405	0	0
CEP76	79959	broad.mit.edu	37	18	12699099	12699099	+	Silent	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:12699099A>G	uc002kri.3	-	3	555	c.399T>C	c.(397-399)tgT>tgC	p.C133C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	133					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAACGTTGAACAAACTTGTC	0.393000														53			35		0	0	0.000409698	0	0
BRCA1	672	broad.mit.edu	37	17	41244594	41244594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41244594G>A	uc002icq.3	-	9	3186	c.2954C>T	c.(2953-2955)cCc>cTc	p.P985L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P914L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P938L|BRCA1_uc002ict.3_Missense_Mutation_p.P985L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P985L|BRCA1_uc002ide.1_Missense_Mutation_p.P816L|BRCA1_uc010cyy.1_Missense_Mutation_p.P985L|BRCA1_uc010whs.1_Missense_Mutation_p.P985L|BRCA1_uc010cyz.2_Missense_Mutation_p.P938L|BRCA1_uc010cza.2_Missense_Mutation_p.P959L|BRCA1_uc010wht.1_Missense_Mutation_p.P689L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	985					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGACTTGATGGGAAAAAGTGG	0.353000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				64			31		0	0	0.00178596	0	0
SLC6A3	6531	broad.mit.edu	37	5	1421994	1421994	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:1421994C>T	uc003jck.3	-	4	915	c.789G>A	c.(787-789)ggG>ggA	p.G263G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	263					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCTCACCTTCCCTGAGGTCT	0.637000														47			24		0	0	0.001512	0	0
DOCK10	55619	broad.mit.edu	37	2	225657702	225657702	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:225657702G>A	uc010fwz.1	-	46	5539	c.5300C>T	c.(5299-5301)cCc>cTc	p.P1767L	DOCK10_uc002vob.2_Missense_Mutation_p.P1761L|DOCK10_uc002voa.2_Missense_Mutation_p.P423L|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1767	DHR-2.						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)		TCCTCCACTGGGAGTTGTTAG	0.438000														72			68		0	0	0.000781405	0	0
SYNE2	23224	broad.mit.edu	37	14	64681167	64681167	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:64681167C>T	uc001xgl.3	+	105	19542	c.19312C>T	c.(19312-19314)Cca>Tca	p.P6438S	SYNE2_uc001xgm.3_Missense_Mutation_p.P6438S|SYNE2_uc010apy.3_Missense_Mutation_p.P2823S|SYNE2_uc001xgn.3_Missense_Mutation_p.P1400S|SYNE2_uc021rui.1_Missense_Mutation_p.P1425S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.P408S|SYNE2_uc001xgq.3_Missense_Mutation_p.P803S|SYNE2_uc001xgr.3_Missense_Mutation_p.P221S|SYNE2_uc010tsi.2_Missense_Mutation_p.P72S|SYNE2_uc001xgs.3_Missense_Mutation_p.P72S|SYNE2_uc001xgt.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6438					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGAGGAGGGCCCATACTACAG	0.612000														18			9		0	0	0.000274275	0	0
A4GALT	53947	broad.mit.edu	37	22	43089715	43089715	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:43089715G>A	uc003bdb.3	-	2	504	c.243C>T	c.(241-243)ttC>ttT	p.F81F	A4GALT_uc021wqo.1_Silent_p.F81F|A4GALT_uc021wqp.1_Silent_p.F81F|A4GALT_uc010gzd.3_Silent_p.F81F|A4GALT_uc021wqq.1_Silent_p.F81F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	81					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AAGTCTCCAGGAAGAAGATGT	0.612000														25			16		0	0	0.000566183	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591907	100591907	+	Silent	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:100591907T>C	uc002bvv.1	-	16	2404	c.2325A>G	c.(2323-2325)ggA>ggG	p.G775G		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	775	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CATAATGAATTCCATAATCTT	0.463000														377			47		0	0	0.000781405	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060258	35060258	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:35060258C>T	uc002xff.3	+	2	573	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DLGAP4_uc010zvp.2_Silent_p.F46F	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	46					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGCCCGCTTCCCCGGGCAGA	0.677000														15			13		0	0	0.00136819	0	0
LAMA3	3909	broad.mit.edu	37	18	21512189	21512189	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:21512189C>T	uc002kuq.3	+	65	8728	c.8642C>T	c.(8641-8643)tCc>tTc	p.S2881F	LAMA3_uc002kur.3_Missense_Mutation_p.S2825F|LAMA3_uc002kus.4_Missense_Mutation_p.S1272F|LAMA3_uc002kut.4_Missense_Mutation_p.S1216F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2881	Laminin G-like 3.				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)	ATTTCAAGTTCCCGGCAGTCT	0.458000														78			50		0	0	0.000781405	0	0
ZFP57	346171	broad.mit.edu	37	6	29640402	29640402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29640402C>T	uc011dlw.2	-	3	1637	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	412					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGCTTCCATTCCTCCCCAGCC	0.557000														60			18		0	0	0.00074312	0	0
NRG3	10718	broad.mit.edu	37	10	84738862	84738862	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:84738862G>A	uc021pvc.1	+	7	1596	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	NRG3_uc010qlz.1_Silent_p.T522T|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.T523T|NRG3_uc001kcp.2_Silent_p.T302T|NRG3_uc001kcq.2_Silent_p.T173T|NRG3_uc021pvd.1_Silent_p.T302T|NRG3_uc021pve.1_Silent_p.T327T|NRG3_uc021pvf.1_Silent_p.T173T|NRG3_uc021pvg.1_Silent_p.T327T|NRG3_uc021pvh.1_Silent_p.T111T|NRG3_uc021pvi.1_Silent_p.T353T|NRG3_uc021pvk.1_Silent_p.T39T|NRG3_uc001kcr.2_Silent_p.T173T|NRG3_uc021pvl.1_Silent_p.T173T	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	523					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAGGATACGATACCTTGCC	0.468000														25			19		0	0	0.000295444	0	0
SALL4	57167	broad.mit.edu	37	20	50407595	50407595	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:50407595G>A	uc002xwh.4	-	1	1528	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	476					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAAGGACAGGTTTGCTGTC	0.557000														41			35		0	0	0.000692331	0	0
CNTN5	53942	broad.mit.edu	37	11	99715598	99715598	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:99715598G>A	uc001pga.3	+	4	796	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	CNTN5_uc009ywv.2_Missense_Mutation_p.G98R|CNTN5_uc001pfz.3_Missense_Mutation_p.G98R|CNTN5_uc021qpb.1_Missense_Mutation_p.G98R|CNTN5_uc021qpc.1_Missense_Mutation_p.G24R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	98					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTGGACTATGGGCCAGTTTT	0.333000														69			52		0	0	0.000781405	0	0
OR10V1	390201	broad.mit.edu	37	11	59480799	59480799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59480799C>T	uc001nof.1	-	0	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGGTAGATCTCATCATTGTGG	0.507000														33			20		0	0	0.000295444	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781789	128781789	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:128781789C>T	uc001qet.3	+	1	935	c.621C>T	c.(619-621)gtC>gtT	p.V207V	KCNJ5_uc009zck.3_Silent_p.V207V|KCNJ5_uc001qew.3_Silent_p.V207V	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	207					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACAACGCAGTCATCTCCATGC	0.577000														30			24		0	0	0.000586117	0	0
MYLK3	91807	broad.mit.edu	37	16	46766146	46766146	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:46766146C>T	uc002eei.4	-	3	1552	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	MYLK3_uc010vge.2_Missense_Mutation_p.G138D|MYLK3_uc002eej.1_Missense_Mutation_p.G138D	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	479					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCCTCGGCGCCTGGGGGCAT	0.657000														2			10		0	0	0.000673444	0	0
MATK	4145	broad.mit.edu	37	19	3779419	3779420	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:3779419_3779420CC>TT	uc002lyt.3	-	10	1357_1358	c.957_958GG>AA	c.(955-960)cggggt>cgAAgt	p.G320S	MATK_uc002lyv.3_Missense_Mutation_p.G321S|MATK_uc002lyu.3_Missense_Mutation_p.G279S|MATK_uc010dtq.3_Missense_Mutation_p.G320S|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	320	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R319W(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCTCGACCCCGGGTCCGCA	0.673000														18			11		0	0	6.4e-05	0	0
TRIM27	5987	broad.mit.edu	37	6	28876588	28876588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:28876588G>A	uc003nlr.3	-	5	1275	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	TRIM27_uc003nls.3_Nonsense_Mutation_p.Q306*|TRIM27_uc003nlt.1_Nonsense_Mutation_p.Q306*	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	306	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AATTTACCTTGGATTTTCTCC	0.373000			T	RET	papillary thyroid									22			48		0	0	0.000781405	0	0
RP1L1	94137	broad.mit.edu	37	8	10470663	10470663	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:10470663C>T	uc003wtc.3	-	3	1174	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	315					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGTCCTCATTCATGCGGACCT	0.672000														64			38		0	0	0.000814825	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:167656143C>T	uc011cjq.1	-	9	1324	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E294K|SPOCK3_uc003iri.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E363K|SPOCK3_uc003irj.1_Missense_Mutation_p.E411K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E322K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E371K|SPOCK3_uc011cju.1_Missense_Mutation_p.E318K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E316K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D423N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000														24			23		0	0	0.000229342	0	0
KLHL26	55295	broad.mit.edu	37	19	18778511	18778511	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:18778511G>A	uc002njz.1	+	2	331	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	102	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCAAGCCAGGACGTCATCGA	0.642000														34			29		0	0	0.00058488	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785771	28785771	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:28785771T>G	uc001bpy.3	+	2	455	c.220_splice	c.e2+2	p.V74_splice	PHACTR4_uc001bpu.3_Splice_Site_p.V64_splice|PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpw.3_Splice_Site_p.V64_splice|PHACTR4_uc001bpx.3_Splice_Site_p.V48_splice	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	64							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCAGAAGGTGAGATATTAA	0.348000														46			25		0	0	0.00047179	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198935	91198935	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:91198935C>A	uc001kgm.3	-	5	755	c.454G>T	c.(454-456)Gga>Tga	p.G152*	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	122						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTGCAAATCCAAGACCTGAG	0.418000														43			5		8.12818e-05	0.000609336	8.12818e-05	1	0
GPR112	139378	broad.mit.edu	37	X	135439873	135439873	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:135439873G>A	uc004ezu.1	+	9	7229	c.6938G>A	c.(6937-6939)aGa>aAa	p.R2313K	GPR112_uc010nsb.1_Missense_Mutation_p.R2108K|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGAACAGAGAGAAGGACAA	0.333000														21			79		0	0	0.000781405	0	0
