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
OR7E91P	79315	broad.mit.edu	37	2	71256050	71256050	+	RNA	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:71256050C>T	uc002sho.3	+	2		c.220C>T			OR7E91P_uc010fdz.3_Non-coding_Transcript					Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA.																		CCCAAGGTGTCCAAGTCACAC	0.473000														2			4		0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35749931	35749931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:35749931G>A	uc002nyl.3	+	2	905	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Missense_Mutation_p.G228R|LSR_uc002nyn.3_Missense_Mutation_p.G228R|LSR_uc002nyo.3_Missense_Mutation_p.G228R|LSR_uc002nyp.3_Missense_Mutation_p.G191R	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	228	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACCTCCAGGGGAACAATGA	0.592000														56			30		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451437	55451437	+	Silent	SNP	G	A	A	rs140816006		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:55451437G>A	uc002qih.4	-	3	826	c.750C>T	c.(748-750)ttC>ttT	p.F250F	NLRP7_uc010esk.3_Silent_p.F250F|NLRP7_uc002qig.4_Silent_p.F250F|NLRP7_uc002qii.4_Silent_p.F250F|NLRP7_uc010esl.3_Silent_p.F278F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	250	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCGACCACGAACAGGATTC	0.577000														99			65		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430789	37430789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:37430789G>A	uc021ppc.1	+	6	895	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E266K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACC	0.478000														34			12		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679626	104679626	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:104679626C>T	uc001kwm.3	+	0	1552	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	CNNM2_uc001kwn.3_Silent_p.A463A|CNNM2_uc001kwl.3_Silent_p.A463A	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	463	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGCGAAGCCATCCTGGACT	0.577000														21			18		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108822756	108822756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:108822756C>T	uc003dxl.3	-	3	250	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MORC1_uc011bhn.2_Missense_Mutation_p.E55K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	55					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCAGTTTTTCATTATCCACT	0.383000														61			54		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628636	172628636	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:172628636C>T	uc001gis.3	+	0	452	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	FASLG_uc001git.3_Silent_p.L99L	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	99					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.G98G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGGATTGGGCCTGGGGATGTT	0.567000														18			11		0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95646227	95646227	+	RNA	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:95646227C>T	uc004asr.4	+	8		c.1920C>T								Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		CTCCCAGTGTCCAGTAGGGCA	0.567000														2			40		0	0	1	0	0
ZNF826P	664701	broad.mit.edu	37	19	20607701	20607701	+	RNA	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:20607701G>A	uc002now.2	-	0		c.71C>T			ZNF826P_uc010ecl.2_Non-coding_Transcript|ZNF826P_uc010xrf.2_Non-coding_Transcript|ZNF826P_uc021urn.1_Non-coding_Transcript|ZNF826P_uc002noz.3_Non-coding_Transcript					Homo sapiens zinc finger protein 826, pseudogene (ZNF826P), non-coding RNA.											large_intestine(4)	4						ACAGAGCAGTGAACAAGAGAT	0.577000														7			7		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146205	31146205	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:31146205T>G	uc003tca.2	+	15	1603	c.1314T>G	c.(1312-1314)agT>agG	p.S438R	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.S466R|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.S465R|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.S417R|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.S466R	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	438					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGCCAGCAGTGGGGTGAATG	0.587000														39			29		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22539424	22539424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:22539424C>T	uc001wcy.3	+	1	331	c.320C>T	c.(319-321)tCc>tTc	p.S107F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		TTGTACATTTCCTCTTCCCAG	0.527000														27			15		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037718	220037718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:220037718G>A	uc002vju.4	-	7	975	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.R275C	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	275					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AGGAGGCAACGGGAGGTCAGT	0.617000														136			4		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119686	47119686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:47119686G>A	uc002iom.3	+	8	1358	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	IGF2BP1_uc010dbj.3_Missense_Mutation_p.E203K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	342	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E342K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCGAGCAGGAAATAATGAA	0.517000														1			58		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284414	159284414	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:159284414G>A	uc010piu.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTTCAAAGAGGAACTCAGTCA	0.423000														88			77		0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2752551	2752552	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:2752551_2752552GG>TA	uc003jdc.3	+	0	290_291	c.173_174GG>TA	c.(172-174)tgg>tTA	p.W58L	C5orf38_uc011cmg.2_Missense_Mutation_p.W58L|C5orf38_uc011cmh.2_Non-coding_Transcript|C5orf38_uc011cmi.2_Non-coding_Transcript|C5orf38_uc011cmj.2_Non-coding_Transcript	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA.	58						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGGGCGCCTTGGTTGCGAATTG	0.673000														11			6		0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5920177	5920177	+	Silent	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:5920177A>T	uc010qat.2	-	6	1545	c.1002T>A	c.(1000-1002)tcT>tcA	p.S334S	ANKRD16_uc009xie.3_Intron|ANKRD16_uc009xif.3_Silent_p.S334S|ANKRD16_uc001iiq.3_3'UTR	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	334										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGATGTCTTCAGAATCCTTCA	0.557000														74			42		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95541354	95541354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:95541354G>A	uc003ygo.2	-	6	895	c.824C>T	c.(823-825)cCt>cTt	p.P275L	KIAA1429_uc003ygp.3_Missense_Mutation_p.P275L|KIAA1429_uc010maz.2_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	275	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ttcctcctcAGGAATACTGTC	0.438000														6			8		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121219325	121219325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:121219325C>T	uc003yox.3	+	9	1448	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	COL14A1_uc003yoy.3_Missense_Mutation_p.P73S|COL14A1_uc010mde.1_Missense_Mutation_p.P73S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	395	Fibronectin type-III 2.				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)			GGGTGGAAAACCAGACGAGGT	0.373000														14			11		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33465234	33465234	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:33465234G>A	uc003zsz.3	-	19	2753	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Silent_p.F881F|NOL6_uc011lob.2_Silent_p.F832F|NOL6_uc003ztb.1_Silent_p.F884F	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	884					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGGTGCAGGAAAAGGGCAG	0.617000														0			5		0	0	1	0	0
EXOSC3	51010	broad.mit.edu	37	9	37785066	37785066	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:37785066C>T	uc004aal.2	-	1	1	c.-25_splice	c.e1-1		EXOSC3_uc010mly.1_Splice_Site|EXOSC3_uc004aam.2_Splice_Site	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.						CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		AACACCGTTTCCGGTACCCGC	0.632000														1			3		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301621	42301621	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:42301621C>T	uc002orn.1	+	1	241	c.165C>T	c.(163-165)gtC>gtT	p.V55V	CEACAM3_uc010eia.1_Silent_p.V55V|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	55	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TTCTACTTGTCCACAATCTGC	0.493000														96			89		0	0	1	0	0
C2orf28	51374	broad.mit.edu	37	2	27438360	27438360	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:27438360C>T	uc002rjf.3	+	3	650	c.477C>T	c.(475-477)ccC>ccT	p.P159P	C2orf28_uc002rjg.3_Silent_p.P46P|CAD_uc002rji.3_5'Flank|CAD_uc010eyw.3_5'Flank	NM_001170795	NP_001164266	Q6UW56	APR3_HUMAN	Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA.	104	EGF-like.					integral to membrane|plasma membrane				large_intestine(2)|lung(2)|skin(2)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCAAACCCCCTCAAAGGTG	0.468000														59			65		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123751988	123751988	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:123751988G>A	uc004bkv.3	-	23	3042	c.3012C>T	c.(3010-3012)ccC>ccT	p.P1004P		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1004					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CACTCCCTTTGGGGAGGTGGG	0.438000														76			31		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:57886005G>A	uc001nml.1	-	0	912	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000														24			41		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760057	54760057	+	Silent	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:54760057T>G	uc010yer.1	-	3	588	c.477A>C	c.(475-477)tcA>tcC	p.S159S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.S168S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.S168S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	168	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGCTTCTGTGAGTACAGGG	0.542000														26			22		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618162	122618162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:122618162C>T	uc001ubq.3	+	8	1468	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	MLXIP_uc001ubr.3_Missense_Mutation_p.P205S|MLXIP_uc001ubs.1_Missense_Mutation_p.P61S|MLXIP_uc001ubt.3_Missense_Mutation_p.P61S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	454					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)		ACCATTAGTTCCTCCTCCTGC	0.632000														17			18		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202339374	202339374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:202339374C>T	uc002uyd.4	+	5	685	c.320C>T	c.(319-321)gCc>gTc	p.A107V	STRADB_uc021vvb.1_Missense_Mutation_p.A107V	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	107	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TCCTAGAAAGCCGTGATTCTA	0.408000														41			42		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10165989	10165989	+	RNA	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:10165989G>A	uc010dwx.2	+	14		c.1852G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGGAACCCAGGAAGCACTTGG	0.607000														58			31		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915320	156915320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:156915320G>A	uc003lwz.3	-	20	2582	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	ADAM19_uc003lww.2_Missense_Mutation_p.P568S|ADAM19_uc003lwy.3_Missense_Mutation_p.P434S|ADAM19_uc011ddr.1_Missense_Mutation_p.P766S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	835					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGCTTGGAGGAGGCCTCCTG	0.587000														10			93		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390024	48390024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:48390024G>A	uc001jez.3	-	0	968	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	285	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCCCCAGGGACCTGGACAC	0.701000														6			10		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653120	159653120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:159653120C>T	uc010kjv.3	+	10	1776	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	FNDC1_uc010kjw.1_Missense_Mutation_p.R411C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	526						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCAGCTTCGCGCCAAGAA	0.562000														11			20		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474710	108474710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:108474710G>A	uc003dxh.2	-	2	349	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	84					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AACATCCCACGAACCACAGCC	0.577000														66			52		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80042406	80042406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:80042406G>A	uc002kdu.3	-	26	4868	c.4751C>T	c.(4750-4752)tCc>tTc	p.S1584F	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1584					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)	GGCATCAGGGGACAGCTTGCC	0.682000														1			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458554	179458554	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179458554C>T	uc021vsy.1	-	246	50994	c.50769G>A	c.(50767-50769)gaG>gaA	p.E16923E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E10618E|TTN_uc021vta.1_Silent_p.E10551E|TTN_uc021vtb.1_Silent_p.E10426E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17850	Fibronectin type-III 22.						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)			CTTTGGTCACCTCATCAAAAC	0.388000														4			7		0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64757232	64757232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:64757232G>A	uc021qlb.1	-	0	755	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	BATF2_uc001oce.1_5'UTR|BATF2_uc001ocf.1_Missense_Mutation_p.S65F	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	223						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGCCTGCAGGGACTGGATCTC	0.652000														28			11		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060553	128060553	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:128060553T>G	uc003eki.3	+	4	1302	c.1264T>G	c.(1264-1266)Tgc>Ggc	p.C422G		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	422						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCCCGTCACCTGCCCTCGGCT	0.622000														62			33		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634459	156634459	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:156634459G>A	uc003iov.3	+	7	1832	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	GUCY1A3_uc010iqc.2_Silent_p.L432L|GUCY1A3_uc010iqd.3_Silent_p.L431L|GUCY1A3_uc003iow.3_Silent_p.L432L|GUCY1A3_uc003iox.3_Silent_p.L432L|GUCY1A3_uc010iqe.3_Silent_p.L197L|GUCY1A3_uc003ioy.3_Silent_p.L432L|GUCY1A3_uc003ioz.3_Silent_p.L197L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L432L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	432					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGGGAAGCTGAAGGCTACCC	0.527000														15			19		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662547	662547	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:662547G>A	uc001qii.1	+	13	1458	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	B4GALNT3_uc001qij.1_Silent_p.L389L|B4GALNT3_uc001qik.1_Silent_p.L35L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	486						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGGCCTGCTGGCCCCCT	0.627000														48			41		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677132	100677132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:100677132C>T	uc003uxp.1	+	2	2488	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	812	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCATC	0.478000														286			199		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241545	7241545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:7241545C>T	uc010sfy.2	-	5	865	c.806G>A	c.(805-807)gGg>gAg	p.G269E	C1R_uc010sfz.1_Missense_Mutation_p.G283E|C1R_uc021quh.1_Missense_Mutation_p.G158E|C1R_uc010sga.1_Missense_Mutation_p.G235E	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	269	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.L269L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTTTGCTTCCCACAGAACTC	0.547000														7			5		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37417938	37417938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr21:37417938G>A	uc002yuw.2	-	4	2041	c.668C>T	c.