FH	2271	broad.mit.edu	37	1	241680603	241680603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:241680603G>A	uc001hyx.3	-	1	209	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	49					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TATCCGGAAGGAATTTTGGCT	0.378000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					83			12		0	0	0.00136819	0	0
CD22	933	broad.mit.edu	37	19	35827142	35827142	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:35827142T>C	uc010edt.3	+	3	700	c.616T>C	c.(616-618)Ttc>Ctc	p.F206L	CD22_uc010edu.3_Missense_Mutation_p.F206L|CD22_uc010edv.3_Missense_Mutation_p.F206L|CD22_uc002nzb.4_Missense_Mutation_p.F206L|CD22_uc010xst.2_Missense_Mutation_p.F34L|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	206	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGAGCTCAAGTTCTCCCCACA	0.557000														23			12		0	0	0.000978159	0	0
TRPM2	7226	broad.mit.edu	37	21	45860701	45860701	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:45860701G>A	uc010gpt.1	+	31	4549	c.4449G>A	c.(4447-4449)agG>agA	p.R1483R	TRPM2_uc002zet.1_Silent_p.R1433R|TRPM2_uc002zeu.1_Silent_p.R1433R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R1433R|TRPM2_uc002zex.1_Silent_p.R1219R|TRPM2_uc002zey.1_Silent_p.R912R|TRPM2_uc011aff.1_Silent_p.R114R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1433	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGACCCGAGGAACACGGACA	0.627000														43			27		0	0	0.001512	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634760	83634760	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:83634760G>A	uc003uhz.3	-	10	1570	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	419	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTATTGGGCGATTGTTCATA	0.388000														47			30		0	0	0.00178596	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482817	152482817	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:152482817G>A	uc022chs.1	-	0	194	c.194C>T	c.(193-195)cCc>cTc	p.P65L	MAGEA1_uc004fhf.2_Missense_Mutation_p.P65L	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	65						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGTAGTGGGAAAGGCGGA	0.607000														5			49		0	0	0.000781405	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17950950	17950950	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:17950950C>T	uc001ban.3	+	12	1428	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	ARHGEF10L_uc009vpe.1_Silent_p.I384I|ARHGEF10L_uc001bao.3_Silent_p.I384I|ARHGEF10L_uc001bap.3_Silent_p.I384I|ARHGEF10L_uc010ocr.1_Silent_p.I181I|ARHGEF10L_uc001baq.3_Silent_p.I189I|ARHGEF10L_uc010ocs.2_Silent_p.I201I|ARHGEF10L_uc001bar.3_Intron|ARHGEF10L_uc009vpf.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	423	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCATGTCCATCATCAAGAAGG	0.562000														57			36		0	0	0.000491102	0	0
TBC1D8	11138	broad.mit.edu	37	2	101644812	101644812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:101644812G>A	uc010fiv.3	-	12	2391	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S	TBC1D8_uc002tau.4_Missense_Mutation_p.P511S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	754					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACAGGGTAGGGCTCCTGGTCG	0.592000														14			17		0	0	0.00074312	0	0
OR1N2	138882	broad.mit.edu	37	9	125315727	125315727	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125315727C>T	uc011lyx.2	+	0	279	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTTCTGCCTCCATCCCCA	0.483000														96			68		0	0	0.000781405	0	0
ART4	420	broad.mit.edu	37	12	14982347	14982347	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:14982347G>A	uc001rcl.1	-	2	1269	c.903C>T	c.(901-903)tcC>tcT	p.S301S	ART4_uc009zid.1_Non-coding_Transcript|ART4_uc009zie.1_Non-coding_Transcript	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	301					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGGTCAAAAAGGAGAGAGATG	0.294000														37			18		0	0	0.000375601	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450538	107450538	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:107450538C>T	uc002tdq.3	-	2	1127	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G	ST6GAL2_uc002tdr.3_Silent_p.G336G|ST6GAL2_uc002tds.3_Silent_p.G336G	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	336					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGTTTTATTCCCAACATCTT	0.383000														97			48		0	0	0.000781405	0	0
PKD1L1	168507	broad.mit.edu	37	7	47854965	47854965	+	Silent	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:47854965T>A	uc003tny.2	-	46	7090	c.7056A>T	c.(7054-7056)ggA>ggT	p.G2352G	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Silent_p.G79G	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2352					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACGGGGTGCCTCCCGGGTACA	0.552000														32			13		0	0	0.000219431	0	0
WNT9B	7484	broad.mit.edu	37	17	44952677	44952677	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:44952677G>A	uc002ikw.1	+	2	582	c.545G>A	c.(544-546)gGa>gAa	p.G182E	WNT9B_uc002ikx.1_Missense_Mutation_p.G182E	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	182					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCCAAGAGAGGAAACAAGGAC	0.637000														21			6		0	0	0.000157383	0	0
FLG	2312	broad.mit.edu	37	1	152275460	152275460	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:152275460C>T	uc001ezu.1	-	2	11938	c.11902G>A	c.(11902-11904)Ggt>Agt	p.G3968S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3968					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGACCTTTTTGCCTT	0.428000									Ichthyosis					144			34		0	0	0.00111076	0	0
BCHE	590	broad.mit.edu	37	3	165504094	165504094	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:165504094G>A	uc003fem.4	-	2	1683	c.1523C>T	c.(1522-1524)cCa>cTa	p.P508L	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	508					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AGTCTCATTTGGATTCCTAAA	0.299000														27			10		0	0	0.000978159	0	0
FAM160B2	64760	broad.mit.edu	37	8	21959320	21959320	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:21959320C>T	uc011kyx.2	+	13	1860	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	603										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGGGCCACTTCCTCCGAGTGC	0.642000														12			9		0	0	0.000274275	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350614	135350614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:135350614C>T	uc001lnj.1	+	6	1048	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	CYP2E1_uc001lnk.1_Missense_Mutation_p.P202S|CYP2E1_uc009ybl.1_Missense_Mutation_p.P140S|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.P140S	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	339					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AAGCCGAATCCCTGCCATCAA	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					21			18		0	0	0.00152264	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283210	69283210	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:69283210C>T	uc004dxu.1	+	0	870	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	279										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGGCCGGCGCCGCCGGGGGC	0.657000														1			5		0	0	0.00116845	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397368	51397368	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:51397368C>T	uc001zyy.3	-	0	106	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	2										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GCCGTGGTTTCCCCATTTGGA	0.517000														33			22		0	0	0.000375601	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553534	140553534	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140553534G>A	uc003lit.3	+	0	1292	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTAGAGACAGAGATTCCGGG	0.473000														28			13		0	0	0.000422831	0	0
SNTG1	54212	broad.mit.edu	37	8	51362269	51362269	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:51362269C>T	uc010lxy.1	+	6	632	c.261C>T	c.(259-261)atC>atT	p.I87I	SNTG1_uc003xqs.1_Silent_p.I87I|SNTG1_uc010lxz.1_Silent_p.I87I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	87	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTCAAAAATCTCCAAGGAAC	0.318000														21			47		0	0	0.000781405	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060251	35060251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:35060251C>T	uc002xff.3	+	2	566	c.131C>T	c.(130-132)gCc>gTc	p.A44V	DLGAP4_uc010zvp.2_Missense_Mutation_p.A44V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	44					cell-cell signaling	membrane	protein binding	p.E43K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCGCGAGGCCCGCTTCCCC	0.677000														16			12		0	0	0.000151284	0	0
SCAND3	114821	broad.mit.edu	37	6	28554272	28554272	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:28554272C>T	uc003nlo.3	-	0	841	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	75	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGGCAAAGTTCCCGCAGTTGA	0.542000														57			21		0	0	0.00152264	0	0
LTBP1	4052	broad.mit.edu	37	2	33412139	33412139	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:33412139G>A	uc021vft.1	+	5	1441	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	LTBP1_uc002rou.3_Missense_Mutation_p.G147E|LTBP1_uc002rov.3_Missense_Mutation_p.G147E|LTBP1_uc010ymz.2_Missense_Mutation_p.G147E|LTBP1_uc010yna.2_Missense_Mutation_p.G147E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	473					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCAGCAAGGAGTCAAAGGT	0.522000														30			11		0	0	0.000673444	0	0
TGM4	7047	broad.mit.edu	37	3	44943190	44943190	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:44943190G>A	uc003coc.4	+	7	905	c.832_splice	c.e7+1	p.V278_splice	TGM4_uc003cob.2_Splice_Site	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	278					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCTGACTACAGGTAAGTGGCA	0.597000														29			9		0	0	0.000673444	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43824181	43824181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:43824181C>T	uc010skx.2	-	22	3355	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E273K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E273K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1119	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGACTAGCTTCATGGCATTCT	0.388000														25			20		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179546404	179546404	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179546404C>T	uc021vsy.1	-	132	29649	c.29424G>A	c.(29422-29424)aaG>aaA	p.K9808K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6469K|TTN_uc010fre.1_Silent_p.K655K|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10735	Ig-like 79.						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)			CCGGTGGGGCCTTTGGTTTTG	0.388000														73			55		0	0	0.000781405	0	0
PARM1	25849	broad.mit.edu	37	4	75937961	75937961	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:75937961G>A	uc003hih.2	+	1	623	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	124					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACGTTGGAGGAACACAGCTC	0.587000														42			26		0	0	0.000586117	0	0
POLR2B	5431	broad.mit.edu	37	4	57860646	57860646	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:57860646C>T	uc003hcl.1	+	3	363	c.320C>T	c.(319-321)cCa>cTa	p.P107L	POLR2B_uc011cae.1_Missense_Mutation_p.P100L|POLR2B_uc011caf.1_Missense_Mutation_p.P32L	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	107					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)					GCTCCTTCACCAATGATGCCC	0.338000														18			17		0	0	0.00121646	0	0
DNAH9	1770	broad.mit.edu	37	17	11659888	11659888	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:11659888C>T	uc002gne.3	+	33	6810	c.6742C>T	c.(6742-6744)Ctg>Ttg	p.L2248L	DNAH9_uc010coo.3_Silent_p.L1542L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2248	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCAGGTGCTGACATTGGC	0.542000														64			60		0	0	0.000781405	0	0
KIRREL3	84623	broad.mit.edu	37	11	126396485	126396485	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:126396485G>A	uc001qea.3	-	2	592	c.231C>T	c.(229-231)ttC>ttT	p.F77F	KIRREL3_uc001qeb.3_Silent_p.F77F|KIRREL3_uc001qec.1_Silent_p.F77F	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	77	Ig-like C2-type 1.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCACAGAACGAAGCCATCGT	0.612000														4			10		0	0	0.000673444	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908385	131908385	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:131908385C>T	uc003vra.4	-	8	2227	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	666	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGGACTCTCCACGCAGGACA	0.577000														12			9		0	0	0.000274275	0	0
IFT140	9742	broad.mit.edu	37	16	1573573	1573573	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:1573573G>A	uc002cmb.3	-	25	3761	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	IFT140_uc002clz.3_Silent_p.F746F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1133										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGCTCGATGAAGAAGTCGG	0.652000														15			19		0	0	0.000375601	0	0
TCF20	6942	broad.mit.edu	37	22	42606603	42606603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:42606603G>A	uc003bcj.1	-	0	4843	c.4709C>T	c.(4708-4710)tCt>tTt	p.S1570F	TCF20_uc003bck.1_Missense_Mutation_p.S1570F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCATCTGCAGAACCTTCTGG	0.542000														62			40		0	0	0.00148497	0	0
MATN4	8785	broad.mit.edu	37	20	43927082	43927082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:43927082C>T	uc002xnn.2	-	6	1341	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	MATN4_uc002xnp.2_Missense_Mutation_p.G303E|MATN4_uc002xno.2_Missense_Mutation_p.G344E|MATN4_uc010zwr.1_Missense_Mutation_p.G333E|MATN4_uc002xnr.1_Missense_Mutation_p.G385E	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	426						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCACCAGCCCCACCCGCGT	0.637000														20			15		0	0	0.000308642	0	0
OR2H1	26716	broad.mit.edu	37	6	29430333	29430333	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29430333C>T	uc003nmi.3	+	2	1230	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	OR2H1_uc003nmj.1_Missense_Mutation_p.P263S|OR2H1_uc010jri.2_Missense_Mutation_p.P185S|OR2H1_uc021ytr.1_Missense_Mutation_p.P263S	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCCCAAAAATCCGTATGCCCA	0.517000														97			17		0	0	0.000958276	0	0
SCN1A	6323	broad.mit.edu	37	2	166900412	166900412	+	Missense_Mutation	SNP	G	A	A	rs148371904		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:166900412G>A	uc002udo.4	-	12	2037	c.1810C>T	c.(1810-1812)Cgt>Tgt	p.R604C	SCN1A_uc010fpk.3_Missense_Mutation_p.R604C|SCN1A_uc021vsb.1_Missense_Mutation_p.R604C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	604			R -> H (in SMEI; uncertain pathological significance; dbSNP:rs121918769).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAATCTCTACGGCTCTCGTTA	0.532000														26			23		0	0	0.000229342	0	0
KCNH5	27133	broad.mit.edu	37	14	63174288	63174288	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:63174288C>T	uc001xfx.3	-	10	2956	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	969					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.D969N(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTAAAAATATCCTGACATGGT	0.368000														133			73		0	0	0.000781405	0	0
DCDC1	341019	broad.mit.edu	37	11	31329440	31329440	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:31329440G>A	uc001msv.3	-	3	418	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	60					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTTTGCCTGGGATGACATAA	0.373000														49			33		0	0	0.00058488	0	0
PDGFRA	5156	broad.mit.edu	37	4	54294256	54294256	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:54294256C>T	uc003gzy.3	+	12	1266	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Silent_p.F345F|PDGFRA_uc011bzt.1_Silent_p.F324F|PDGFRA_uc011bzu.2_Silent_p.F345F|PDGFRA_uc003gzz.3_Silent_p.F286F|PDGFRA_uc003hab.3_Silent_p.F325F|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_5'UTR	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCCGTTTTTCCCTCCAGGAG	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				18			14		0	0	0.000219431	0	0
CSMD2	114784	broad.mit.edu	37	1	34049275	34049275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:34049275C>T	uc001bxm.1	-	46	7384	c.7207G>A	c.(7207-7209)Gag>Aag	p.E2403K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2405K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2405	CUB 14.					integral to membrane|plasma membrane	protein binding	p.L2403L(1)|p.E2405*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATTGCTTCTCGCTGAGGAAG	0.502000														75			42		0	0	0.000781405	0	0
OR51B2	79345	broad.mit.edu	37	11	5345000	5345000	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5345000G>A	uc001mao.1	-	0	583	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGAGGCAGAAAGCACGTG	0.388000														37			28		0	0	0.00178596	0	0
ZNF446	55663	broad.mit.edu	37	19	58988593	58988593	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:58988593C>T	uc002qsz.3	+	1	125	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ZNF446_uc002qta.3_Missense_Mutation_p.S3F|ZNF446_uc010eur.3_Missense_Mutation_p.S3F	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	3					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2P(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGAATGCCATCCCCTCTGGGT	0.602000														82			49		0	0	0.000781405	0	0
KIAA0141	9812	broad.mit.edu	37	5	141307820	141307820	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:141307820C>T	uc003lls.3	+	3	491	c.369C>T	c.(367-369)ccC>ccT	p.P123P	KIAA0141_uc003llt.3_Silent_p.P123P	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	123					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACAGTCCCCTGGACCGTT	0.632000														26			21		0	0	0.000229342	0	0
INPP5D	3635	broad.mit.edu	37	2	234085942	234085942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:234085942G>A	uc010zmo.2	+	16	2087	c.1934G>A	c.(1933-1935)cGa>cAa	p.R645Q	INPP5D_uc010zmp.2_Missense_Mutation_p.R644Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	674					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGGTGTGACCGAGTCCTCTGG	0.418000														66			31		0	0	0.00128727	0	0
LRBA	987	broad.mit.edu	37	4	151388899	151388899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:151388899G>A	uc010ipj.3	-	44	6983	c.6739C>T	c.(6739-6741)Cct>Tct	p.P2247S	LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.P137S|LRBA_uc003ilt.4_Missense_Mutation_p.P895S|LRBA_uc003ilu.4_Missense_Mutation_p.P2236S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2247	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATGACCCAAGGAAACACTGGA	0.333000														61			37		0	0	0.000509022	0	0
SLIT2	9353	broad.mit.edu	37	4	20541135	20541135	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:20541135T>A	uc003gpr.1	+	18	2108	c.1904T>A	c.(1903-1905)cTt>cAt	p.L635H	SLIT2_uc003gps.1_Missense_Mutation_p.L627H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	635					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						GTGCGTTTGCTTTCTTTGTAT	0.383000														35			35		0	0	0.00111076	0	0
OR7C2	26658	broad.mit.edu	37	19	15053093	15053093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:15053093C>T	uc010xoc.2	+	0	793	c.793C>T	c.(793-795)Cca>Tca	p.P265S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGCAGTTACACCACCTTCTAG	0.542000														42			24		0	0	0.000878237	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:53237304C>T	uc001cuj.3	+	2	1004	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.S261F	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	270							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393000														30			23		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9050137	9050137	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9050137G>A	uc002mkp.3	-	4	31698	c.31494C>T	c.(31492-31494)gtC>gtT	p.V10498V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10500	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAGTATAGACACTGGTGG	0.502000														134			122		0	0	0.000781405	0	0
OR5W2	390148	broad.mit.edu	37	11	55681147	55681147	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:55681147C>T	uc010rir.2	-	0	912	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ttttatttttCAGTTTTTTCA	0.303000														12			12		0	0	0.00136819	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310540	94310540	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:94310540C>T	uc001pfa.3	+	3	606	c.395C>T	c.(394-396)cCa>cTa	p.P132L	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	132					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATATATTCCAGATTTAGCA	0.398000														38			20		0	0	0.00121646	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:161113261G>A	uc003lyu.2	+	1	402	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)				46			37		0	0	0.000814825	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764870	92764870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:92764870C>T	uc003umh.1	-	4	1631	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SAMD9L_uc003umj.1_Missense_Mutation_p.E139K|SAMD9L_uc003umi.1_Missense_Mutation_p.E139K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E139K|SAMD9L_uc003umk.1_Missense_Mutation_p.E139K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E139K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E139K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E139K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	139										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACACATTTTCTTTCATAAGA	0.323000														41			33		0	0	0.000409698	0	0
TSPO2	222642	broad.mit.edu	37	6	41011867	41011867	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:41011867G>A	uc003opj.3	+	3	805	c.504G>A	c.(502-504)aaG>aaA	p.K168K	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Missense_Mutation_p.E131K|TSPO2_uc011dub.2_Silent_p.K168K	NM_001010873	NP_001153198	Q5TGU0	TSPO2_HUMAN	Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA.	168					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCACGGAGAAGAGTGACTGAG	0.627000														42			8		0	0	0.000442599	0	0
NOS2	4843	broad.mit.edu	37	17	26092669	26092669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:26092669C>T	uc002gzu.3	-	19	2584	c.2320G>A	c.(2320-2322)Ggg>Agg	p.G774R		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	774	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGCAAACCCCAAGGTGCTCC	0.642000														27			13		0	0	0.000219431	0	0