(667-669)cCg>cTg	p.P223L	SETD4_uc021wiy.1_Missense_Mutation_p.P223L|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.P199L|SETD4_uc002yuz.3_Missense_Mutation_p.P199L|SETD4_uc002yuy.3_Missense_Mutation_p.P223L|SETD4_uc002yva.3_Missense_Mutation_p.P199L	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	223	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ACAGGTGTCCGGCTCTGCAGA	0.572000														44			41		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338452	103338452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:103338452C>T	uc022ajr.1	-	9	1151	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RELN_uc022ajq.1_Missense_Mutation_p.E331K|RELN_uc010liz.3_Missense_Mutation_p.E331K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	331					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E331K(4)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448000														69			64		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915811	227915811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:227915811C>T	uc021vxr.1	-	31	3133	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1011E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1011	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTGTGAAATCCAGGTGGTCC	0.547000														77			45		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:98002110C>T	uc003dsj.1	+	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378000														39			41		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763921	82763921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:82763921G>A	uc003uhx.2	-	2	3234	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	PCLO_uc003uhv.2_Missense_Mutation_p.S982F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	928					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						TTGACCTGTGGATTTGGGTGG	0.522000														11			14		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015287	135015287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:135015287C>T	uc001llz.1	+	16	3273	c.3272C>T	c.(3271-3273)cCc>cTc	p.P1091L	KNDC1_uc001lma.1_Missense_Mutation_p.P1026L|KNDC1_uc001lmb.1_Missense_Mutation_p.P503L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1091					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCTGCAGCCCCGGCTGGTGC	0.721000														4			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179392412	179392412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179392412C>T	uc021vsy.1	-	310	99962	c.99737G>A	c.(99736-99738)gGa>gAa	p.G33246E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26941E|TTN_uc021vta.1_Missense_Mutation_p.G26874E|TTN_uc021vtb.1_Missense_Mutation_p.G26749E|TTN_uc002umq.3_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34173							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)			CGAGAAGCTTCCTTGCAAGCT	0.483000														17			10		0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887846	139887846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:139887846C>T	uc004cki.3	+	4	499	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	Homo sapiens chromosome 9 open reading frame 142 (C9orf142), mRNA.	158												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTGCAGGGCCTCAGCTCTTC	0.602000														1			5		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914420	10914420	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr21:10914420G>A	uc002yip.1	-	20	1667	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I415I|TPTE_uc002yir.1_Silent_p.I395I|TPTE_uc010gkv.1_Silent_p.I295I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	433	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TTTCTATTTGGATTTTTAGAT	0.313000														30			5		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39053786	39053786	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:39053786G>A	uc003ooj.4	+	12	1389	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	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.	443					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			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)	CCAGCAGCCTGAGCAGTGGAG	0.637000														73			70		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831412	58831412	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:58831412A>T	uc001xdp.3	+	19	2859	c.2605A>T	c.(2605-2607)Ata>Tta	p.I869L	ARID4A_uc001xdo.3_Missense_Mutation_p.I869L|ARID4A_uc001xdq.3_Missense_Mutation_p.I869L|ARID4A_uc010apg.1_Missense_Mutation_p.I547L	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	869					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I869V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAAAAAATAAGAATTGA	0.323000														19			20		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688965	55688965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:55688965C>T	uc010sph.2	-	0	52	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AACTGTGGGTCATCTGTCAAT	0.378000														26			25		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561085	44561085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr18:44561085G>A	uc002lcr.1	-	0	904	c.551C>T	c.(550-552)cCt>cTt	p.P184L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	184					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.P184T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCGGGCTCAGGGCCCTCGGG	0.701000														34			17		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961464	51961464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:51961464C>T	uc002pwt.3	-	0	245	c.178G>A	c.(178-180)Gac>Aac	p.D60N	SIGLEC8_uc010yda.2_Missense_Mutation_p.D60N|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D60N	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	60	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAACTGGGTCAGAGTCAGTC	0.587000														68			54		0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133901898	133901898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:133901898G>A	uc003eqc.1	-	10	1215	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	RYK_uc003eqd.1_Nonsense_Mutation_p.Q370*	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	371	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						ATTGTCACCTGAATTTCAGAA	0.343000														7			8		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36269237	36269237	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:36269237T>G	uc002obs.2	+	3	389	c.245T>G	c.(244-246)gTg>gGg	p.V82G	ARHGAP33_uc002obr.2_Missense_Mutation_p.V82G|ARHGAP33_uc002obt.2_5'UTR|ARHGAP33_uc010eek.2_Missense_Mutation_p.V100G	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	82	PX; atypical.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATGAGCTGGTGTTCGGGGTG	0.607000														56			51		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31609293	31609293	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:31609293C>T	uc002rnv.1	-	8	859	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	260	FAD-binding PCMH-type.				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			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)	TCTCCGTGTTCCCCACGACCA	0.627000														44			34		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391579	5391580	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:5391579_5391580CC>TT	uc003soi.4	-	16	5689_5690	c.5340_5341GG>AA	c.(5338-5343)aggggc>agAAgc	p.G1781S	TNRC18_uc003soj.3_Missense_Mutation_p.G163S	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1781							DNA binding	p.G1781C(2)|p.R1780S(2)|p.R1780_G1781>SC(2)|p.G836C(1)|p.R835_G836>SC(1)|p.R835S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCGCCAGGCCCCTCTTGGTCA	0.649000														16			14		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010511	173010511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:173010511G>A	uc001giu.2	-	2	597	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	199					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.S177F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						AAGTCTCTAGGAGATGAATTG	0.408000														19			13		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103274276	103274276	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:103274276A>C	uc003ykr.2	-	54	8164	c.7709T>G	c.(7708-7710)tTt>tGt	p.F2570C	UBR5_uc003yks.2_Missense_Mutation_p.F2569C|UBR5_uc003ykq.3_Missense_Mutation_p.F81C	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2570	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGGATCAAAAAAAGCAAAATC	0.343000														30			17		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176815	41176815	+	Silent	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:41176815A>G	uc003jmk.2	-	7	1140	c.930T>C	c.(928-930)gaT>gaC	p.D310D	C6_uc003jml.1_Silent_p.D310D|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	310	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAAAACTAGAATCCTAAATGG	0.308000														8			8		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199302	86199302	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:86199302C>T	uc001taf.1	-	1	825	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	162					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAAGTTTTCCTGACTATTC	0.388000														72			59		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41052626	41052626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:41052626C>T	uc003jmj.4	-	11	1661	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	391							binding	p.R390L(1)		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						GGCCATCCTTCCCGAGCTTCA	0.393000														32			26		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092614	18092614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:18092614C>T	uc002nht.3	+	4	905	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	KCNN1_uc010xqa.1_Missense_Mutation_p.H199Y	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	199					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GTGCGCCATTCACCCGGTGCC	0.662000														19			19		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605023	58605024	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:58605023_58605024CC>TT	uc010tro.2	-	2	1365_1366	c.1167_1168GG>AA	c.(1165-1170)gagggt>gaAAgt	p.G390S	C14orf37_uc001xdc.3_Missense_Mutation_p.G352S|C14orf37_uc001xdd.3_Missense_Mutation_p.G352S|C14orf37_uc001xde.3_Missense_Mutation_p.G352S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	352						integral to membrane	binding	p.E351_G352>DC(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCTTCCATACCCTCATGGCTTA	0.554000														107			65		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699572	169699572	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:169699572C>T	uc001ggm.4	-	5	872	c.715_splice	c.e5+1	p.V239_splice	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	239	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAGGGATTTACCATTGCAGGC	0.438000														68			34		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122131379	122131379	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:122131379G>A	uc022akp.1	-	9	2060	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	CADPS2_uc003vkg.4_Silent_p.T246T|CADPS2_uc022akq.1_Silent_p.T546T|CADPS2_uc010lkq.3_Silent_p.T546T|CADPS2_uc022akr.1_Silent_p.T546T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	546	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGTGGGGATCGGTATAATCCA	0.368000														7			6		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447897	24447897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:24447897G>A	uc001biq.2	-	6	1326	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	IL22RA1_uc010oeg.1_Missense_Mutation_p.P307S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P239S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P375S	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	375						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCGTAGAATGGGAATTGAGCT	0.617000														76			92		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713998	23713998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:23713998C>T	uc002dma.4	-	8	1193	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	ERN2_uc010bxp.3_Missense_Mutation_p.E342K|ERN2_uc010bxq.1_Missense_Mutation_p.E150K	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	294					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AAGCCAGTTTCATCCTTCCCC	0.478000														42			39		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239059547	239059547	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:239059547A>T	uc002vxr.2	+	7	1685	c.1578A>T	c.(1576-1578)gaA>gaT	p.E526D		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	526										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGGGCATGGAAGGTGACTACC	0.677000														15			12		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452406	53452406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:53452406C>T	uc001sbp.3	+	15	1411	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	TENC1_uc001sbl.3_Missense_Mutation_p.P302S|TENC1_uc001sbn.3_Missense_Mutation_p.P436S|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	426					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCCTCCAGCCCCGAGAAGAT	0.607000														25			27		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333824	123333824	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:123333824T>C	uc003ieo.3	+	9	1341	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	ADAD1_uc003iep.3_Missense_Mutation_p.V359A|ADAD1_uc003ieq.3_Missense_Mutation_p.V352A	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	370	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V370A(2)|p.T369A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATCTGACTGTTTACTGTCCT	0.408000														63			68		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085504	9085504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:9085504C>T	uc002mkp.3	-	0	6515	c.6311G>A	c.(6310-6312)aGa>aAa	p.R2104K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2104	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						TTCTGGATTTCTTTGCTTAGC	0.502000														94			85		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508794	71508794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:71508794G>A	uc011caw.1	+	8	1932	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	551					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATACCCTGAGGAAATCCCTTC	0.428000														132			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106631451	106631451	+	RNA	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:106631451C>T	uc021ser.1	-	1557		c.30528G>A								Parts of antibodies, mostly variable regions.																		GAAGAGGATCCCCCAGGTACA	0.547000														36			20		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53155759	53155759	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:53155759G>A	uc003dgj.3	-	4	568	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	172					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGCAACCACAGCACGAGAAAA	0.408000														20			12		0	0	1	0	0
GADD45B	4616	broad.mit.edu	37	19	2477146	2477146	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:2477146T>A	uc002lwb.2	+	2	500	c.266T>A	c.(265-267)aTc>aAc	p.I89N	GADD45B_uc002lwc.1_Missense_Mutation_p.I74N	NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	89					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCAACATCGTGCGGGTG	0.627000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			44		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372638	175372639	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:175372638_175372639GG>AA	uc001gkp.1	-	1	694_695	c.613_614CC>TT	c.(613-615)ccg>TTg	p.P205L	TNR_uc009wwu.1_Missense_Mutation_p.P205L|TNR_uc010pmz.1_Missense_Mutation_p.P205L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAACCCAGCGGGCAGTAGGGC	0.594000														167			135		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921284	206921284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:206921284G>A	uc002vaz.4	-	3	1007	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	201					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCTGCTGTGAAGGTGCAGG	0.527000														13			7		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	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									40			45		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636330	73636330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr13:73636330C>T	uc001vje.3	+	1	917	c.593C>T	c.(592-594)aCc>aTc	p.T198I	KLF5_uc001vjd.3_Missense_Mutation_p.T107I	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	198					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCACACCAGACCGCAGCTCCA	0.537000														41			50		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735840	158735840	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:158735840G>A	uc010piq.2	-	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGATCAGCAGGAAGGTGGCTA	0.493000														60			43		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19580814	19580814	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:19580814C>T	uc002dgn.2	+	2	501	c.186C>T	c.(184-186)tcC>tcT	p.S62S	C16orf62_uc002dgo.2_Silent_p.S151S|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.S151S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	62	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCTCCTCCTCCAGCTCCGTGG	0.567000														53			39		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628503	205628503	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:205628503G>A	uc001hda.1	-	4	1860	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	507					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCATAAACAGGGATGGGGCCA	0.622000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			24		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110401307	110401307	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:110401307G>C	uc003yne.3	+	8	728	c.624_splice	c.e8-1	p.L208_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	208	IPT/TIG 2.				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)			TTTTTAATTAGATATGGTCTA	0.289000										HNSCC(38;0.096)				25			21		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89809283	89809283	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:89809283C>T	uc002fou.1	-	36	3732	c.3690G>A	c.