PTGS1	5742	broad.mit.edu	37	9	125145866	125145866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125145866C>T	uc004bmg.1	+	7	976	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	PTGS1_uc011lys.1_Nonsense_Mutation_p.Q256*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.Q172*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.Q281*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.Q172*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.Q172*	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	281					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CATCCCGCCCCAGAGCCAGAT	0.627000														15			11		0	0	0.00136819	0	0
SERINC2	347735	broad.mit.edu	37	1	31902327	31902327	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:31902327T>G	uc021okm.1	+	8	1255	c.982T>G	c.(982-984)Tgg>Ggg	p.W328G	SERINC2_uc010ogg.2_Missense_Mutation_p.W323G|SERINC2_uc001bst.3_Missense_Mutation_p.W319G|SERINC2_uc001bsu.3_Missense_Mutation_p.W264G|SERINC2_uc010ogh.2_Missense_Mutation_p.W323G	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	319						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GACCCAGTGGTGGGATGCCCC	0.572000														26			15		0	0	0.000308642	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180651	142180651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:142180651C>T	uc011krz.2	-	1	257	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.G70S|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATACCAGCACCAACTGAGTAA	0.532000														124			52		0	0	0.000781405	0	0
NOL4	8715	broad.mit.edu	37	18	31599311	31599311	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31599311C>T	uc010dmi.3	-	5	1325	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	NOL4_uc010xbs.2_Missense_Mutation_p.E58K|NOL4_uc002kxr.4_Missense_Mutation_p.E179K|NOL4_uc010xbt.2_Missense_Mutation_p.E269K|NOL4_uc010dmh.3_Missense_Mutation_p.E269K|NOL4_uc010xbu.2_Missense_Mutation_p.E343K|NOL4_uc002kxt.4_Missense_Mutation_p.E343K|NOL4_uc010xbv.1_Missense_Mutation_p.E92K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	343						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCTCTCGTTCCATCTTGAGG	0.378000														40			15		0	0	0.000566183	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275548	233275548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:233275548C>T	uc001hvl.2	-	19	3806	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1191						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGTATTTTTCAAAACACTGA	0.368000														18			37		0	0	0.00148497	0	0
BICC1	80114	broad.mit.edu	37	10	60559999	60559999	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60559999G>A	uc001jki.1	+	12	1771	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	BICC1_uc001jkj.1_Missense_Mutation_p.E232K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	591					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATCACTTGGAGAAAAAGTGCT	0.403000														30			14		0	0	0.00121646	0	0
ZNF343	79175	broad.mit.edu	37	20	2463916	2463916	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:2463916A>T	uc002wge.1	-	5	2179	c.1691T>A	c.(1690-1692)cTc>cAc	p.L564H	ZNF343_uc010gao.1_Missense_Mutation_p.L564H|ZNF343_uc002wgd.1_Missense_Mutation_p.L474H	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L564F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGGACAAGGAGGAGTGATTT	0.507000														24			16		0	0	0.000566183	0	0
DAP3	7818	broad.mit.edu	37	1	155686885	155686885	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:155686885C>T	uc001flq.3	+	2	291	c.134C>T	c.(133-135)cCg>cTg	p.P45L	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Intron|DAP3_uc010pgm.2_Missense_Mutation_p.P45L|DAP3_uc001fls.3_Missense_Mutation_p.P45L|DAP3_uc001flr.3_Missense_Mutation_p.P45L	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	45					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTGAGAGTCCGAGAGCTATT	0.473000														128			34		0	0	0.00111076	0	0
CSMD1	64478	broad.mit.edu	37	8	3141781	3141781	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:3141781C>T	uc022aqr.1	-	25	4428	c.4038G>A	c.(4036-4038)aaG>aaA	p.K1346K	CSMD1_uc011kwj.2_Silent_p.K739K|CSMD1_uc003wqe.3_Silent_p.K503K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1347	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTCCACTCCTTCAGCAGGA	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			15		0	0	0.00074312	0	0
SNAP25	6616	broad.mit.edu	37	20	10279981	10279981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:10279981G>A	uc002wnq.2	+	6	685	c.473G>A	c.(472-474)gGg>gAg	p.G158E	SNAP25_uc002wnr.2_Missense_Mutation_p.G158E|SNAP25_uc002wns.2_Missense_Mutation_p.G95E|SNAP25_uc010gca.2_Missense_Mutation_p.G158E	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	158	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGCATCATCGGGAACCTCCGT	0.502000														36			36		0	0	0.00058488	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867749	45867749	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45867749G>A	uc010zxy.1	-	14	2521	c.2439C>T	c.(2437-2439)acC>acT	p.T813T	ZMYND8_uc010ghq.1_Silent_p.T463T|ZMYND8_uc010ghr.1_Silent_p.T761T|ZMYND8_uc002xst.1_Silent_p.T714T|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.T714T|ZMYND8_uc002xsw.1_Silent_p.T538T|ZMYND8_uc002xsx.1_Silent_p.T538T|ZMYND8_uc002xsy.1_Silent_p.T761T|ZMYND8_uc002xsz.1_Silent_p.T723T|ZMYND8_uc002xta.1_Silent_p.T786T|ZMYND8_uc002xtb.1_Silent_p.T806T|ZMYND8_uc002xss.2_Silent_p.T786T|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.T806T|ZMYND8_uc002xtd.1_Silent_p.T781T|ZMYND8_uc002xte.1_Silent_p.T786T|ZMYND8_uc010zya.1_Silent_p.T786T|ZMYND8_uc002xtf.1_Silent_p.T806T|ZMYND8_uc002xtg.3_Silent_p.T780T|ZMYND8_uc010ghs.2_Silent_p.T780T|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	786							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGCCGTGACGGTGACCGTGG	0.687000														57			53		0	0	0.000781405	0	0
AXDND1	126859	broad.mit.edu	37	1	179354411	179354411	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:179354411C>T	uc001gmo.3	+	8	1167	c.780C>T	c.(778-780)acC>acT	p.T260T	AXDND1_uc001gmn.2_Silent_p.T48T|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.T218T	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	260										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAACAGACCATTTACAACA	0.353000														77			23		0	0	0.000375601	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327224	150327224	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:150327224C>T	uc022apv.1	-	1	487	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	GIMAP6_uc003whn.3_Missense_Mutation_p.E3K|GIMAP6_uc003whm.3_Missense_Mutation_p.E3K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	3							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCTTCTTCCTCCATCTAC	0.428000														28			22		0	0	0.000229342	0	0
RBPJ	3516	broad.mit.edu	37	4	26417194	26417194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:26417194C>T	uc003grx.2	+	4	528	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	RBPJ_uc003gry.2_Nonsense_Mutation_p.Q83*|RBPJ_uc003grz.2_Nonsense_Mutation_p.Q98*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.Q98*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.Q84*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.Q85*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	98					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACAAGAGTCTCAACCGTGTGC	0.418000														106			65		0	0	0.000781405	0	0
KPRP	448834	broad.mit.edu	37	1	152732378	152732378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:152732378C>T	uc001fal.1	+	1	372	c.314C>T	c.(313-315)tCc>tTc	p.S105F	KPRP_uc021ozf.1_Missense_Mutation_p.S105F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	105	Gln-rich.					cytoplasm		p.S105P(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCAAACTTCCTCTGTTCAA	0.532000														284			77		0	0	0.000781405	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682216	46682216	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:46682216G>A	uc010jzf.3	-	4	720	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	PLA2G7_uc021zae.1_Missense_Mutation_p.H151Y|PLA2G7_uc011dwd.1_Missense_Mutation_p.H106Y|PLA2G7_uc011dwe.1_Missense_Mutation_p.H24Y	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	151					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CCAAGACCATGAGAAAAAACA	0.373000														145			53		0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121746901	121746901	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:121746901G>A	uc010flp.3	+	12	3441	c.3411G>A	c.(3409-3411)ctG>ctA	p.L1137L	GLI2_uc002tmq.1_Silent_p.L809L|GLI2_uc002tmr.1_Silent_p.L792L|GLI2_uc002tmt.4_Silent_p.L809L|GLI2_uc002tmu.4_Silent_p.L792L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1137					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCCTGAACAAAAATA	0.637000														17			12		0	0	0.000151284	0	0
ODF4	146852	broad.mit.edu	37	17	8243741	8243741	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:8243741C>T	uc002gle.1	+	0	554	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	124					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GCAACAGAATCCACACATCAG	0.537000														25			22		0	0	0.00047179	0	0
OR14I1	401994	broad.mit.edu	37	1	248844733	248844733	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:248844733C>T	uc001ieu.1	-	0	873	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCTCCTTATTCCTAAGACTAT	0.378000														111			18		0	0	0.00121646	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:16285560T>C	uc002gpx.3	+	1	477	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.P113P	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	113	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000														67			5		0	0	8.12818e-05	0	0
MYO1C	4641	broad.mit.edu	37	17	1381191	1381191	+	Silent	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:1381191C>A	uc002fsp.3	-	12	1696	c.1476G>T	c.(1474-1476)tcG>tcT	p.S492S	MYO1C_uc002fsn.3_Silent_p.S473S|MYO1C_uc002fso.3_Silent_p.S457S|MYO1C_uc010vqj.1_Silent_p.S457S|MYO1C_uc010vqk.1_Silent_p.S468S	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	492	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCACCAAAATCGAGATGATGC	0.572000														82			25		3.57733e-08	2.70021e-07	0.00178596	1	0
WDR70	55100	broad.mit.edu	37	5	37725129	37725129	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:37725129C>T	uc003jkv.3	+	15	1749	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	564										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGCATAAACCTGAACCTCCT	0.537000														36			19		0	0	0.00121646	0	0
CASP7	840	broad.mit.edu	37	10	115489090	115489090	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:115489090C>T	uc001lan.3	+	6	877	c.703C>T	c.(703-705)Cca>Tca	p.P235S	CASP7_uc001lam.3_Silent_p.A223A|CASP7_uc001lao.3_Missense_Mutation_p.P268S|CASP7_uc001lap.3_Missense_Mutation_p.P235S|CASP7_uc001laq.3_Missense_Mutation_p.P235S|CASP7_uc010qsa.2_Missense_Mutation_p.P320S|CASP7_uc010qsb.2_Missense_Mutation_p.P210S	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	235					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GTGGAGGAGCCCAGGAAGAGG	0.507000														85			36		0	0	0.000374591	0	0
BAI1	575	broad.mit.edu	37	8	143599604	143599604	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:143599604T>G	uc003ywm.3	+	18	3104	c.2921_splice	c.e18+2	p.R974_splice		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	974					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGTGTGGAGGTGGGTGCCGCC	0.647000														40			15		0	0	0.000229342	0	0
CRTC3	64784	broad.mit.edu	37	15	91172622	91172622	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:91172622C>T	uc002bpp.3	+	10	1230	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC3_uc002bpo.3_Missense_Mutation_p.S375F	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	375					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCATCTCTTTCCACCACAAAC	0.557000			T	MAML2	salivary gland mucoepidermoid									162			486		0	0	0.000781405	0	0
GPR115	221393	broad.mit.edu	37	6	47682334	47682334	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:47682334G>A	uc003oyz.1	+	6	1524	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	GPR115_uc003oza.1_Silent_p.L451L|GPR115_uc003ozb.1_Silent_p.L451L|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R507C(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTCCCTTCTGACTGCCAATG	0.463000														220			44		0	0	0.000374591	0	0
OR10A4	283297	broad.mit.edu	37	11	6897920	6897920	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6897920C>T	uc010rat.2	+	0	65	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTGTTCTCGTGAGCTTCT	0.433000														64			37		0	0	0.000437636	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192189	45192189	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45192189G>A	uc002xsf.2	-	12	1535	c.1495_splice	c.e12-1	p.A499_splice	SLC13A3_uc010ghn.2_Splice_Site_p.A468_splice|SLC13A3_uc010zxx.2_Splice_Site_p.A401_splice|SLC13A3_uc010zxw.2_Splice_Site_p.A449_splice|SLC13A3_uc002xsg.2_Splice_Site_p.A452_splice|SLC13A3_uc010gho.2_Splice_Site_p.A417_splice|SLC13A3_uc002xse.2_5'UTR|SLC13A3_uc010ghm.2_Splice_Site_p.A86_splice|SLC13A3_uc010zxv.2_Splice_Site_p.A84_splice	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	499						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAGGCGGATGGCCTGGGCCAG	0.607000														11			6		0	0	0.000157383	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395281	49395281	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49395281C>T	uc001jgi.3	-	16	2551	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	FRMPD2_uc001jgh.3_Missense_Mutation_p.M708I|FRMPD2_uc001jgj.3_Missense_Mutation_p.M709I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	740					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTCCCAGGTCATTGGCTTCT	0.592000														16			11		0	0	0.00136819	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698568	17698568	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:17698568T>C	uc002rcl.1	-	0	1139	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S	RAD51AP2_uc010exn.1_Missense_Mutation_p.N363S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	372										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAATTTGCATTTTCTAGTAT	0.373000														36			21		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179427302	179427302	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179427302C>T	uc021vsy.1	-	274	76078	c.75853G>A	c.(75853-75855)Gaa>Aaa	p.E25285K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18980K|TTN_uc021vta.1_Missense_Mutation_p.E18913K|TTN_uc021vtb.1_Missense_Mutation_p.E18788K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26212	Ig-like 124.						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)			TCTGTTGTTTCAGCTGGCAAA	0.418000														37			30		0	0	0.000953801	0	0
CDC27	996	broad.mit.edu	37	17	45199825	45199825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:45199825G>A	uc002ile.4	-	17	2522	c.2395C>T	c.(2395-2397)Caa>Taa	p.Q799*	CDC27_uc002ild.4_Nonsense_Mutation_p.Q793*|CDC27_uc002ilf.4_Nonsense_Mutation_p.Q792*|CDC27_uc010wkp.2_Nonsense_Mutation_p.Q732*|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	793					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGTTCTTCTTGGGTTATTGGC	0.338000														88			36		0	0	0.000374591	0	0
PROX1	5629	broad.mit.edu	37	1	214170203	214170203	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:214170203C>G	uc001hkh.3	+	1	597	c.325C>G	c.(325-327)Ccc>Gcc	p.P109A	PROX1_uc001hkg.1_Missense_Mutation_p.P109A	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	109					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGCACGGAGCCCAGTTTCCA	0.488000														39			107		0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10359187	10359187	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:10359187C>T	uc002gmn.3	-	17	2111	c.2000G>A	c.(1999-2001)aGg>aAg	p.R667K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	667	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGTGCTCCTCAAGTTGGT	0.418000														76			44		0	0	0.000781405	0	0
MOCS3	27304	broad.mit.edu	37	20	49576008	49576008	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:49576008G>A	uc002xvy.1	+	0	646	c.629G>A	c.(628-630)gGc>gAc	p.G210D	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	210					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCTTCGAGGGCCAAATCACA	0.622000														24			19		0	0	0.00121646	0	0
SCN1A	6323	broad.mit.edu	37	2	166848500	166848500	+	Missense_Mutation	SNP	C	T	T	rs121917950		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:166848500C>T	uc002udo.4	-	27	5512	c.5285G>A	c.(5284-5286)gGa>gAa	p.G1762E	SCN1A_uc010fpk.3_Missense_Mutation_p.G1734E|SCN1A_uc021vsb.1_Missense_Mutation_p.G1751E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1762			G -> E (in SMEI; dbSNP:rs121917950).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1762S(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGAAAATTCCAACAGATGG	0.448000														65			40		0	0	0.00128727	0	0
APBA1	320	broad.mit.edu	37	9	72064641	72064641	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:72064641G>A	uc004ahh.2	-	9	2316	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	680	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACGGTGGGGAGGATGGATC	0.488000														42			45		0	0	0.000781405	0	0
OR51M1	390059	broad.mit.edu	37	11	5411565	5411565	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5411565C>A	uc010qzc.2	+	0	959	c.937C>A	c.(937-939)Cgt>Agt	p.R313S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	313						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGATCCACCGTGCCATTAT	0.463000														10			5		0.000157383	0.00117582	0.000157383	1	0
MYLK	4638	broad.mit.edu	37	3	123385073	123385073	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:123385073C>T	uc003ego.3	-	21	4106	c.3824G>A	c.(3823-3825)cGa>cAa	p.R1275Q	MYLK_uc010hrr.3_5'Flank|MYLK_uc011bjv.2_Missense_Mutation_p.R75Q|MYLK_uc011bjw.2_Missense_Mutation_p.R1275Q|MYLK_uc003egp.3_Missense_Mutation_p.R1206Q|MYLK_uc003egq.3_Missense_Mutation_p.R1275Q|MYLK_uc003egr.3_Missense_Mutation_p.R1206Q|MYLK_uc003egs.3_Missense_Mutation_p.R1099Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1275	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.R1275Q(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GACCTGCTTTCGGAACTTCAT	0.562000														28			15		0	0	0.000566183	0	0
LILRB3	11025	broad.mit.edu	37	19	54803128	54803128	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:54803128G>A	uc002qfd.3	-	3	641	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGGGCCCACGGAGAAGATGG	0.572000														36			23		0	0	0.000720815	0	0
OR13C8	138802	broad.mit.edu	37	9	107332096	107332096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:107332096C>T	uc011lvo.2	+	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TAATTTCCATCTCTTACATAT	0.403000														55			42		0	0	0.00170553	0	0
ZFP30	22835	broad.mit.edu	37	19	38134229	38134230	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:38134229_38134230GG>TT	uc002ogv.1	-	4	687_688	c.171_172CC>AA	c.(169-174)acccta>acAAta	p.L58I	ZFP30_uc002ogw.1_Missense_Mutation_p.L58I|ZFP30_uc002ogx.1_Missense_Mutation_p.L58I|ZFP30_uc010xtt.1_Missense_Mutation_p.L57I	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTCCAATAGGGTGATCACAT	0.376000														170			10		0	0	6.4e-05	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455196	84455196	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:84455196G>A	uc001vlk.3	-	0	1333	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	149						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCCTGGAAGGCCCCCGGGT	0.473000														43			30		0	0	0.000339439	0	0
THBS1	7057	broad.mit.edu	37	15	39881267	39881267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:39881267C>T	uc001zkh.3	+	10	1932	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	THBS1_uc010bbi.3_Nonsense_Mutation_p.Q57*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	585	EGF-like 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AAATGGCATCCAGTGCACAGA	0.532000														67			35		0	0	0.00170553	0	0
VSX2	338917	broad.mit.edu	37	14	74711882	74711882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:74711882C>T	uc001xpq.3	+	2	560	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	157					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ATCTTTACCTCCTACCAGCTA	0.547000														15			9		0	0	0.000442599	0	0
DNMBP	23268	broad.mit.edu	37	10	101716647	101716647	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:101716647G>A	uc001kqj.2	-	3	676	c.584C>T	c.(583-585)cCa>cTa	p.P195L	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	195	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAACCTTCTGGAAAAATGCC	0.483000														47			21		0	0	0.000295444	0	0
VARS	7407	broad.mit.edu	37	6	31749490	31749490	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:31749490G>A	uc003nxe.3	-	19	2819	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	799					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCCAAAATGGATAAGGGGAA	0.617000														136			33		0	0	0.000491102	0	0
C15orf43	145645	broad.mit.edu	37	15	45258395	45258395	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:45258395G>A	uc001zuk.3	+	4	402	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	130								p.E130K(2)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GACCCTTAGGGAAAACAGTGA	0.318000														14			8		0	0	0.000978159	0	0
SYNGR4	23546	broad.mit.edu	37	19	48879392	48879392	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:48879392C>T	uc002piz.3	+	4	773	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	174						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		ATGCTCCAGTCCCTTACAAGC	0.597000														34			27		0	0	0.000692331	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606441	2606441	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:2606441G>A	uc001lwn.3	+	8	1141	c.1033_splice	c.e8-1	p.G345_splice	KCNQ1_uc009ydp.1_Splice_Site_p.G129_splice|KCNQ1_uc001lwo.3_Splice_Site_p.G218_splice	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	345			G -> E (in LQT1).|G -> R (in LQT1; familial sudden death).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCCTTCCCAGGGGATTCTTG	0.627000														93			42		0	0	0.000781405	0	0
SORL1	6653	broad.mit.edu	37	11	121500230	121500230	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:121500230G>A	uc001pxx.3	+	47	6732	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	SORL1_uc010rzp.1_Missense_Mutation_p.M1047I|SORL1_uc010rzq.1_Missense_Mutation_p.M816I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2201					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGCCCCTATGATAACTGGAT	0.423000														49			26		0	0	0.00178596	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181485	32181485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:32181485C>T	uc003obb.3	-	13	2439	c.2300G>A	c.(2299-2301)aGc>aAc	p.S767N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	767	EGF-like 20.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTAGTCAGTGCTGGTTTGGCA	0.567000														132			35		0	0	0.000692331	0	0