(3688-3690)ctG>ctA	p.L1230L	FANCA_uc010vpn.1_Silent_p.L1230L|FANCA_uc010vpo.2_Silent_p.L316L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1230					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCGCAAAGTGCAGTGCAGCAG	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					63			57		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844436	215844436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:215844436C>T	uc001hku.1	-	63	14398	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4671	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTATAATTCGTAATACAAA	0.418000										HNSCC(13;0.011)				45			33		0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097263	44097263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:44097263G>A	uc002oww.2	-	1	905	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	IRGQ_uc010eiv.2_Missense_Mutation_p.P263S	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	263							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCTGGGAAGGGAGTGGGTGCT	0.692000														13			13		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36306984	36306984	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:36306984T>C	uc001bzj.2	+	13	2133	c.1943T>C	c.(1942-1944)gTt>gCt	p.V648A		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	648	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTAACATGGTTCGAGAGCTG	0.522000														91			3		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:75707705C>T	uc010oqz.1	-	7	696	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000														54			18		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278789	47278789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:47278789G>A	uc002pfs.3	-	7	2224	c.1604C>T	c.(1603-1605)tCt>tTt	p.S535F	SLC1A5_uc010xyh.2_Missense_Mutation_p.S333F|SLC1A5_uc002pfq.3_Missense_Mutation_p.S359F|SLC1A5_uc002pfr.3_Missense_Mutation_p.S307F	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	535					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TTCCTTCTCAGAGGCGACCGT	0.587000														87			91		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169053734	169053734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:169053734G>A	uc003qwr.2	+	10	1364	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	SMOC2_uc003qws.2_Missense_Mutation_p.E371K|SMOC2_uc011egu.2_Missense_Mutation_p.E48K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	371	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAAAGGAAATCAAACC	0.443000														44			42		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522093	7522093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:7522093G>A	uc010sge.2	-	14	3955	c.3929C>T	c.(3928-3930)tCg>tTg	p.S1310L	CD163L1_uc001qsy.3_Missense_Mutation_p.S1300L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1300	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGGCCAAACGAAGCGTCCCT	0.587000														65			65		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411173	43411173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:43411173G>A	uc002ovj.1	-	4	1240	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.P221S|PSG4_uc002ovg.1_Missense_Mutation_p.P381S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	382	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTAATTTGGGGGATAAAGAGC	0.453000														369			143		0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79525461	79525461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:79525461C>T	uc003hld.3	+	11	1130	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	274					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACTCTGAACCGAATAATGGT	0.368000														31			44		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104255	131104255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:131104255G>A	uc003yta.2	-	24	2764	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	ASAP1_uc003ysz.2_Missense_Mutation_p.P657S|ASAP1_uc011liw.2_Missense_Mutation_p.P839S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	846	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCCCATGAGGTAGTGGGCTG	0.617000														105			72		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48683676	48683676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:48683676G>A	uc003cuf.1	-	23	7520	c.7520C>T	c.(7519-7521)cCc>cTc	p.P2507L	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.P420L|CELSR3_uc003cul.3_Missense_Mutation_p.P2437L|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2437	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTCATGACGGGGTTCTGAGG	0.612000														35			21		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890693	15890693	+	RNA	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:15890693C>T	uc002nbo.3	-	0		c.106G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CTGCCCGAGGCCCAGCCAGGA	0.667000														17			16		0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														9			6		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612737	20612737	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:20612737G>A	uc010tla.2	+	0	843	c.843G>A	c.(841-843)ttG>ttA	p.L281L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	281					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)		TCTTTCCTTTGATGAACCCTG	0.408000														50			52		0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15920413	15920413	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:15920413T>C	uc011lmu.2	+	23	3881	c.3770T>C	c.(3769-3771)tTa>tCa	p.L1257S	CCDC171_uc003zmd.3_Missense_Mutation_p.L1249S|CCDC171_uc003zme.3_Missense_Mutation_p.L1164S	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	1249																	AATGCAAGTTTACAATCAGTA	0.313000														1			19		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97869149	97869149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:97869149G>A	uc003dsg.1	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGTTCAAAAGAAATGATGTT	0.303000														5			11		0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945575	6945575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:6945575G>A	uc002gei.1	-	2	1264	c.926C>T	c.(925-927)cCg>cTg	p.P309L		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	309						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CAGCAGCCGCGGGAGGGGCAC	0.741000														0			5		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117630061	117630061	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:117630061T>A	uc003pxp.1	-	40	6664	c.6465A>T	c.(6463-6465)ttA>ttT	p.L2155F	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2155	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACCAAGAGTTAAAATCTCCC	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									23			17		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322660	173322660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:173322660G>A	uc021xhm.1	+	0	592	c.272G>A	c.(271-273)gGg>gAg	p.G91E	NLGN1_uc003fio.1_Missense_Mutation_p.G91E|NLGN1_uc010hww.1_Missense_Mutation_p.G91E|NLGN1_uc003fip.1_Missense_Mutation_p.G91E	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	91					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCACCAACAGGGGAACGTCGT	0.448000														67			44		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743950	41743950	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:41743950G>A	uc010ehj.3	+	6	1075	c.885G>A	c.(883-885)cgG>cgA	p.R295R	AXL_uc010ehi.1_Silent_p.R295R|AXL_uc010ehk.3_Silent_p.R295R	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	295	Fibronectin type-III 1.		R -> W (in a lung neuroendocrine carcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R295W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCAGCTTCGGCTAGGCAGCC	0.647000														111			136		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23110990	23110990	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:23110990A>T	uc009vqj.1	+	2	377	c.232A>T	c.(232-234)Atc>Ttc	p.I78F	EPHB2_uc001bge.3_Missense_Mutation_p.I78F|EPHB2_uc001bgf.3_Missense_Mutation_p.I78F|EPHB2_uc010odu.2_Missense_Mutation_p.I78F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	78					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACCAAGTTTATCCGGCGCCG	0.577000														26			15		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36992676	36992676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:36992676G>A	uc002xic.1	+	6	735	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	234					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAGCTTAGTGGAAGCCCCTCG	0.547000														39			35		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656659	40656659	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:40656659C>T	uc002rrx.3	-	0	786	c.762G>A	c.(760-762)agG>agA	p.R254R	SLC8A1_uc002rry.3_Silent_p.R254R|SLC8A1_uc002rsb.2_Silent_p.R254R|SLC8A1_uc002rrz.3_Silent_p.R254R|SLC8A1_uc002rsa.3_Silent_p.R254R|SLC8A1_uc002rsd.4_Silent_p.R254R|SLC8A1_uc010fan.1_Silent_p.R254R|SLC8A1_uc002rsc.1_Silent_p.R254R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	254	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.D253N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACAGAAGTCTCCTATCCGCTA	0.453000														49			49		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313734	25313734	+	Nonsense_Mutation	SNP	C	T	T	rs139395919	by1000genomes	TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:25313734C>T	uc001isi.4	+	2	1911	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Nonsense_Mutation_p.R528*	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	528					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AATCCCGATTCGAAAATTTAT	0.363000														51			28		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49031358	49031358	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:49031358G>T	uc001zwz.3	-	26	4414	c.4221C>A	c.(4219-4221)tgC>tgA	p.C1407*	CEP152_uc001zwy.3_Nonsense_Mutation_p.C1351*	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1351					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAGCTTGTTCGCACAGAGTTC	0.388000														51			39		1.30475e-32	1.32178e-32	1	1	0
ATG9B	285973	broad.mit.edu	37	7	150715110	150715110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:150715110G>A	uc011kvc.2	-	7	1976	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	634					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAGGAGCGGGGACAGGAGC	0.617000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			4		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656173	167656173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:167656173C>T	uc011cjq.1	-	9	1294	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D404N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D284N|SPOCK3_uc003iri.1_Missense_Mutation_p.D404N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D353N|SPOCK3_uc003irj.1_Missense_Mutation_p.D401N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D312N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D361N|SPOCK3_uc011cju.1_Missense_Mutation_p.D308N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D306N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	404	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		tcgtcttcatcatcctcatca	0.353000														19			7		0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130230109	130230109	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:130230109G>A	uc004brb.2	+	10	991	c.619_splice	c.e10+1	p.E207_splice	LRSAM1_uc010mxk.2_Splice_Site_p.E207_splice|LRSAM1_uc004brc.2_Splice_Site_p.E207_splice|LRSAM1_uc004brd.2_Splice_Site_p.E207_splice	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	207					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCTCTGCAAAGGTAAAGCCAG	0.632000														12			5		0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621867	99621867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:99621867C>T	uc003usk.1	+	2	736	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	ZKSCAN1_uc003usj.3_Missense_Mutation_p.H172Y|ZKSCAN1_uc003usl.1_Missense_Mutation_p.H137Y|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	173					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGACCTTCATCACGAGGCCAC	0.532000														49			31		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625237	142625237	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:142625237G>A	uc003wby.1	-	6	1119	c.855C>T	c.(853-855)tcC>tcT	p.S285S	TRPV5_uc003wbz.3_Silent_p.S285S	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	285					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTCTCCCCAGGAGTCGATCT	0.542000														53			36		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759103	6759103	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:6759103C>T	uc002wmu.1	+	2	1343	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	186					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACTCGAAATTCCCCGTGACCA	0.458000														34			30		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996983	62996983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:62996983G>A	uc001nwr.1	-	0	142	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R48C	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	48					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACCCAGCAGCGATGATCAAGT	0.468000														64			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070067	9070067	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:9070067G>A	uc002mkp.3	-	2	17583	c.17379C>T	c.(17377-17379)atC>atT	p.I5793I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5795	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						TCACAGTGTTGATCTCCTCAG	0.458000														30			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432386	179432386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179432386C>T	uc021vsy.1	-	274	70994	c.70769G>A	c.(70768-70770)aGa>aAa	p.R23590K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17285K|TTN_uc021vta.1_Missense_Mutation_p.R17218K|TTN_uc021vtb.1_Missense_Mutation_p.R17093K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24517	Fibronectin type-III 71.						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)			GAATTCATATCTTTGATCTTC	0.408000														28			21		0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:39305839A>T	uc002hwb.3	-	0	216	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	61	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667000														52			3		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129914209	129914209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:129914209G>A	uc001lke.3	-	6	658	c.463C>T	c.(463-465)Cct>Tct	p.P155S	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	155					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)				TGTACCTGAGGATTTCCTGAA	0.383000														45			30		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561409	44561409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:44561409G>A	uc003tlb.3	-	11	2911	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F	NPC1L1_uc011kbw.2_Missense_Mutation_p.S906F|NPC1L1_uc003tlc.3_Missense_Mutation_p.S952F|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	952					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATCCACCCAGGAGGAGGCAGG	0.607000														34			28		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13415253	13415253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:13415253C>T	uc003bxv.1	-	11	1635	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	NUP210_uc003bxx.3_Missense_Mutation_p.D190N	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	518					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCTGCACATCATGTGCCTGG	0.582000														41			43		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128870751	128870752	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:128870751_128870752GG>AA	uc002tps.3	+	5	793_794	c.615_616GG>AA	c.(613-618)gaggaa>gaAAaa	p.E206K	UGGT1_uc010fme.1_Missense_Mutation_p.E81K|UGGT1_uc002tpr.3_Missense_Mutation_p.E182K	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	206					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTGGCTCTGAGGAATTTTCCAA	0.351000														45			30		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652175	88652175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:88652175C>T	uc001xwm.3	-	6	1458	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	KCNK10_uc001xwn.3_Missense_Mutation_p.D446N|KCNK10_uc001xwo.3_Missense_Mutation_p.D441N	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	441					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ATGATGTTGTCCTCGGACGCA	0.547000														65			58		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092728	151092728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chrX:151092728C>T	uc022cgv.1	+	0	592	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	MAGEA4_uc004fez.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffa.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffb.3_Missense_Mutation_p.P198S|MAGEA4_uc022cgu.1_Missense_Mutation_p.P226S|MAGEA4_uc004ffc.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffd.3_Missense_Mutation_p.P198S	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	198	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATCTTTCCCAAGACAGG	0.557000														1			72		0	0	1	0	0
SYF2	25949	broad.mit.edu	37	1	25555608	25555608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:25555608C>T	uc001bjt.1	-	2	194	c.139G>A	c.(139-141)Gct>Act	p.A47T	SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Missense_Mutation_p.A47T	NM_015484	NP_056299	O95926	SYF2_HUMAN	Homo sapiens SYF2 homolog, RNA splicing factor (S. cerevisiae) (SYF2), transcript variant 1, mRNA.	47						catalytic step 2 spliceosome		p.E46A(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AATTTACGAGCTTCATTCTAA	0.383000														39			29		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442375	41442375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:41442375G>A	uc010ehg.1	+	2	421	c.413G>A	c.(412-414)gGa>gAa	p.G138E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G138E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TTCGGGATGGGAAAGCGGAGT	0.552000														18			16		0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165891000	165891000	+	Missense_Mutation	SNP	G	A	A	rs142627348		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:165891000G>A	uc003iqw.3	-	2	766	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	52						intracellular	zinc ion binding	p.P52L(2)		NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAAGGGGCAGGGGAAACTATC	0.453000														52			12		0	0	1	0	0