BARX2	8538	broad.mit.edu	37	11	129306656	129306656	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:129306656C>T	uc001qfc.4	+	1	248	c.198C>T	c.(196-198)tcC>tcT	p.S66S		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	66										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GCTCCCCTTCCCTGCGGGCAT	0.672000														74			51		0	0	0.000781405	0	0
BICC1	80114	broad.mit.edu	37	10	60558926	60558926	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60558926C>T	uc001jki.1	+	11	1639	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	BICC1_uc001jkj.1_Missense_Mutation_p.P188S	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	547					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATCTCCCCCTCCTGGCTTGAC	0.463000														17			13		0	0	0.00136819	0	0
ASXL3	80816	broad.mit.edu	37	18	31325550	31325550	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31325550T>C	uc010dmg.1	+	11	5793	c.5738T>C	c.(5737-5739)gTt>gCt	p.V1913A	ASXL3_uc002kxq.2_Missense_Mutation_p.V1620A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTATTTCATGTTGACAAGAAT	0.527000														59			35		0	0	0.000953801	0	0
DPYD	1806	broad.mit.edu	37	1	98165083	98165083	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:98165083G>A	uc001drv.3	-	5	641	c.504C>T	c.(502-504)atC>atT	p.I168I	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	168					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATCTGTGGGATACTCATTG	0.383000														84			47		0	0	0.000781405	0	0
EYA2	2139	broad.mit.edu	37	20	45702966	45702966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45702966C>T	uc002xsm.3	+	6	1027	c.653C>T	c.(652-654)tCa>tTa	p.S218L	EYA2_uc010ghp.3_Missense_Mutation_p.S218L|EYA2_uc002xsq.3_Missense_Mutation_p.S218L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	218					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGTTCCGAGTCACTTGCTGGT	0.592000														50			22		0	0	0.000720815	0	0
OR10J1	26476	broad.mit.edu	37	1	159410436	159410436	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:159410436C>T	uc010piv.2	+	0	925	c.888C>T	c.(886-888)aaC>aaT	p.N296N	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	296					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCCTACTGAACCCTGTGGTAT	0.512000														34			64		0	0	0.000781405	0	0
KIF19	124602	broad.mit.edu	37	17	72351328	72351328	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:72351328G>A	uc002jkm.4	+	19	3012	c.2874G>A	c.(2872-2874)ggG>ggA	p.G958G		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	958					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGCCCGGGGGACTCCTCAC	0.657000														28			11		0	0	0.00136819	0	0
CLIC5	53405	broad.mit.edu	37	6	45922904	45922904	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:45922904G>A	uc003oxv.3	-	1	724	c.618C>T	c.(616-618)gtC>gtT	p.V206V	CLIC5_uc003oxu.3_Silent_p.V47V|CLIC5_uc003oxx.3_Silent_p.V47V	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	206					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CATTGAACACGACTCCTTTCA	0.478000														103			22		0	0	0.000375601	0	0
GIF	2694	broad.mit.edu	37	11	59610595	59610595	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59610595G>A	uc001noi.3	-	2	324	c.276C>T	c.(274-276)ctC>ctT	p.L92L	GIF_uc010rkz.1_Silent_p.L92L	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	92					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGGTGAGGCCGAGCTGCCCAA	0.527000														28			14		0	0	0.000422831	0	0
HTR1E	3354	broad.mit.edu	37	6	87725904	87725904	+	Silent	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:87725904C>A	uc003pli.3	+	1	1555	c.852C>A	c.(850-852)acC>acA	p.T284T	HTR1E_uc021zcg.1_Silent_p.T284T	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	284					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCTAGCACCAGGGAACGGA	0.507000														59			38		6.5261e-18	4.94296e-17	0.000374591	1	0
FGF14	2259	broad.mit.edu	37	13	102521126	102521126	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:102521126C>T	uc001vpf.2	-	2	468	c.372G>A	c.(370-372)gtG>gtA	p.V124V	FGF14_uc001vpe.2_Silent_p.V119V	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	119					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.G123*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCCTGTTTTCACTCCCTGGA	0.448000														54			31		0	0	0.000692331	0	0
SLC26A1	10861	broad.mit.edu	37	4	982735	982735	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:982735C>T	uc003gcb.3	-	3	2370	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Silent_p.G664G	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	664	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGGGCCCTCCCCGAGGAAGC	0.682000														2			5		0	0	0.000602214	0	0
GPM6A	2823	broad.mit.edu	37	4	176594896	176594896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:176594896C>T	uc003iuf.3	-	2	1126	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	GPM6A_uc011ckj.2_Missense_Mutation_p.G101R|GPM6A_uc003iug.3_Missense_Mutation_p.G108R|GPM6A_uc003iuh.3_Missense_Mutation_p.G97R	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	108						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTGATGGCCCCAGTTGTGAAG	0.433000														26			9		0	0	0.000442599	0	0
TBC1D9	23158	broad.mit.edu	37	4	141545347	141545347	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:141545347G>A	uc010ioj.3	-	19	3273	c.3001C>T	c.(3001-3003)Cgt>Tgt	p.R1001C		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1001						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAATAATTACGATTTTCTTGG	0.348000														21			10		0	0	0.000151284	0	0
SYTL5	94122	broad.mit.edu	37	X	37893255	37893255	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:37893255G>A	uc004ddx.3	+	0	469	c.113G>A	c.(112-114)aGa>aAa	p.R38K	SYTL5_uc004ddu.3_Missense_Mutation_p.R38K|SYTL5_uc004ddv.3_Missense_Mutation_p.R38K	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	38	RabBD.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAGGACAAGAGAATAAGGTAG	0.363000														3			17		0	0	0.000958276	0	0
OR4L1	122742	broad.mit.edu	37	14	20528960	20528960	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20528960C>T	uc001vwn.1	+	0	757	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G252V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTTCTTTGGACCTTGTATTTT	0.418000														44			52		0	0	0.000781405	0	0
DGKI	9162	broad.mit.edu	37	7	137339507	137339507	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:137339507G>A	uc003vtt.3	-	4	710	c.709C>T	c.(709-711)Cga>Tga	p.R237*	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	237					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R237L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTCCTTCTCGAAATGTTGGT	0.318000														34			21		0	0	0.00047179	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022471	161022471	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:161022471C>T	uc001fxl.3	-	6	1127	c.781G>A	c.(781-783)Gat>Aat	p.D261N	ARHGAP30_uc001fxk.3_Missense_Mutation_p.D261N|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D107N|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.D107N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	261					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGGGTCCATCGCCAGCCTGC	0.612000														20			7		0	0	8.12818e-05	0	0
TFF2	7032	broad.mit.edu	37	21	43767708	43767708	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:43767708C>T	uc002zaw.3	-	2	405	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005423	NP_005414	Q03403	TFF2_HUMAN	Homo sapiens trefoil factor 2 (TFF2), mRNA.	88	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602000														26			15		0	0	0.000422831	0	0
LRRC23	10233	broad.mit.edu	37	12	7021927	7021927	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:7021927C>T	uc001qrt.4	+	6	1184	c.792C>T	c.(790-792)gcC>gcT	p.A264A	LRRC23_uc001qrp.3_Silent_p.A264A|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	264										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGGAGCTGGCCAAGCTTCGAG	0.597000														40			18		0	0	0.00121646	0	0
WFS1	7466	broad.mit.edu	37	4	6302868	6302868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6302868C>T	uc003giy.3	+	7	1512	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	WFS1_uc003gix.3_Missense_Mutation_p.T449I|WFS1_uc003giz.3_Missense_Mutation_p.T267I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	449					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGCCTGAGCACCCATGCAGAG	0.632000														136			88		0	0	0.000781405	0	0
CETN1	1068	broad.mit.edu	37	18	580810	580810	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:580810G>A	uc002kko.1	+	0	442	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	134	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACGAGCTGGGGGAGAACCTCA	0.537000														35			23		0	0	0.00047179	0	0
CRAT	1384	broad.mit.edu	37	9	131860614	131860614	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:131860614G>A	uc004bxh.3	-	9	1524	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	CRAT_uc004bxk.4_Silent_p.F393F	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	414					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	p.F414F(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAAAATGGTGGAACACCATCA	0.597000														35			26		0	0	0.000339439	0	0
SDK2	54549	broad.mit.edu	37	17	71431685	71431685	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:71431685T>A	uc010dfm.3	-	8	1099	c.1099A>T	c.(1099-1101)Atc>Ttc	p.I367F	SDK2_uc010dfn.2_Missense_Mutation_p.I46F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	367	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGCCGCTGATCTGCAGGCCC	0.642000														4			4		0	0	0.00024832	0	0
ZNF816	125893	broad.mit.edu	37	19	53454821	53454821	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:53454821G>A	uc002qal.2	-	4	558	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.S69S|ZNF816_uc002qam.2_Silent_p.S69S	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTCCATCATGGATTTTAAAG	0.338000														56			28		0	0	0.000409698	0	0
OR10H2	26538	broad.mit.edu	37	19	15839501	15839501	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:15839501C>T	uc002nbm.2	+	0	668	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCATCCTCCTCTCCTATG	0.532000														47			34		0	0	0.00170553	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926460	22926460	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:22926460C>T	uc002dli.3	+	1	753	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		ACATCCCGACCTTTGAGGGCC	0.612000														39			62		0	0	0.000781405	0	0
OR5K1	26339	broad.mit.edu	37	3	98188784	98188784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:98188784C>T	uc003dsm.3	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCTATGACCGCTATGTGGC	0.463000														62			42		0	0	0.000374591	0	0
MEF2A	4205	broad.mit.edu	37	15	100230539	100230539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:100230539C>T	uc010urw.2	+	6	1129	c.770C>T	c.(769-771)cCt>cTt	p.P257L	MEF2A_uc002bve.3_Missense_Mutation_p.P255L|MEF2A_uc002bvg.3_Missense_Mutation_p.P255L|MEF2A_uc010urv.2_Missense_Mutation_p.P187L|MEF2A_uc010bos.3_Missense_Mutation_p.P255L|MEF2A_uc002bvf.3_Missense_Mutation_p.P257L|MEF2A_uc002bvi.3_Missense_Mutation_p.P255L|MEF2A_uc010bot.3_Missense_Mutation_p.P187L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	257					BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGTCTCCCCCTCCACCAGGT	0.478000														79			12		0	0	0.00136819	0	0
DRD3	1814	broad.mit.edu	37	3	113890624	113890624	+	Silent	SNP	A	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:113890624A>G	uc003ebd.2	-	2	639	c.216T>C	c.(214-216)gcT>gcC	p.A72A	DRD3_uc010hqn.1_Silent_p.A72A|DRD3_uc003ebb.1_Silent_p.A72A|DRD3_uc003ebc.1_Silent_p.A72A	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	72					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTCTGCCACAGCCAGGCTCA	0.562000														44			28		0	0	0.000720815	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463913	130463913	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:130463913G>A	uc003enj.3	-	1	731	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	50	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						CCTTCACAACGACCAGGCCTT	0.408000														54			25		0	0	0.000409698	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062066	78062066	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:78062066G>A	uc002ffh.4	+	1	259	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	CLEC3A_uc021tlr.1_5'Flank	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	60					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGCCTTGAAGGAAATTCAAGC	0.473000														33			5		0	0	8.12818e-05	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264594	123264594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:123264594C>T	uc003ieh.3	+	70	12427	c.12382C>T	c.(12382-12384)Cga>Tga	p.R4128*	KIAA1109_uc003iem.3_Nonsense_Mutation_p.R484*|KIAA1109_uc003ien.3_Nonsense_Mutation_p.R62*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4128	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCTCTTGGCCGAAGTCGACA	0.433000														57			32		0	0	0.000491102	0	0
NLRP1	22861	broad.mit.edu	37	17	5462258	5462258	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:5462258G>A	uc002gci.3	-	3	2313	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	NLRP1_uc002gcg.1_Silent_p.F586F|NLRP1_uc002gch.4_Silent_p.F586F|NLRP1_uc002gck.3_Silent_p.F586F|NLRP1_uc002gcj.3_Silent_p.F586F|NLRP1_uc002gcl.3_Silent_p.F586F|NLRP1_uc010clh.3_Silent_p.F586F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	586	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATCTGGACTGAAAAGGGTCT	0.532000														40			18		0	0	0.00074312	0	0
RSAD2	91543	broad.mit.edu	37	2	7030343	7030343	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:7030343G>A	uc002qyp.1	+	3	911	c.775G>A	c.(775-777)Gga>Aga	p.G259R		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	259					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGAGAATTGTGGAGAAGATGC	0.443000														44			21		0	0	0.000229342	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054920	41054920	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:41054920G>A	uc003jmj.4	-	10	1546	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	352							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTATTGAAATGATGTGATCCC	0.373000														57			28		0	0	0.001512	0	0
CELSR2	1952	broad.mit.edu	37	1	109814011	109814011	+	Silent	SNP	G	T	T	rs141656858	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:109814011G>T	uc001dxa.4	+	26	7741	c.7680G>T	c.(7678-7680)tcG>tcT	p.S2560S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2560					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCCCAGCTCGGGCCTGCAGC	0.647000														146			7		0.000157383	0.00117582	0.000157383	1	0
SCN11A	11280	broad.mit.edu	37	3	38924806	38924806	+	Missense_Mutation	SNP	C	T	T	rs147061364	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:38924806C>T	uc021wvy.1	-	17	3336	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	SCN11A_uc010hhn.1_Missense_Mutation_p.R124Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1046					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCAGGTTTTCCGCAGGTTCCA	0.453000														30			17		0	0	0.000422831	0	0
UTS2D	257313	broad.mit.edu	37	3	190999893	190999893	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:190999893C>T	uc003fsu.3	-	4	873	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	29						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		AAGATATGGTCGTCCATGCAC	0.348000														18			4		0	0	0.000602214	0	0
BICC1	80114	broad.mit.edu	37	10	60549476	60549476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60549476G>A	uc001jki.1	+	7	830	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	277					multicellular organismal development		RNA binding	p.G277R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CATCTTGCTGGGAGCTTAGCA	0.408000														111			60		0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117696933	117696933	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:117696933C>T	uc001twn.2	-	14	3081	c.2370G>A	c.(2368-2370)gtG>gtA	p.V790V	NOS1_uc021ren.1_Silent_p.V454V|NOS1_uc021reo.1_Silent_p.V454V|NOS1_uc001twm.2_Silent_p.V790V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	790	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCATGGACATCACCTAGGTGG	0.527000														31			10		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9069570	9069570	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9069570G>A	uc002mkp.3	-	2	18080	c.17876C>T	c.(17875-17877)tCc>tTc	p.S5959F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5961	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGAAGGGAAGTCACAGG	0.498000														21			19		0	0	0.00074312	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093661	69093661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:69093661G>A	uc003hdw.4	-	9	1355	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	407	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATCCAATTGCGATAAGAAGTC	0.398000														44			28		0	0	0.000692331	0	0
COL4A6	1288	broad.mit.edu	37	X	107420087	107420087	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:107420087G>A	uc004enw.4	-	27	2776	c.2673C>T	c.(2671-2673)gcC>gcT	p.A891A	COL4A6_uc004env.4_Silent_p.A890A|COL4A6_uc011msn.2_Silent_p.A890A|COL4A6_uc010npk.3_Silent_p.A890A	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	891	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCCAGAGAGGGCTGGCAACC	0.552000									Alport syndrome with Diffuse Leiomyomatosis					16			44		0	0	0.000781405	0	0
EGFL6	25975	broad.mit.edu	37	X	13624543	13624543	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:13624543G>A	uc004cvj.3	+	5	853	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398000														13			52		0	0	0.000781405	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606443	2606443	+	Splice_Site	SNP	G	C	C	rs120074183		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:2606443G>C	uc001lwn.3	+	8	1141	c.1033_splice	c.e8-1	p.G345_splice	KCNQ1_uc009ydp.1_Splice_Site_p.G129_splice|KCNQ1_uc001lwo.3_Splice_Site_p.G218_splice	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	345			G -> E (in LQT1).|G -> R (in LQT1; familial sudden death).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCTTCCCAGGGGATTCTTGGC	0.632000														93			44		0	0	0.000781405	0	0
G6PC	2538	broad.mit.edu	37	17	41061382	41061382	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41061382G>A	uc002icb.1	+	3	588	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	G6PC_uc010whf.1_Silent_p.T146T	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	170			R -> Q (in GSD1A; loss of catalytic activity).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTCTGTCACGAATCTACCTT	0.502000														136			84		0	0	0.000781405	0	0
POTEG	404785	broad.mit.edu	37	14	19553561	19553561	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:19553561C>T	uc001vuz.1	+	0	197	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	49								p.D48N(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTGGAGACCACGACGATTC	0.607000														352			28		0	0	0.000781405	0	0
OR10J5	127385	broad.mit.edu	37	1	159505215	159505215	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:159505215C>T	uc010piw.2	-	0	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTATTATCTCATTGATAGTG	0.383000														74			15		0	0	0.000219431	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105226	60105226	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:60105226C>T	uc001npd.3	+	1	174	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	54						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GCATAGCAGCCTGGCTGGAAG	0.483000														48			30		0	0	0.000409698	0	0
GPRC5A	9052	broad.mit.edu	37	12	13065068	13065068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:13065068C>T	uc001rba.3	+	2	1623	c.973C>T	c.(973-975)Cag>Tag	p.Q325*		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	325						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CACACATTTTCAGCTGCAGGT	0.468000														29			13		0	0	0.000219431	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2911408	2911408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:2911408G>A	uc010ckd.3	+	16	1553	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	RAP1GAP2_uc010cke.3_Missense_Mutation_p.G473E	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	488					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTTGAGAATGGAGGCCACGGG	0.587000														38			33		0	0	0.000953801	0	0
TLN1	7094	broad.mit.edu	37	9	35711303	35711303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:35711303G>A	uc003zxt.2	-	29	4322	c.3968C>T	c.(3967-3969)tCc>tTc	p.S1323F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1323					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTCCGTGGACAGGGCCTT	0.572000														33			14		0	0	0.000219431	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														35			36		0	0	0.00128727	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030955	58030955	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:58030955C>T	uc021rtp.1	-	7	1402	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.K329K	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCTTTTCCTTCAGGCTGT	0.522000														15			11		0	0	0.000151284	0	0
ECE2	9718	broad.mit.edu	37	3	183995786	183995786	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:183995786G>A	uc003fni.4	+	4	944	c.906G>A	c.(904-906)gtG>gtA	p.V302V	ECE2_uc011brg.1_Silent_p.V230V|ECE2_uc011brh.1_Silent_p.V155V|ECE2_uc003fnl.4_Silent_p.V230V|ECE2_uc003fnm.4_Silent_p.V184V|ECE2_uc003fnk.4_Silent_p.V155V|ECE2_uc011bri.1_Silent_p.V217V|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	302	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.I302I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTACAGGTGGAGCGCATTG	0.577000														28			17		0	0	0.000422831	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:155203356C>T	uc021xge.1	-	21	3064	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	PLCH1_uc021xgd.1_Silent_p.R929R|PLCH1_uc021xgf.1_Silent_p.R891R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	929					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCTTTTTCCTGCCTTTGG	0.498000														43			30		0	0	0.000339439	0	0