WFDC11	259239	broad.mit.edu	37	20	44278037	44278037	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:44278037C>T	uc002xpa.3	-	4	296	c.101_splice	c.e4-1	p.R34_splice		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	34						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ACAATTCCTTCCCTGAAATTG	0.388000														72			54		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:112608394T>C	uc002thi.3	-	13	1856	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(10)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000														103			3		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832255	12832255	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:12832255G>A	uc002gnr.4	+	6	801	c.474G>A	c.(472-474)caG>caA	p.Q158Q	ARHGAP44_uc010vvk.2_Silent_p.Q158Q|ARHGAP44_uc010vvl.2_Silent_p.Q158Q|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Silent_p.Q158Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	158	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGTGGCAGCAGACTTCCAAGT	0.512000														0			9		0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44181842	44181842	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:44181842G>A	uc002xow.3	-	4	598	c.519C>T	c.(517-519)atC>atT	p.I173I	WFDC8_uc002xox.3_Silent_p.I173I	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	173	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGGACAATCGATGTCACTGT	0.463000														40			43		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677985	48677985	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:48677985C>T	uc003cuf.1	-	35	9327	c.9327G>A	c.(9325-9327)ctG>ctA	p.L3109L	CELSR3_uc010hkf.3_Silent_p.L301L|CELSR3_uc010hkg.3_Silent_p.L994L|CELSR3_uc003cul.3_Silent_p.L3011L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3011					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCGGTTCTTCAGGATGCCTG	0.627000														8			7		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012721	189012721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:189012721G>A	uc011cle.1	-	7	1417	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	TRIML2_uc003izj.1_Missense_Mutation_p.L152F|TRIML2_uc003izk.1_Missense_Mutation_p.L132F|TRIML2_uc003izl.2_Missense_Mutation_p.L324F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	324							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCGCAGTCAAGGAAAACGCCA	0.532000														105			41		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112302	154112302	+	Silent	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:154112302A>G	uc001fdw.3	-	4	765	c.693T>C	c.(691-693)gtT>gtC	p.V231V	NUP210L_uc010peh.2_Silent_p.V231V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	231						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATGAATTCGAACTTTTACAA	0.363000														156			159		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670529	134670529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:134670529C>T	uc003eqt.3	+	2	815	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.S147F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	147						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGAGCTTCTCCCAGGTGGAC	0.493000														80			60		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547627	43547627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:43547627C>T	uc003tid.1	+	22	4368	c.3763C>T	c.(3763-3765)Cgc>Tgc	p.R1255C	HECW1_uc011kbi.1_Missense_Mutation_p.R1221C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1255					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTCATTATTCGCCGGGATCA	0.517000														39			27		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598616	85598616	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:85598616A>G	uc010ysn.2	+	7	880	c.538A>G	c.(538-540)Aag>Gag	p.K180E	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spf.4_Missense_Mutation_p.K180E|ELMOD3_uc002spg.4_Missense_Mutation_p.K180E|ELMOD3_uc002sph.4_Missense_Mutation_p.K180E|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Intron	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	180	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GACCATCTATAAGAAGCTGAC	0.552000														45			37		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48137388	48137388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:48137388C>T	uc001rpz.4	-	17	2300	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	RAPGEF3_uc001rpw.3_5'Flank|RAPGEF3_uc001rpx.3_5'UTR|RAPGEF3_uc010sln.2_Intron|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.E542K|RAPGEF3_uc009zkq.3_Missense_Mutation_p.E542K	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	542					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCCATCACCTCTCTCACGGAG	0.607000														64			42		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348630	216348630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:216348630G>A	uc001hku.1	-	20	4978	c.4591C>T	c.(4591-4593)Ccc>Tcc	p.P1531S	USH2A_uc001hkv.3_Missense_Mutation_p.P1531S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1531	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P1531L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGAGCTGGGAAATTTACAA	0.403000										HNSCC(13;0.011)				18			14		0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6459558	6459558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:6459558G>A	uc002mex.1	-	0	224	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SLC25A23_uc002mev.3_Non-coding_Transcript	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	28	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACGTCCACGCGGCCATCCTTG	0.756000														39			37		0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969160	118969160	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:118969160G>A	uc001pvi.3	-	4	1101	c.681C>T	c.(679-681)ttC>ttT	p.F227F	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Silent_p.F120F|DPAGT1_uc001pvk.3_Silent_p.F55F|DPAGT1_uc001pvm.1_Silent_p.F120F|DPAGT1_uc010rza.2_Silent_p.F120F	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	227					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups	p.F227F(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGGGTATCATGAAGTAGAGGG	0.443000														58			30		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170346460	170346460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:170346460C>T	uc003mba.3	+	10	1259	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	373					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGAATTTGCTCCTAACAGTGT	0.323000			T	TRD@	ALL									31			27		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653314	55653314	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:55653314G>A	uc010rip.2	+	2	503	c.411_splice	c.e2+1	p.R137_splice	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	137						intracellular	zinc ion binding										GAGGAACGCCGGGTAAGTGAT	0.488000														13			12		0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21049315	21049315	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:21049315C>T	uc009vpy.1	-	8	1504	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V	SH2D5_uc001bdt.1_Silent_p.V250V|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	250										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTGCGTGCGCACGGACAGAC	0.692000														7			3		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653743	3653743	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:3653743G>A	uc002fwo.4	-	15	2026	c.1927C>T	c.(1927-1929)Cag>Tag	p.Q643*		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	643					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGAAGTACTGGAGTCCTGGG	0.627000														2			29		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564545	94564545	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:94564545G>A	uc001dqh.3	-	5	677	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ABCA4_uc010otn.1_Silent_p.F191F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	191					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCATGAGCGAACTGCAGGG	0.587000														14			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587872	179587872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179587872C>T	uc021vsy.1	-	71	18355	c.18130G>A	c.(18130-18132)Gaa>Aaa	p.E6044K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2705K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6971	Ig-like 41.						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)			TTCAGAATTTCCAGGATACAA	0.393000														11			6		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577107	158577107	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:158577107G>A	uc010pio.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATAGTCTAAGGAATAGGGCTA	0.463000														111			104		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914025	28914025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr18:28914025G>A	uc002kwp.3	+	7	1077	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	289	Cadherin 3.				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)			AAATTTGCTCGAGATTAGAGT	0.328000														52			24		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769633	50769633	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:50769633G>A	uc002xwl.3	-	5	1447	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.C364C|ZFP64_uc002xwn.3_Silent_p.C312C	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCGGTCGGTGCAGTGGATAC	0.577000														78			73		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011768	34011768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:34011768C>T	uc001bxm.1	-	56	9146	c.8969G>A	c.(8968-8970)cGt>cAt	p.R2990H	CSMD2_uc001bxn.1_Missense_Mutation_p.R2846H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2963	Sushi 22.					integral to membrane|plasma membrane	protein binding	p.R2846H(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)				GTCCCCCAAACGGATGCCATG	0.567000														27			19		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209609	19209609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr22:19209609G>A	uc021wle.1	-	15	2501	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	CLTCL1_uc021wld.1_Missense_Mutation_p.P809L|CLTCL1_uc021wlc.1_Missense_Mutation_p.P809L|CLTCL1_uc021wlf.1_Missense_Mutation_p.P809L|CLTCL1_uc011agw.1_Missense_Mutation_p.P809L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	809	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGTCCGGCTAGGGTTGACCTA	0.473000			T	?	ALCL									115			92		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43011351	43011351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:43011351G>A	uc003otq.3	-	16	3522	c.3190C>T	c.(3190-3192)Ccc>Tcc	p.P1064S	CUL7_uc010jyg.3_Missense_Mutation_p.P343S|CUL7_uc011dvb.2_Missense_Mutation_p.P1148S|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1064					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAACCCAGGGGGCTAATGCCA	0.587000														9			10		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190571836	190571836	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:190571836A>T	uc002uqw.2	+	8	2171	c.2083A>T	c.(2083-2085)Aat>Tat	p.N695Y	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	695						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			aataaaattaaatattCCTGA	0.289000														4			6		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100847495	100847495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:100847495C>T	uc003yiv.3	+	52	9871	c.9760C>T	c.(9760-9762)Cga>Tga	p.R3254*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.R3229*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3254					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTAGTCCTCGAGTAATTAT	0.343000														26			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566486	55566486	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:55566486C>T	uc010qhq.2	-	34	5291	c.4896G>A	c.(4894-4896)ctG>ctA	p.L1632L	PCDH15_uc010qhr.2_Silent_p.L1627L	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1631V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGCTTTTCAGCCTGTTCC	0.443000										HNSCC(58;0.16)				74			94		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32948438	32948438	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:32948438C>T	uc010juh.3	+	12	3758	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	BRD2_uc003ocn.4_Silent_p.S783S|BRD2_uc003ocp.4_Silent_p.S663S|BRD2_uc003ocq.4_Silent_p.S783S|BRD2_uc021ywf.1_Silent_p.S736S	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	783					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GCTCAGATTCCAGCTCCTCCT	0.552000														45			38		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140337	178140337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:178140337G>A	uc003mjj.3	-	4	740	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	181					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTTTTCTCTGGGAAGTATCTG	0.358000														112			84		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	823261	823261	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:823261G>A	uc002cjz.1	-	9	2007	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	318					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGTGCACCAGGAAGAGGTCGT	0.647000														57			44		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185330413	185330413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:185330413G>A	uc003fpn.3	+	8	1007	c.836G>A	c.(835-837)aGg>aAg	p.R279K	SENP2_uc011brv.2_Missense_Mutation_p.R269K|SENP2_uc011brw.2_Missense_Mutation_p.R92K	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	279					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTTGAAACAAGGGGACCTCTA	0.308000														13			15		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578530	7578530	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:7578530A>G	uc002gim.2	-	4	594	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	TP53_uc002gig.1_Missense_Mutation_p.F134L|TP53_uc002gih.3_Missense_Mutation_p.F134L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F2L|TP53_uc010cnf.1_Missense_Mutation_p.F2L|TP53_uc002gii.1_Missense_Mutation_p.F2L|TP53_uc010cni.1_Missense_Mutation_p.F134L|TP53_uc010cnh.1_Missense_Mutation_p.F134L|TP53_uc002gij.2_Missense_Mutation_p.F134L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.F41L|TP53_uc002gio.2_Missense_Mutation_p.F2L|TP53_uc010vug.2_Missense_Mutation_p.F95L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	134	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F134L(33)|p.F134V(22)|p.M133K(12)|p.0?(8)|p.F134C(6)|p.M133R(5)|p.C135fs*35(5)|p.M133fs*37(4)|p.M133fs*36(4)|p.M133I(3)|p.F134S(3)|p.K132_A138delKMFCQLA(2)|p.M133T(2)|p.M133V(2)|p.N131fs*27(2)|p.M133fs*13(2)|p.S127_Q136del10(2)|p.M133L(2)|p.F134fs*39(2)|p.F134F(1)|p.F134_T140>S(1)|p.F41V(1)|p.C135T(1)|p.F41L(1)|p.V73fs*9(1)|p.Y126fs*11(1)|p.L130_M133delLNKM(1)|p.F2V(1)|p.?(1)|p.K132_M133del(1)|p.M133fs*16(1)|p.F2L(1)|p.F134fs*14(1)|p.S127fs*36(1)|p.M40fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTTGGCAAAACATCTTGTTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				1			17		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189611994	189611994	+	Splice_Site	SNP	G	A	A	rs113056519		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:189611994G>A	uc003fry.2	+	14	1836	c.1747_splice	c.e14-1	p.D583_splice	TP63_uc003frz.2_Splice_Site_p.R551_splice|TP63_uc010hzc.1_Splice_Site_p.R503_splice|TP63_uc003fsc.2_Splice_Site_p.D489_splice|TP63_uc003fsd.2_Splice_Site_p.R457_splice|TP63_uc021xir.1_Splice_Site_p.R409_splice|TP63_uc010hzd.1_Splice_Site_p.D404_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	583	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGTTGCACAGGATCTGGCAA	0.493000										HNSCC(45;0.13)				26			32		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886782	55886782	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:55886782C>T	uc010spo.2	+	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CCTTTATTATCACTCTTGTAT	0.348000														14			10		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:113676334C>T	uc002tij.3	+	4	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000														47			19		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367117	105367117	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:105367117C>T	uc003ylx.1	+	2	1091	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	348					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											ACAAGGAACTCAAGATATTAT	0.368000														11			9		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101652	168101652	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:168101652G>A	uc002udx.3	+	8	3839	c.3750G>A	c.(3748-3750)aaG>aaA	p.K1250K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1075K|XIRP2_uc010fpq.3_Silent_p.K1028K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1075					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATTGATAAGATAAAAGAAA	0.338000														28			29		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091511	74091511	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr18:74091511G>A	uc021ulp.1	-	3	2877	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCACTCCCAGGGGAGAAGAGC	0.627000														81			47		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7572147	7572147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:7572147G>A	uc003mxp.1	+	14	2255	c.1976G>A	c.(1975-1977)aGa>aAa	p.R659K	DSP_uc003mxq.1_Missense_Mutation_p.R659K|DSP_uc021yle.1_Missense_Mutation_p.R659K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	659	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAACCAACAGAGAAAATGAC	0.433000														45			41		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45661694	45661694	+	Missense_Mutation	SNP	G	A	A	rs147804855		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:45661694G>A	uc001zvc.3	-	2	643	c.314C>T	c.(313-315)cCa>cTa	p.P105L	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.P158L	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	105					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CTGGTAAAATGGCCAGTACTT	0.363000														19			12		0	0	1	0	0
TIPIN	54962	broad.mit.edu	37	15	66641432	66641432	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:66641432G>A	uc002apr.2	-	5	527	c.441C>T	c.(439-441)ctC>ctT	p.L147L	TIPIN_uc010ujn.1_Silent_p.L46L|TIPIN_uc010ujo.1_Silent_p.L46L|SCARNA14_uc010bhp.1_5'Flank	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	147					DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						GTAAAATAGGGAGATCAAGTC	0.303000														16			5		0	0	1	0	0
FLJ00285	0	broad.mit.edu	37	16	15204364	15204364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:15204364G>A	uc002ddh.2	-	12	2407	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		TCGAACCTTGGTTTCCACCTG	0.393000														79			58		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656898	49656898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:49656898C>T	uc002pmv.3	-	0	1784	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	533					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcttcctcctcctGGTTCAGG	0.587000														14			12		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110370892	110370892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:110370892G>A	uc001tps.2	-	19	2336	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.S694L|GIT2_uc001tpv.2_Missense_Mutation_p.S646L|GIT2_uc001tpu.2_Missense_Mutation_p.S644L|GIT2_uc001tpt.2_Missense_Mutation_p.S596L|GIT2_uc010sxu.1_Missense_Mutation_p.S632L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	724					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTCTGTGGGTGAGCCGGGGTc	0.577000														15			22		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607989	68607989	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:68607989G>A	uc002sen.4	+	2	495	c.333G>A	c.(331-333)agG>agA	p.R111R	PLEK_uc010fde.3_Silent_p.R111R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	111					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.A110D(1)|p.A110T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTTGCCAGGAAATCTACCA	0.463000														84			63		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140992371	140992371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:140992371C>T	uc002tvj.1	-	89	14615	c.13643G>A	c.(13642-13644)gGa>gAa	p.G4548E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4548					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)		agttagtggtcctttcaaatc	0.443000										TSP Lung(27;0.18)				21			9		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885791	88885791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:88885791G>A	uc003ydz.3	-	0	506	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	137										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAATCCAAGTGATTCAGTGAG	0.567000														58			62		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940223	36940223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:36940223G>A	uc010xtf.2	-	4	1051	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	ZNF566_uc002oea.4_Missense_Mutation_p.H305Y|ZNF566_uc010xte.2_Missense_Mutation_p.H305Y|ZNF566_uc002oeb.4_Missense_Mutation_p.H305Y|ZNF566_uc002oec.4_Missense_Mutation_p.H201Y|ZNF566_uc010xtg.2_Missense_Mutation_p.H201Y	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCCCAGTATGAATTCTCTGA	0.408000														55			49		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2894600	2894600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:2894600G>A	uc010ckd.3	+	11	913	c.823G>A	c.(823-825)Gag>Aag	p.E275K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E260K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	275	Rap-GAP.				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						GACCCTGGAGGAGGAGCTATT	0.473000														0			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759756	196759756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:196759756C>T	uc002utj.4	-	29	4941	c.4840G>A	c.(4840-4842)Gga>Aga	p.G1614R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1614	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G1614R(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAGTTTTTCCTCCAAATGGT	0.318000														14			20		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90032355	90032355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:90032355C>T	uc002fpn.2	+	12	1656	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L	DEF8_uc002fpo.2_Missense_Mutation_p.P447L|DEF8_uc002fpp.2_Missense_Mutation_p.P437L|DEF8_uc021tmv.1_Missense_Mutation_p.P447L|DEF8_uc010vpq.2_Missense_Mutation_p.P387L|DEF8_uc010vpr.2_Missense_Mutation_p.P430L|DEF8_uc002fpq.2_Missense_Mutation_p.P205L	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	508					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GAGCCAGGTCCCGATGTGGAG	0.637000														16			14		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394705	86394705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:86394705G>A	uc003uid.3	+	1	1343	c.244G>A	c.(244-246)Gat>Aat	p.D82N	GRM3_uc010lef.3_Missense_Mutation_p.D80N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	82					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)	AATCAACAAAGATGATTACTT	0.443000														77			55		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148742246	148742246	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:148742246C>T	uc003lqk.2	+	1	197	c.135C>T	c.(133-135)ctC>ctT	p.L45L	PCYOX1L_uc003lql.2_Silent_p.L28L|PCYOX1L_uc010jgz.2_Silent_p.L28L|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_5'UTR	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	45					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATTTTCTCCAGCAGCACT	0.587000														3			58		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219633	4219633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:4219633G>A	uc010dtt.1	+	18	3325	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1017										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACACGCAGCCGAGGCACAGCT	0.642000														82			59		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539219	56539219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:56539219G>A	uc002qmj.3	+	6	1620	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	NLRP5_uc002qmi.3_Nonsense_Mutation_p.W521*	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	540	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGGGAGTGTGGAATAGGAAGT	0.552000														16			16		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128922363	128922363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:128922363C>T	uc002tps.3	+	25	3063	c.2885C>T	c.(2884-2886)cCa>cTa	p.P962L	UGGT1_uc010fme.1_Missense_Mutation_p.P837L|UGGT1_uc002tpr.3_Missense_Mutation_p.P938L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	962					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAAGGAGATCCAAGAATCGAG	0.368000														32			22		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26168438	26168438	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr22:26168438C>T	uc003abz.1	+	6	2080	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V	MYO18B_uc003aca.1_Silent_p.V491V|MYO18B_uc010guy.1_Silent_p.V491V|MYO18B_uc010guz.1_Silent_p.V491V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V123V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	610	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCTGATTGTCCTCCAGCCCC	0.637000														32			29		0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	206992629	206992629	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:206992629C>A	uc010ziq.2	-	15	1879	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	NDUFS1_uc002vbe.3_Missense_Mutation_p.K592N|NDUFS1_uc010zir.2_Missense_Mutation_p.K556N|NDUFS1_uc010zis.2_Missense_Mutation_p.K535N|NDUFS1_uc010zit.2_Missense_Mutation_p.K481N|NDUFS1_uc010ziu.2_Missense_Mutation_p.K476N	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	592					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATGTAGCAGACTTCTCTGTGT	0.458000														56			3		0.115264	0.115562	1	1	0
TMEM109	79073	broad.mit.edu	37	11	60689555	60689555	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:60689555G>C	uc001nqg.3	+	3	1028	c.650G>C	c.(649-651)cGa>cCa	p.R217P	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	217						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCAAGGTGCGAGGGCTGGAA	0.706000														18			7		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090782	34090782	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:34090782C>T	uc021wco.1	+	29	5232	c.4585C>T	c.(4585-4587)Cta>Tta	p.L1529L	CEP250_uc010zve.2_Silent_p.L897L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1529	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCATCAGCTTCTAGAACTTGA	0.522000														44			27		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959017	78959017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:78959017G>A	uc001din.3	+	1	855	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PTGFR_uc001dim.3_Missense_Mutation_p.E197K	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	197					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CAAAGACTGGGAAGATAGATT	0.403000														27			46		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169455	113169455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:113169455C>T	uc010mtz.3	-	37	8762	c.8425G>A	c.(8425-8427)Ggc>Agc	p.G2809S	SVEP1_uc010mty.3_Missense_Mutation_p.G735S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2809	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTCAGTGCCATTCAGCACA	0.488000														100			90		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495526	161495526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:161495526G>A	uc001gaq.3	+	0	1491	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	360					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAACGGCAAGGAGCTGAACAA	0.577000														15			16		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	558970	558970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:558970G>A	uc001lpx.3	-	1	107	c.44C>T	c.(43-45)tCg>tTg	p.S15L	AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	15										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACTGACCGACTCTTGCTC	0.652000														0			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585769	179585769	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179585769G>A	uc021vsy.1	-	75	19470	c.19245C>T	c.(19243-19245)ttC>ttT	p.F6415F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F3076F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7342	Ig-like 45.						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)			CAGAATTAATGAATGACATGT	0.423000														48			29		0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70916829	70916829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:70916829G>A	uc001jpb.3	+	3	422	c.296G>A	c.(295-297)gGa>gAa	p.G99E	VPS26A_uc001jpc.3_Missense_Mutation_p.G99E|VPS26A_uc009xqa.3_Missense_Mutation_p.G92E|VPS26A_uc001jpd.3_5'UTR	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	99					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCTTACCTGGAGAACTGACT	0.348000														38			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692188	13692188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:13692188C>T	uc003jfd.2	-	78	13822	c.13780G>A	c.(13780-13782)Gac>Aac	p.D4594N	DNAH5_uc003jfc.2_Missense_Mutation_p.D762N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4594					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)					TAGTTCAAGTCCGTTCGAACT	0.463000									Kartagener syndrome					35			27		0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4060651	4060651	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:4060651A>C	uc003mvv.3	+	14	2916	c.2825A>C	c.(2824-2826)aAa>aCa	p.K942T	PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	942	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTTAGGAGAAAGTTACTGTT	0.338000														22			18		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127911958	127911958	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:127911958G>A	uc010mwv.3	-	7	1244	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	PPP6C_uc004bpg.4_Silent_p.F304F|PPP6C_uc010mww.3_Silent_p.F282F|PPP6C_uc011lzr.2_Silent_p.F157F	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	304					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GGCCTCAAAGGAAATATGGCG	0.418000														82			35		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302906	58302906	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:58302906T>A	uc002aex.3	-	3	707	c.434A>T	c.(433-435)aAa>aTa	p.K145I	ALDH1A2_uc010ugv.2_Missense_Mutation_p.K124I|ALDH1A2_uc002aey.3_Missense_Mutation_p.K145I|ALDH1A2_uc010ugw.2_Missense_Mutation_p.K116I|ALDH1A2_uc002aew.3_Missense_Mutation_p.K49I	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	145					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAAAGGTTTTGATGACGCC	0.423000														15			13		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599814	29599814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr13:29599814G>A	uc001usl.4	+	0	1067	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	327						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGAAAGGCAGCCCAGGAAGG	0.542000														37			29		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161577159	161577159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:161577159G>A	uc010pkp.1	+	0	1311	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		CAACGGCAAGGAGCTGAACAA	0.572000														23			7		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134379613	134379613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:134379613G>A	uc004cav.3	+	1	210	c.8G>A	c.(7-9)gGa>gAa	p.G3E	POMT1_uc011mci.1_Missense_Mutation_p.G3E|POMT1_uc004cax.3_Missense_Mutation_p.G3E|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Missense_Mutation_p.G3E|POMT1_uc004caw.3_Intron|POMT1_uc011mck.2_Intron|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Missense_Mutation_p.G3E	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	3					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAGATGTGGGGATTTTTGAAG	0.582000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			59		0	0	1	0	0
PHF6	84295	broad.mit.edu	37	X	133551267	133551267	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chrX:133551267C>T	uc004exj.3	+	8	1105	c.903C>T	c.(901-903)taC>taT	p.Y301Y	PHF6_uc004exk.3_Silent_p.Y301Y|PHF6_uc011mvk.2_Silent_p.Y267Y|PHF6_uc004exi.3_Silent_p.Y302Y	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.Y301fs*1(2)|p.Y301*(2)|p.T300A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TTAAGACTTACCATTACCACT	0.358000			"""F, N, Splice, Mis"""		ETP ALL									0			32		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720152	160720152	+	Silent	SNP	C	T	T	rs144271994		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:160720152C>T	uc001fwq.3	+	3	723	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SLAMF7_uc010pjn.2_Silent_p.L142L|SLAMF7_uc001fws.3_Silent_p.L129L|SLAMF7_uc001fwr.3_Silent_p.L236L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	236					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTGCCCCTCCTGCTCAGTC	0.502000														98			87		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232100035	232100035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:232100035C>T	uc002vrq.4	+	7	833	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	ARMC9_uc002vrp.4_Missense_Mutation_p.L241F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	241							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTACCACAATCTCATTGGAGT	0.488000														30			23		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105173	14105173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:14105173G>A	uc001avi.3	+	7	1739	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.E295K|PRDM2_uc021ogk.1_Missense_Mutation_p.E58K|PRDM2_uc001avk.3_Missense_Mutation_p.E94K|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	295	Asp/Glu-rich (acidic).|Retinoblastoma protein binding.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		cgagggggaagaagaAGCCAG	0.438000														25			22		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652489	1652489	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:1652489G>A	uc002qxa.3	-	16	3127	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1021					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCGCACCCACGATCTTCCTGG	0.617000														8			15		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139368510	139368510	+	Silent	SNP	G	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:139368510G>C	uc004chx.3	-	2	3867	c.3558C>G	c.(3556-3558)ctC>ctG	p.L1186L	SEC16A_uc004chv.4_Silent_p.L576L|SEC16A_uc004chw.3_Silent_p.L1186L|SEC16A_uc010nbn.3_Silent_p.L1186L|SEC16A_uc010nbo.1_Silent_p.L1186L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1008	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGGTAATAGAGGGAGGCTG	0.522000														2			30		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778306	111778306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:111778306G>A	uc001eam.3	+	5	597	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	CHI3L2_uc001ean.3_Missense_Mutation_p.E166K|CHI3L2_uc001eao.3_Missense_Mutation_p.E97K	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	176					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.E176K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATCCACCAAGGAAAGGCTTCT	0.448000														49			27		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59852045	59852045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:59852045G>A	uc003xtw.1	-	2	448	c.227C>T	c.(226-228)cCt>cTt	p.P76L		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	76						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)				TGGGAGGGAAGGAGGAGTAAT	0.458000														45			31		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	898519	898519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:898519G>A	uc003gbm.4	-	4	630	c.431C>T	c.(430-432)tCg>tTg	p.S144L	GAK_uc003gbn.4_Missense_Mutation_p.S65L|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.S8L	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	144	Protein kinase.		S -> L.		cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S144L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGTGTCGCACGAAAGGGGGCC	0.552000														0			19		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134384356	134384356	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:134384356C>A	uc004cav.3	+	5	688	c.486C>A	c.(484-486)ttC>ttA	p.F162L	POMT1_uc011mci.1_Intron|POMT1_uc004cax.3_Missense_Mutation_p.F162L|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Missense_Mutation_p.F162L|POMT1_uc004caw.3_Missense_Mutation_p.F108L|POMT1_uc011mck.2_Missense_Mutation_p.F45L|POMT1_uc011mcl.2_Missense_Mutation_p.F10L|POMT1_uc011mcm.2_Missense_Mutation_p.F132L	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	162					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAATATTTTTCAATCTATTGG	0.393000														3			33		2.1956e-27	2.21847e-27	1	1	0