AOC3	8639	broad.mit.edu	37	17	41003774	41003774	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41003774G>A	uc002ibv.3	+	0	574	c.414G>A	c.(412-414)gtG>gtA	p.V138V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	138					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGCCCAACGTGAGTGAGCTGG	0.682000														11			8		0	0	0.000442599	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868839	89868839	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:89868839G>A	uc001pdf.4	+	2	303	c.194_splice	c.e2+1	p.R65_splice	NAALAD2_uc009yvx.3_Splice_Site_p.R65_splice|NAALAD2_uc009yvy.3_Splice_Site_p.R65_splice|NAALAD2_uc001pdd.2_Splice_Site_p.R65_splice|NAALAD2_uc001pde.3_Splice_Site_p.R65_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CATTTCTTCGGTAAGTTTATT	0.353000														17			20		0	0	0.000958276	0	0
ABCA6	23460	broad.mit.edu	37	17	67080471	67080471	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:67080471C>T	uc002jhw.1	-	33	4461	c.4286G>A	c.(4285-4287)gGa>gAa	p.G1429E		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1429	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGTGAGTTTCCCAGGAGGCT	0.527000														41			29		0	0	0.00127121	0	0
NEB	4703	broad.mit.edu	37	2	152515633	152515633	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:152515633C>A	uc021vrb.1	-	44	6050	c.6021G>T	c.(6019-6021)atG>atT	p.M2007I	NEB_uc002txu.3_Missense_Mutation_p.M2007I|NEB_uc021vrc.1_Missense_Mutation_p.M2007I|NEB_uc010fnx.3_Missense_Mutation_p.M2007I|NEB_uc021vrd.1_Missense_Mutation_p.M2007I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2007					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATATCAGGCATGATGTGGA	0.378000														140			71		9.11151e-29	6.91311e-28	0.000781405	1	0
PCLO	27445	broad.mit.edu	37	7	82585696	82585696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:82585696G>A	uc003uhx.2	-	4	4862	c.4573C>T	c.(4573-4575)Cca>Tca	p.P1525S	PCLO_uc003uhv.2_Missense_Mutation_p.P1525S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1456					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTTTGTGGAACAGGTGAG	0.413000														39			27		0	0	0.000720815	0	0
USP6	9098	broad.mit.edu	37	17	5045313	5045313	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:5045313G>A	uc002gau.1	+	23	3819	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	USP6_uc002gav.1_Missense_Mutation_p.G530E|USP6_uc010ckz.1_Missense_Mutation_p.G213E	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	530					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGAAAAGGGAGCCACAGGT	0.413000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									105			27		0	0	0.000491102	0	0
CSMD2	114784	broad.mit.edu	37	1	34038143	34038143	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:34038143G>A	uc001bxm.1	-	49	7902	c.7725C>T	c.(7723-7725)ggC>ggT	p.G2575G	CSMD2_uc001bxn.1_Silent_p.G2577G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2577	Sushi 15.					integral to membrane|plasma membrane	protein binding	p.L2574M(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTCCATAGGCCTGTGTCCA	0.592000														44			28		0	0	0.001512	0	0
VWA7	80737	broad.mit.edu	37	6	31736937	31736937	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:31736937C>T	uc011dog.2	-	9	1599	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	VWA7_uc003nxd.2_Missense_Mutation_p.R129Q|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	454						extracellular region											ACGCCGAGCTCGACCCTGAAC	0.517000														316			71		0	0	0.000781405	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000														49			36		0	0	0.00148497	0	0
FAM110B	90362	broad.mit.edu	37	8	59059756	59059756	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:59059756G>A	uc022auu.1	+	0	967	c.967G>A	c.(967-969)Gac>Aac	p.D323N	FAM110B_uc003xtj.1_Missense_Mutation_p.D323N	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	323						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ACAGTCTCAGGACAGTAACAG	0.448000														36			46		0	0	0.000781405	0	0
FAM13C	220965	broad.mit.edu	37	10	61029749	61029749	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:61029749G>A	uc010qif.1	-	6	845	c.779C>T	c.(778-780)tCg>tTg	p.S260L	FAM13C_uc010qid.2_Missense_Mutation_p.S155L|FAM13C_uc001jkn.3_Missense_Mutation_p.S238L|FAM13C_uc001jko.3_Missense_Mutation_p.S238L|FAM13C_uc010qie.2_Missense_Mutation_p.S155L|FAM13C_uc001jkp.3_Missense_Mutation_p.S155L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	238								p.S238L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCATCGTGGCGACAGCAGTGG	0.542000														36			18		0	0	0.000958276	0	0
YIPF7	285525	broad.mit.edu	37	4	44624578	44624578	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:44624578G>A	uc021xnx.1	-	5	713	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	232						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGGATGACATGATTCCAAAGA	0.458000														33			16		0	0	0.00074312	0	0
CALCRL	10203	broad.mit.edu	37	2	188211048	188211048	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:188211048G>A	uc010frt.3	-	13	1632	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	CALCRL_uc002upv.4_Missense_Mutation_p.R417C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	417						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GACGCACTACGAAGAGCTTCT	0.378000														31			18		0	0	0.000566183	0	0
WDR49	151790	broad.mit.edu	37	3	167218038	167218038	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:167218038C>T	uc003fev.1	-	13	2182	c.1878G>A	c.(1876-1878)gtG>gtA	p.V626V	WDR49_uc003feu.1_Silent_p.V451V|WDR49_uc011bpd.1_Silent_p.V591V|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	626										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGGTTTATTCACTTCAGGCA	0.433000														128			71		0	0	0.000781405	0	0
OR5W2	390148	broad.mit.edu	37	11	55681516	55681516	+	Silent	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:55681516G>A	uc010rir.2	-	0	543	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGGAGGGATATCACAGA	0.403000														33			14		0	0	0.000219431	0	0
ATRX	546	broad.mit.edu	37	X	76814187	76814187	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:76814187G>A	uc004ecp.4	-	28	6689	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_uc004ecq.4_Missense_Mutation_p.R2115C|ATRX_uc004eco.4_Missense_Mutation_p.R1938C	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2153	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R2153C(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTCCAAAGCGATAAACTCTG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							15			56		0	0	0.000781405	0	0
FASN	2194	broad.mit.edu	37	17	80041110	80041110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:80041110G>A	uc002kdu.3	-	31	5650	c.5533C>T	c.(5533-5535)Caa>Taa	p.Q1845*	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1845	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGCTTCCCTTGGGCCATGTAG	0.687000														53			21		0	0	0.000720815	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539312	86539312	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:86539312C>T	uc011kha.2	-	15	2360	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	KIAA1324L_uc003uie.3_Silent_p.K558K|KIAA1324L_uc011kgz.2_Silent_p.K611K|KIAA1324L_uc003uif.2_Silent_p.K477K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	725						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGCCATCTTCTTCCCCTAGG	0.383000														14			13		0	0	0.000151284	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813667	100813667	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:100813667C>T	uc010svi.2	+	11	1813	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	SLC17A8_uc009ztx.3_Silent_p.V450V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	500					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTATGGGGTCTTTGCTTCTG	0.463000														56			28		0	0	0.00178596	0	0
F2	2147	broad.mit.edu	37	11	46747657	46747657	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:46747657G>A	uc001ndf.4	+	6	851	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	270	Kringle 2.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CGGGGATGAGGAGGGCGTGTG	0.627000														44			28		0	0	0.000491102	0	0
PDE2A	5138	broad.mit.edu	37	11	72297172	72297172	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:72297172G>A	uc010rrc.2	-	13	1370	c.1124C>T	c.(1123-1125)aCc>aTc	p.T375I	PDE2A_uc001oso.3_Missense_Mutation_p.T354I|PDE2A_uc010rra.2_Missense_Mutation_p.T368I|PDE2A_uc001osn.3_Missense_Mutation_p.T119I|PDE2A_uc010rrb.2_Missense_Mutation_p.T366I|PDE2A_uc010rrd.2_Missense_Mutation_p.T260I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	375	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGTGAGCACGGTGCTGGTGTA	0.602000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			51		0	0	0.000781405	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158857	18158857	+	Silent	SNP	C	T	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18158857C>T	uc021qek.1	+	0	108	c.108C>T	c.(106-108)atC>atT	p.I36I	MRGPRX3_uc001mnu.3_Silent_p.I36I	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	36						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582000														64			38		0	0	0.000680045	0	0
OR2A1	346528	broad.mit.edu	37	7	143929763	143929763	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:143929763delC	uc011kub.2	-	0	174	c.174delG	c.(172-174)atgfs	p.M58fs		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGAAGAAGTACATGGGGGTGT	0.592													---	2	---	---	4	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	T	T	rs148250832	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:138715799_138715800insT	uc004cgr.4	-	9	1396_1397	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_uc004cgq.4_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.3_Frame_Shift_Ins_p.T188fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													---	3	---	---	3	---					
FRMPD2	143162	broad.mit.edu	37	10	49379224	49379224	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49379224delT	uc001jgi.3	-	25	3582	c.3251delA	c.(3250-3252)aagfs	p.K1084fs	FRMPD2_uc001jgh.3_Frame_Shift_Del_p.K1052fs|FRMPD2_uc001jgj.3_Frame_Shift_Del_p.K1053fs|FRMPD2_uc001jgf.3_Frame_Shift_Del_p.K95fs|FRMPD2_uc001jgg.3_Frame_Shift_Del_p.K36fs|FRMPD2_uc001jgk.3_Frame_Shift_Del_p.K36fs	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1084	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTGGCATTCTTTTTTAGTTT	0.398													---	1	---	---	5	---					
AHNAK2	113146	broad.mit.edu	37	14	105444534	105444534	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:105444534delC	uc010axc.1	-	0	161	c.41delG	c.(40-42)ggafs	p.G14fs		NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	14						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCGGGGGTTCCGGGCCAGGT	0.801													---	4	---	---	2	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:91019925delA	uc002bpl.1	+	23	2916	c.2815delA	c.(2815-2817)aaafs	p.K939fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	939					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													---	536	---	---	7	---					
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Translation_Start_Site	INS	-	G	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:46476609_46476610insG	uc002pdv.2	-	0						NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.							nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762													---	7	---	---	4	---					
PPP2R3B	28227	broad.mit.edu	37	X	308374	308374	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:308374delC	uc004cpg.3	-	2	829	c.565delG	c.(565-567)gagfs	p.E189fs	PPP2R3B_uc011mha.2_Frame_Shift_Del_p.E28fs	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	189					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCGTGCGCTCCCCGCCGGCG	0.711													---	4	---	---	2	---