abParts	0	broad.mit.edu	37	14	106518643	106518644	+	RNA	DNP	GG	AA	AA	rs113025074		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:106518643_106518644GG>AA	uc021ser.1	-	2195		c.39309_39310CC>TT								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAGG	0.594000														116			96		0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20915794	20915794	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:20915794C>T	uc001vxf.3	-	8	1274	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	283					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TAGCAAAAAGCCGGGCTCCAC	0.433000														17			27		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501671	140501671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:140501671C>T	uc003lip.1	+	0	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTATTCGTTATTCTGT	0.527000														1			33		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701266	192701266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:192701266C>T	uc002utb.3	-	1	1016	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	221						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCCACCTTTTCCTCGGCACTG	0.483000														72			63		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272404	158272404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:158272404C>T	uc002tzj.1	-	7	937	c.865G>A	c.(865-867)Gag>Aag	p.E289K	CYTIP_uc010zcl.1_Missense_Mutation_p.E183K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	289	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCATCCCCCTCCTTGGGGATA	0.542000														48			37		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725546	41725546	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr21:41725546C>T	uc002yyq.1	-	4	1232	c.780G>A	c.(778-780)aaG>aaA	p.K260K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	260	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCATGTTGTCCTTCAGCCAGC	0.582000														23			25		0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143348	61143348	+	RNA	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:61143348C>T	uc002ycy.3	-	4		c.1333G>A			C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA.																		AGGGCCCTCCCCTGGACAAGG	0.682000														13			12		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146271487	146271487	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:146271487C>A	uc003qlf.3	-	3	1294	c.895G>T	c.(895-897)Gca>Tca	p.A299S	SHPRH_uc003qle.3_Missense_Mutation_p.A299S|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.A188S	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	299					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGGATCAATGCAGGATGCTGG	0.463000														72			53		1.14385e-22	1.15277e-22	1	1	0
MLL	4297	broad.mit.edu	37	11	118362611	118362611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:118362611C>T	uc001pta.3	+	14	4986	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W	MLL_uc001ptb.3_Missense_Mutation_p.R1658W|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1655					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.S1654F(1)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTTGAATTCTCGGACTACCAG	0.468000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									13			14		0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3784181	3784181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:3784181G>A	uc002wjn.3	+	13	2265	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	CDC25B_uc010zqk.2_Missense_Mutation_p.R432H|CDC25B_uc010zql.2_Missense_Mutation_p.R418H|CDC25B_uc010zqm.2_Missense_Mutation_p.R405H|CDC25B_uc002wjl.3_Missense_Mutation_p.R384H|CDC25B_uc002wjm.3_Missense_Mutation_p.R384H|CDC25B_uc021waa.1_Missense_Mutation_p.R343H|CDC25B_uc002wjo.3_Missense_Mutation_p.R482H|CDC25B_uc002wjp.3_Missense_Mutation_p.R455H|CDC25B_uc002wjq.3_Missense_Mutation_p.R296H	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	496	Rhodanese.				G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CGTGGGCCCCGCATGTGAGTC	0.612000														98			3		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601998	135601998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:135601998C>T	uc003lbn.2	-	4	1477	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	TRPC7_uc010jef.2_Missense_Mutation_p.E355K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.E358K|TRPC7_uc010jei.2_Missense_Mutation_p.E303K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	419					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAAGGTTTCGTTTGGCAGG	0.398000														3			49		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73829377	73829377	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:73829377G>A	uc001ouu.2	-	8	1643	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	C2CD3_uc001ouv.2_Silent_p.V472V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	472						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTTAGAAGGGACGATATCAT	0.423000														42			21		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351974	10351974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:10351974G>A	uc002gmn.3	-	31	4603	c.4492C>T	c.(4492-4494)Cat>Tat	p.H1498Y	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1498					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.H1498D(2)		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						GTTTCAAGATGATCCAGGGAT	0.428000														4			56		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78449574	78449574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:78449574C>T	uc001ozl.4	-	19	3261	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	933					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAGGGGGGTTCCATCTGATGT	0.473000														15			23		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:28509498C>T	uc002dqb.2	+	2	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000														9			4		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399065	57399065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:57399065C>T	uc001cyp.3	-	9	1562	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	C8B_uc010oon.2_Missense_Mutation_p.E437K|C8B_uc010ooo.2_Missense_Mutation_p.E447K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	499	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.E499K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAACTAACTTCCTTCTGGAAC	0.527000														33			23		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568560	55568560	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:55568560C>T	uc021pqw.1	-	35	5654	c.5259G>A	c.(5257-5259)caG>caA	p.Q1753Q	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.Q1748Q|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.I1753V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACCTCCAGACTGACTTTCGC	0.498000										HNSCC(58;0.16)				4			9		0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27896362	27896362	+	Silent	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:27896362A>G	uc002hee.3	+	2	206	c.168A>G	c.(166-168)cgA>cgG	p.R56R	ABHD15_uc002hed.2_5'Flank	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	56						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCTACACACGAGTGAGCCCAG	0.612000														12			2		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39934218	39934218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:39934218G>A	uc002rrt.3	+	2	624	c.544G>A	c.(544-546)Ggc>Agc	p.G182S	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Intron	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	182						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				TGGCTTCCTCGGCATGGCCGT	0.483000														28			35		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111668626	111668626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:111668626C>T	uc004bdm.4	-	13	2120	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	IKBKAP_uc004bdl.3_Missense_Mutation_p.A185T|IKBKAP_uc011lwc.2_Missense_Mutation_p.A420T|IKBKAP_uc010mtq.3_Missense_Mutation_p.A185T	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	534					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCAGAAGAAGCTGCAGTCAAA	0.468000														67			56		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43855019	43855019	+	Missense_Mutation	SNP	G	A	A	rs145463901		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr21:43855019G>A	uc002zbe.3	+	9	1432	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	UBASH3A_uc002zbf.3_Missense_Mutation_p.D412N|UBASH3A_uc010gpe.3_Missense_Mutation_p.D412N|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	450	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTTGAAAACGATCCCCCATT	0.433000														49			52		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20774298	20774298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:20774298C>T	uc001reh.2	+	4	1533	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	PDE3A_uc021qwa.1_Missense_Mutation_p.A176V	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	498					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCATCCTATGCTATTTCTGCA	0.398000														21			18		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994493	72994493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:72994493G>A	uc003hgg.2	+	1	589	c.491G>A	c.(490-492)gGa>gAa	p.G164E	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.G65E|NPFFR2_uc003hgh.2_Missense_Mutation_p.G62E	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	164					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGCATGATGGGAAATACTGTG	0.363000														41			53		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461443	76461443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:76461443G>A	uc002fex.1	+	2	633	c.494G>A	c.(493-495)tGg>tAg	p.W165*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.W161*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.W74*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.W137*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.W137*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTTTGGAATGGAACCCCAAG	0.408000														30			27		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679270	7679270	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:7679270G>A	uc021pmv.1	-	4	679	c.573C>T	c.(571-573)atC>atT	p.I191I	ITIH5_uc001ijr.2_Silent_p.I191I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	191					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I191I(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCTCCAGGATATTCACGT	0.652000														39			54		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272727	186272727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:186272727G>A	uc003fqg.3	-	4	1135	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	TBCCD1_uc011bry.2_Missense_Mutation_p.R336C|TBCCD1_uc003fqh.3_Missense_Mutation_p.R240C	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	336	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCGTTGCAACGATGAATCTTT	0.468000														56			43		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233834931	233834931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:233834931C>T	uc002vts.2	-	2	624	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	126	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TACCTCATTTCCTGGGCTCCT	0.498000														40			29		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772304	97772304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:97772304G>A	uc010qop.2	+	4	368	c.136G>A	c.(136-138)Gag>Aag	p.E46K	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.E46K	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	46										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGATCAAACAGAGGTCTTGCA	0.313000														15			10		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927082	151927082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:151927082G>A	uc003wla.3	-	17	3121	c.2902C>T	c.(2902-2904)Caa>Taa	p.Q968*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q29*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	968					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.G967C(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTGCTCCTTGGCCAAAACTG	0.348000			N		medulloblastoma									401			37		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42368155	42368155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:42368155G>A	uc001wvm.3	+	4	3332	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LRFN5_uc010ana.3_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	712						integral to membrane		p.E712*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATTGTCCAGGAAACACAGGT	0.279000										HNSCC(30;0.082)				53			38		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69237038	69237038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:69237038C>T	uc003dnv.2	-	18	2092	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.R253Q|FRMD4B_uc011bga.1_Missense_Mutation_p.R445Q	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	601						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGAACTTGATCGCTGCCCAGG	0.383000														5			4		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126128626	126128626	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:126128626C>T	uc004bnx.1	+	3	827	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CRB2_uc004bnw.1_Silent_p.F245F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	245	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGGGAGCTTCCGCTGCCTCT	0.736000														18			10		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754581	93754581	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:93754581T>G	uc001pep.2	+	0	204	c.47T>G	c.(46-48)cTg>cGg	p.L16R		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	16					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.F15L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTCACATTCCTGGGTCTGTCT	0.502000														46			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:179440352A>C	uc021vsy.1	-	274	63028	c.62803T>G	c.(62803-62805)Tgt>Ggt	p.C20935G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21862	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438000														57			9		0	0	1	0	0
GADD45B	4616	broad.mit.edu	37	19	2477183	2477183	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:2477183C>T	uc002lwb.2	+	2	537	c.303C>T	c.(301-303)ctC>ctT	p.L101L	GADD45B_uc002lwc.1_Silent_p.L86L	NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	101					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGCAGCTCCTGGGAGAGC	0.662000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			33		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144672257	144672257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:144672257G>A	uc003yyq.2	-	0	374	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	EEF1D_uc003yyp.2_5'Flank|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Intron|EEF1D_uc003yyr.3_Intron|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTCATCTTCCGGACACAGCGA	0.657000														39			35		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272156	164272156	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:164272156A>G	uc003iqn.3	+	3	913	c.731A>G	c.(730-732)aAc>aGc	p.N244S	NPY5R_uc021xtw.1_Missense_Mutation_p.N244S	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	244					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGATTGTCCAACAAAGAAAAC	0.383000														55			20		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727950	69727950	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:69727950C>T	uc002exm.2	+	11	4504	c.4168C>T	c.(4168-4170)Caa>Taa	p.Q1390*	NFAT5_uc002exj.2_Nonsense_Mutation_p.Q1314*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q1314*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q1408*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q1407*|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q1314*	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1390					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGTATAAATCAACAAGATAT	0.443000														47			34		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1284223	1284223	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:1284223G>A	uc009xhq.3	-	4	1658	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	444	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGTGTAGAGGAAGTGCAGGA	0.706000														14			3		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72549780	72549781	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:72549780_72549781GG>AA	uc002auc.3	-	12	1366	c.907_splice	c.e12-1	p.P303_splice	PARP6_uc002aua.3_Splice_Site_p.P148_splice|PARP6_uc002aub.3_Splice_Site|PARP6_uc002aud.4_Splice_Site|PARP6_uc002auf.1_Splice_Site_p.P303_splice	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	303							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACAGACAGCTGGCTGAAAGGAT	0.515000														67			31		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108635019	108635019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:108635019C>T	uc003dxj.2	-	2	465	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E133K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	133	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGATGAATTCTTCAGGACTC	0.403000														68			59		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196336	102196336	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:102196336G>A	uc003dvt.1	+	10	1270	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	ZPLD1_uc003dvs.1_Silent_p.L374L|ZPLD1_uc011bhg.1_Silent_p.L374L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	374						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCAGCGCACTGATATCAGGAA	0.468000														101			109		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:48919933C>T	uc010slu.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000														58			53		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047337	42047337	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:42047337G>A	uc001cgz.4	-	3	4345	c.3132C>T	c.(3130-3132)ttC>ttT	p.F1044F	HIVEP3_uc001cha.4_Silent_p.F1044F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1044	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCTCACCAAGAAGCATTTTC	0.582000														28			23		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:110457059G>A	uc003yne.3	+	37	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1654					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)			TTTGATAGGCGATTTGTACTT	0.433000										HNSCC(38;0.096)				125			112		0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78082696	78082696	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:78082696C>T	uc003hkq.4	+	4	894	c.591C>T	c.(589-591)atC>atT	p.I197I	CCNG2_uc003hkn.4_Silent_p.I197I|CCNG2_uc011ccc.1_Silent_p.I197I|CCNG2_uc003hkp.4_Silent_p.I197I	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	197					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCGACTCATCTTTTCAAAAG	0.294000														22			11		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330095	125330095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:125330095C>T	uc004bmp.1	-	0	662	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R221*(1)		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						AGTGAGGATTCGTATATAAGA	0.428000														22			9		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97875247	97875247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:97875247G>A	uc003upg.3	-	2	417	c.212C>T	c.(211-213)gCc>gTc	p.A71V	TECPR1_uc003uph.1_Intron	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	71						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATTCTCATAGGCCTCCTCTCG	0.562000														10			7		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:9561263C>T	uc002wnl.2	-	4	1064	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_uc002wnk.2_Missense_Mutation_p.M173I|PAK7_uc002wnj.2_Missense_Mutation_p.M173I|PAK7_uc010gby.1_Missense_Mutation_p.M173I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	173	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTTCATTTTCATTACGTGCC	0.463000														78			73		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113875471	113875471	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:113875471G>A	uc002tiz.3	+	1	1	c.-125_splice	c.e1-1		IL1RN_uc002tix.1_Intron|IL1RN_uc002tiy.3_Splice_Site|IL1RN_uc002tja.3_Splice_Site	NM_173841	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 2, mRNA.						immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TGGAAGGAGGGGCAGCTCCAC	0.607000									Lichen Sclerosis et Atrophicus, Familial Clustering of					16			14		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156825262	156825262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:156825262G>A	uc003ipf.1	+	1	192	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	43	Substrate binding (By similarity).				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTTATCTATGGGAACTACCTG	0.413000														8			20		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44770458	44770458	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:44770458C>T	uc021uvi.1	+	2	229	c.123C>T	c.(121-123)ttC>ttT	p.F41F	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Silent_p.F41F	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TGGAGAACTTCAGGAACCTGC	0.507000														97			72		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739504	55739504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:55739504C>T	uc003pcq.3	-	0	872	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	BMP5_uc011dxf.2_Missense_Mutation_p.E54K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	54					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.E54K(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGAGAATTTCCCTTTGTATT	0.438000														50			39		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251489	129251489	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:129251489C>T	uc003emt.3	+	3	905	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	270					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	p.A269T(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCTACGCCAGCGTGGCATTCT	0.572000														28			27		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57216787	57216787	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:57216787G>A	uc001cym.4	-	8	1723	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	439										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGTCAATCATGGCCTCTTGCT	0.483000														33			34		0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274938	2274938	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:2274938G>T	uc003slm.3	-	2	589	c.560C>A	c.(559-561)cCt>cAt	p.P187H	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Missense_Mutation_p.P33H	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	187					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGTCCCCCCAGGTTGCAGGAT	0.547000														54			29		1.88708e-17	1.89686e-17	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29999120	29999120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:29999120C>T	uc010bzm.2	+	14	3583	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.A1063V|TAOK2_uc002dva.2_Missense_Mutation_p.A1176V|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.A1003V	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1176					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCCGTGGGCCATCCACACA	0.677000														27			28		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091612	143091612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:143091612G>A	uc003qjd.3	-	4	5007	c.4264C>T	c.(4264-4266)Ccc>Tcc	p.P1422S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1422L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAACACAAGGGGATGGAGGAT	0.547000														42			27		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537910	55537910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:55537910G>A	uc003xsd.1	+	3	1616	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	490					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAAGAAAGGGAAAGTGGGGA	0.358000														28			30		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19486669	19486669	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr22:19486669C>T	uc011aha.2	+	9	873	c.795C>T	c.(793-795)atC>atT	p.I265I	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.I228I|CDC45_uc002zpr.3_Silent_p.I233I|CDC45_uc002zpt.3_Silent_p.I187I	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	233					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AAGACAAGATCACTCAGTAAG	0.572000														74			55		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125557523	125557523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:125557523C>T	uc001lhk.1	-	5	1183	c.858G>A	c.(856-858)atG>atA	p.M286I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	286	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCTCCATTCTCATGCAGATGC	0.557000														22			30		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136873442	136873442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:136873442C>T	uc002tuz.3	-	1	151	c.56G>A	c.(55-57)gGg>gAg	p.G19E	CXCR4_uc002tuy.3_Missense_Mutation_p.G23E|CXCR4_uc010fnk.3_Missense_Mutation_p.G4E	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	19	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GTCATAGTCCCCTGAGCCCAT	0.423000														50			54		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151453191	151453191	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chrX:151453191C>T	uc010ntk.1	-	3	519	c.279G>A	c.(277-279)gtG>gtA	p.V93V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	93					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCAGTCTTCACTTCAGTCA	0.438000														3			32		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:126707544T>G	uc003ejg.3	+	0	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000														40			5		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132618591	132618591	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:132618591C>T	uc004bys.2	+	3	298	c.87C>T	c.(85-87)acC>acT	p.T29T	USP20_uc004byr.2_Silent_p.T29T|USP20_uc004byt.1_Silent_p.T29T	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	29					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CACAGGGAACCTGTCAGTCGT	0.592000														7			93		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44426927	44426927	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:44426927C>T	uc001ckx.3	+	13	3132	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	779					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCACTCTCTTCCAGCAAGGTA	0.582000														182			185		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506994	155506994	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:155506994G>A	uc003iod.1	-	4	1645	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	FGA_uc003ioe.1_Silent_p.F529F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	529					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAAACCTGGGAATGTTTTTC	0.473000														12			29		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17056374	17056374	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:17056374C>T	uc011awc.2	+	3	3061	c.2965C>T	c.(2965-2967)Ctg>Ttg	p.L989L	PLCL2_uc011awd.2_Silent_p.L871L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	997					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCCGGAGGTTCTGAAGAAGAT	0.502000														90			68		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180299	124180299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:124180299G>A	uc010sag.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAACATAGCGATCATATGCC	0.488000														12			10		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146868	52146868	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:52146868A>C	uc002pxf.4	-	5	1190	c.1070T>G	c.(1069-1071)gTc>gGc	p.V357G		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	357					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CAGGGTGAGGACGAGGGGCCA	0.582000														40			25		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000														54			3		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117217093	117217093	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:117217093C>T	uc009zwn.3	+	6	1055	c.822C>T	c.(820-822)acC>acT	p.T274T	RNFT2_uc001twb.4_Silent_p.T274T|RNFT2_uc001twa.4_Silent_p.T184T|RNFT2_uc001twc.4_Silent_p.T22T	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	274						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGTACATCACCATCGCCCTCA	0.557000														52			59		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														12			4		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870827	12870827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:12870827G>A	uc001ilo.3	+	10	1334	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	367						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTCAGGAGTTGGAGCCGAGCG	0.622000														13			38		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794549	15794549	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:15794549C>T	uc002nbl.3	+	6	1013	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTTGGATTTCATTGATGTGC	0.438000														82			71		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464422	2464422	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:2464422G>A	uc002wge.1	-	5	1673	c.1185C>T	c.(1183-1185)acC>acT	p.T395T	ZNF343_uc010gao.1_Silent_p.T395T|ZNF343_uc002wgd.1_Silent_p.T305T	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GTTTTCTGAGGGTTGACTTAT	0.498000														40			32		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875287	247875287	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:247875287G>A	uc001idj.1	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACGTGAAGGAAAACTGTGG	0.527000														52			43		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55355009	55355009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:55355009G>A	uc010spd.1	-	9	1643	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	TESPA1_uc001sgl.3_Missense_Mutation_p.P366S|TESPA1_uc001sgm.3_Missense_Mutation_p.P251S|TESPA1_uc010spb.1_Missense_Mutation_p.P251S|TESPA1_uc010spc.1_Missense_Mutation_p.P366S|TESPA1_uc001sgn.3_Missense_Mutation_p.P504S	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	504																	GGTCTGCTGGGCCAGCGACTC	0.567000														122			113		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382018	41382018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:41382018G>A	uc003jmm.1	-	1	824	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	241					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S241L(2)|p.S241S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TATAAAAAACGATCCCTTCTT	0.507000														27			28		0	0	1	0	0
BRP44	25874	broad.mit.edu	37	1	167887567	167887567	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:167887567G>A	uc001ges.3	-	4	738	c.378C>T	c.(376-378)caC>caT	p.H126H	BRP44_uc001geu.3_Silent_p.H126H|BRP44_uc001get.3_Silent_p.H126H	NM_015415	NP_056230	O95563	BR44_HUMAN	Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA.	126						mitochondrion				breast(1)|kidney(1)|large_intestine(2)	4	all_hematologic(923;0.215)			KIRC - Kidney renal clear cell carcinoma(1967;0.247)		TCTTTTATTTGTGTGCTTTAG	0.308000														18			19		0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77225523	77225524	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:77225523_77225524GG>AA	uc002fez.3	+	1	471_472	c.141_142GG>AA	c.(139-144)gaggaa>gaAAaa	p.E48K	MON1B_uc010vnf.2_Missense_Mutation_p.E48K|MON1B_uc010vng.2_Intron|MON1B_uc002ffa.3_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	48							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGGCCTGGAGGAAACAGGTAT	0.584000														9			8		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448473	49448473	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:49448473C>T	uc001jgi.3	-	5	961	c.630G>A	c.(628-630)agG>agA	p.R210R	FRMPD2_uc001jgh.3_Silent_p.R179R|FRMPD2_uc001jgj.3_Silent_p.R179R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	210					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)		GCAGCCTCTTCCTGAGCAGGT	0.587000														21			12		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106204163	106204163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr14:106204163G>A	uc001yse.3	-	6	1180	c.734C>T	c.(733-735)tCg>tTg	p.S245L	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GTCCACCACCGAGGAGAAGAT	0.667000														111			73		0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119263714	119263715	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:119263714_119263715CC>TT	uc003ecq.3	-	3	496	c.101_splice	c.e3-1	p.G34_splice	CD80_uc010hqt.1_Splice_Site_p.G34_splice|CD80_uc010hqu.1_Splice_Site_p.G34_splice|CD80_uc003ecr.1_Splice_Site_p.G34_splice	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	34					T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTGGATAACACCTATGGAGAGG	0.441000														9			11		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179338084	179338084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:179338084C>T	uc001gmo.3	+	2	634	c.247C>T	c.(247-249)Cct>Tct	p.P83S	AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.P41S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	83										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						CTTACTACCTCCTAAGAAAAT	0.373000														28			27		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911365	100911365	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chrX:100911365G>A	uc010nnt.2	-	4	2019	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	ARMCX2_uc004eid.2_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eie.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc022caq.1_Nonsense_Mutation_p.Q404*	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	404						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCTACCTGTTGGATGAAAGGA	0.453000														3			42		0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13629110	13629110	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr10:13629110C>T	uc001imp.3	+	0	172	c.24C>T	c.(22-24)atC>atT	p.I8I	PRPF18_uc001imq.3_Non-coding_Transcript	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	8					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AATCAGAGATCCTTCGGAAGC	0.612000														55			76		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75974676	75974676	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:75974676C>T	uc002baw.3	-	7	5001	c.4908G>A	c.(4906-4908)caG>caA	p.Q1636Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1636	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGTGCTGTCCTGCTGGGCGT	0.672000														46			61		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263656	140263656	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:140263656G>A	uc003lif.2	+	0	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	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_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S601S|PCDHAC2_uc003lid.3_Silent_p.S601S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	614	Cadherin 6.				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)			ACGCCGATTCGGGCTACAATG	0.697000														5			76		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2028377	2028377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:2028377C>T	uc002cnu.1	+	20	2300	c.2198C>T	c.(2197-2199)gCc>gTc	p.A733V	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.A619V|TBL3_uc010bsc.1_Missense_Mutation_p.A600V|TBL3_uc010uvt.1_Missense_Mutation_p.A202V|TBL3_uc002cnw.1_Non-coding_Transcript	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	733					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAGGCCCAGGCCGTGCTGGGT	0.672000														59			56		0	0	1	0	0
CD3G	917	broad.mit.edu	37	11	118220644	118220644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:118220644G>A	uc001psu.2	+	2	346	c.266G>A	c.(265-267)gGa>gAa	p.G89E	CD3G_uc009zaa.1_Missense_Mutation_p.G29E	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	89	Ig-like.				T cell activation|T cell costimulation|T cell receptor signaling pathway|establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis	T cell receptor complex|integral to plasma membrane	T cell receptor binding|protein heterodimerization activity|receptor signaling complex scaffold activity|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAGTGTAAAGGATCACAGAAC	0.388000														48			22		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857387	9857387	+	Silent	SNP	C	T	T	rs61758997		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr16:9857387C>T	uc010uym.2	-	13	4324	c.4014G>A	c.(4012-4014)ggG>ggA	p.G1338G	GRIN2A_uc002czo.4_Silent_p.G1338G|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1338					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)	AGCTTTTTTTCCCCGAGAGTT	0.552000														42			30		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309829	52309829	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:52309829T>G	uc001rzj.3	+	7	1341	c.1058T>G	c.(1057-1059)gTg>gGg	p.V353G	ACVRL1_uc001rzk.3_Missense_Mutation_p.V353G|ACVRL1_uc010snm.2_Missense_Mutation_p.V179G	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	353	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.V353V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGCCTGGCTGTGATGCACTCA	0.632000														66			68		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307514	140307514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:140307514C>T	uc003lih.2	+	0	1213	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	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_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				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)			CTGACTCTTTCGAACCCAGTA	0.517000														7			78		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733690	35733690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr13:35733690C>T	uc021rid.1	+	21	3916	c.3382C>T	c.(3382-3384)Cca>Tca	p.P1128S	NBEA_uc021ric.1_Missense_Mutation_p.P1128S|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1128						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGATAATGGTCCATTGATAAC	0.343000														11			9		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549915	205549915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:205549915C>T	uc001hcv.4	+	2	642	c.556C>T	c.(556-558)Cat>Tat	p.H186Y	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.H131Y	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	186					transmembrane transport	integral to membrane		p.H186N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCACCTGTTCCATGTCTCCAG	0.617000														35			35		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904093	21904093	+	RNA	SNP	A	G	G	rs76302591		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr17:21904093A>G	uc002gza.2	+	0		c.32A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cacggggtccacaggaacgtc	0.682000														38			3		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490101	128490101	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:128490101C>T	uc003vnz.4	+	30	5480	c.5271C>T	c.(5269-5271)ccC>ccT	p.P1757P	FLNC_uc003voa.4_Intron	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1757	Hinge 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACGCTCCTccccggcccggcg	0.687000														2			2		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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)				108			132		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726745	25726745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:25726745C>T	uc003nfc.3	-	0	46	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCTTCCCTCGTCCAGACAT	0.522000														73			65		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11031727	11031728	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:11031727_11031728GA>AC	uc002mpz.3	+	13	1665_1666	c.1539_1540GA>AC	c.(1537-1542)gggatg>ggACtg	p.M514L	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Missense_Mutation_p.M297L	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	514	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGGACACAGGGATGCCGACCGC	0.668000														34			20		0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57929324	57929324	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:57929324G>A	uc021qzn.1	-	5	354	c.222C>T	c.(220-222)ttC>ttT	p.F74F	DCTN2_uc001som.1_Silent_p.F69F|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	69					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	p.D73H(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TACGATCTGAGAAATCTGCCA	0.448000														66			39		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768441	57768441	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr20:57768441C>T	uc002yan.3	+	0	2367	c.2367C>T	c.(2365-2367)gcC>gcT	p.A789A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	789						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGAGGTGCCCGAGGTGTGG	0.657000														19			17		0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622600	180622600	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:180622600C>A	uc003mmz.1	-	6	1169	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	TRIM7_uc003mmv.1_Nonsense_Mutation_p.E186*|TRIM7_uc003mmw.1_Nonsense_Mutation_p.E160*|TRIM7_uc003mmy.1_Nonsense_Mutation_p.E160*|TRIM7_uc003mmx.1_Nonsense_Mutation_p.E160*	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	368	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667000														98			3		1	1	1	1	0
PSMB1	5689	broad.mit.edu	37	6	170862327	170862327	+	Silent	SNP	A	G	G			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:170862327A>G	uc011ehe.2	-	0	91	c.4T>C	c.(4-6)Ttg>Ctg	p.L2L	PSMB1_uc003qxq.2_Non-coding_Transcript|PSMB1_uc003qxr.3_5'Flank|TBP_uc003qxu.3_5'Flank|TBP_uc011ehf.2_5'Flank|TBP_uc003qxt.3_5'Flank	NM_002793	NP_002784	P20618	PSB1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA.	2					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	GTAGAGGACAACATCGCACGG	0.602000														13			9		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42603282	42603282	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:42603282G>T	uc011dur.2	+	13	1970	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	UBR2_uc011dus.2_Missense_Mutation_p.D203Y|UBR2_uc010jxv.1_Missense_Mutation_p.D62Y|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	558					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTGTGCTTCAGATGTGAGTTT	0.423000														60			62		4.79706e-38	4.87241e-38	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102181165	102181165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:102181165G>A	uc003dvt.1	+	5	771	c.671G>A	c.(670-672)gGa>gAa	p.G224E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G208E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G208E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	208	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCCAGTATAGGATTACCTTTG	0.353000														46			27		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100336192	100336192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:100336192G>A	uc003uwj.3	+	6	887	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ZAN_uc003uwk.3_Missense_Mutation_p.G241E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	241	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTCATCAGGAAAGCCAGGC	0.557000														16			11		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531935	71531935	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:71531935C>T	uc009zrt.1	-	4	498	c.336_splice	c.e4+1	p.K112_splice	TSPAN8_uc001swk.1_Splice_Site_p.K112_splice|TSPAN8_uc001swj.1_Splice_Site_p.K112_splice	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	112					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGTGCACACACCTTAGATTTG	0.358000														101			72		0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019312	55019312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:55019312G>A	uc002qgc.3	+	2	399	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.E93K|LAIR2_uc010erl.3_Intron	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	93	Ig-like C2-type.					extracellular region	receptor activity	p.E93E(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTCAGTAAGTGAAGGAAATGC	0.493000														64			57		0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611620	90611620	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr15:90611620C>T	uc002bov.2	+	1	1374	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGACTTCTCCACCCTGACCC	0.662000														33			35		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170724939	170724939	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:170724939G>A	uc003fhe.1	-	4	919	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	SLC2A2_uc003fhf.1_Nonsense_Mutation_p.Q31*|SLC2A2_uc011bpu.1_Nonsense_Mutation_p.Q77*	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	204					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GTTTTTACCTGACTAATAAGA	0.483000														12			17		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334807	142334808	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr7:142334807_142334808GA>AC	uc003vzp.2	+	1	284_285	c.229_230GA>AC	c.(229-231)gag>ACg	p.E77T	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.E78T|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAGGCGTCGAGAAGGACAAG	0.515000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			45		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80647328	80647328	+	Silent	SNP	A	C	C			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:80647328A>C	uc001szd.3	+	12	1347	c.1341A>C	c.(1339-1341)tcA>tcC	p.S447S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGTTGGTTCAAAAATTGAAC	0.388000														29			24		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878989	234878989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr2:234878989G>A	uc002vvh.3	+	16	2314	c.2274G>A	c.(2272-2274)atG>atA	p.M758I	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	758						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCTGCTCATGGATTTCCATT	0.557000														267			199		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50750841	50750841	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr22:50750841G>A	uc011arv.1	-	18	1638	c.1566C>T	c.(1564-1566)atC>atT	p.I522I		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	522										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGGTCTCGATGTTCTGCA	0.622000														12			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085830	9085830	+	Silent	SNP	A	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:9085830A>T	uc002mkp.3	-	0	6189	c.5985T>A	c.(5983-5985)gtT>gtA	p.V1995V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1995	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						TCTGCACAGAAACTTTTTCTG	0.468000														37			30		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126739070	126739070	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:126739070C>T	uc003ejg.3	+	19	3921	c.3921C>T	c.(3919-3921)atC>atT	p.I1307I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1307					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.R1307W(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGACAGACATCCACGAGCTGA	0.637000														50			42		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18688694	18688694	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:18688694C>T	uc001bau.2	+	4	893	c.510C>T	c.(508-510)tgC>tgT	p.C170C	IGSF21_uc001bav.2_5'UTR	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	170						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCTGGTCTGCATCGTGTCTG	0.612000														19			14		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164553	12164553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr1:12164553C>T	uc001atq.3	+	3	608	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TNFRSF8_uc010obc.2_Missense_Mutation_p.S18F	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	129					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.S129F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCCATTCTGTCTGTCCG	0.577000														22			26		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265197	42265197	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:42265197C>A	uc002orm.2	+	2	614	c.465C>A	c.(463-465)aaC>aaA	p.N155K		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	155	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACAACTCCAACCCCGTGGAGG	0.557000														165			101		6.13486e-44	6.24758e-44	1	1	0
OR1L6	392390	broad.mit.edu	37	9	125513035	125513035	+	Silent	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr9:125513035G>A	uc022bna.1	+	0	909	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	339					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGGGTTTGAAGAAATTACAGG	0.403000														28			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175559	140175559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr5:140175559C>T	uc003lhd.2	+	0	1116	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S337L|PCDHAC2_uc011czy.2_Missense_Mutation_p.S337L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	352	Cadherin 3.				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)			TGTAAAATTTCATTAAAACTT	0.413000														3			21		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169611778	169611778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr4:169611778G>A	uc011cjx.2	+	6	1571	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	PALLD_uc003iru.3_Missense_Mutation_p.E454K|PALLD_uc003irv.3_Missense_Mutation_p.E72K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	454	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.A453A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCGTGGCGGAAGGCCAGGT	0.502000									Pancreatic Cancer, Familial Clustering of					38			67		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856086	856086	+	Silent	SNP	C	T	T			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr19:856086C>T	uc002lqb.3	+	4	764	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	242	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TAAACTGGATCGACTCTATCA	0.652000														175			138		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171762	67171762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr11:67171762G>A	uc001ola.3	+	1	118	c.89G>A	c.(88-90)gGg>gAg	p.G30E	PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.G30E|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	30						intracellular	Rab GTPase activator activity	p.S29S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCTCAGCGGGCCTGGCCCA	0.687000														8			19		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr3:66436625_66436627delGCT	uc003dmx.3	-	12	1581_1583	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	524	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													---	526	---	---	8	---					
SRF	6722	broad.mit.edu	37	6	43139485	43139487	+	In_Frame_Del	DEL	GGC	-	-			TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr6:43139485_43139487delGGC	uc003oui.3	+	0	566_568	c.91_93delGGC	c.(91-93)ggcdel	p.G35del	SRF_uc011dvf.2_5'Flank	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	35	Gly-rich.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ggggcggccgggcggcggcggcg	0.818													---	4	---	---	2	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-EE-A3J8-06A-11D-A20D-08	TCGA-EE-A3J8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec50919-7be5-4848-8a88-5055bff72f86	0c498759-5af7-4f87-b6bc-0443be965aed	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													---	17	---	---	7	---					
