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
INPPL1	3636	broad.mit.edu	37	11	71946393	71946393	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:71946393C>T	uc001osf.3	+	22	2704	c.2557C>T	c.(2557-2559)Ctg>Ttg	p.L853L	INPPL1_uc001osg.3_Silent_p.L611L	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	853					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAACAGTTCCTGACCTTCCT	0.582000														72			89		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474874	5474874	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:5474874G>A	uc010qzf.2	+	0	237	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGTGGAGCCCAGCCTCC	0.572000														24			16		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432545	61432545	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:61432545G>A	uc010qig.1	-	2	772	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	108					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S108fs*26(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATGCCATAGGAAAAAAACAG	0.428000														37			4		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597715	101597715	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:101597715G>A	uc003knm.3	-	4	1209	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	308					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AACCATCGCGGATCATCCTCA	0.358000														19			10		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873142	36873142	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:36873142C>T	uc003cgj.3	-	20	8048	c.7800G>A	c.(7798-7800)atG>atA	p.M2600I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2600					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCACAGTCCATTAGGTACT	0.557000														21			6		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62793412	62793412	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:62793412G>A	uc002jew.4	-	6	1949	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		AGTTGTGGATGATCCTGGCCG	0.577000														20			5		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091474	17091474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:17091474G>A	uc002nfb.3	-	13	1591	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	473						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGACTTCACAGAAAAATAGGC	0.572000														31			20		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237029028	237029028	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:237029028C>T	uc002vvs.3	+	16	2905	c.2307C>T	c.(2305-2307)ggC>ggT	p.G769G	AGAP1_uc002vvt.3_Silent_p.G716G	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	769					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGGAGACGGCCGCACGGCGC	0.716000														38			34		0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18837064	18837064	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:18837064G>A	uc010qcp.1	-	9	1592	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	392							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGGCAAGGAAATTTTGTC	0.453000														15			5		0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75434712	75434712	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75434712G>A	uc009xri.3	-	7	1747	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	AGAP5_uc001juu.4_Missense_Mutation_p.S530F	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	569	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S546F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCATATTTGGAACGGATCCA	0.587000														52			48		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42730352	42730352	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:42730352G>A	uc002osz.1	+	2	1953	c.1797G>A	c.(1795-1797)cgG>cgA	p.R599R	ZNF526_uc021uvc.1_Silent_p.R599R	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCGAGCTCGGACTTTGACGC	0.617000														29			28		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774947	2774947	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:2774947G>A	uc002wgu.3	-	13	2168	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CPXM1_uc010gas.3_Silent_p.F624F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	698					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTGAGCACGAAATTGCAGG	0.642000														30			12		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437836	44437836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:44437836C>T	uc001ckz.3	+	4	1370	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	DPH2_uc001cla.3_Missense_Mutation_p.P164L|DPH2_uc010okk.2_Missense_Mutation_p.P257L|DPH2_uc001clb.3_Missense_Mutation_p.P316L|ATP6V0B_uc001cld.3_5'Flank|ATP6V0B_uc001cle.3_5'Flank|ATP6V0B_uc001clf.3_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	392					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		p.S391F(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCAGGCTCTCCCTTCCACGTG	0.577000														47			24		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360729	45360729	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:45360729C>T	uc002ilj.3	+	2	195	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	ITGB3_uc002ili.1_Silent_p.L59L|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	59			L -> P (in alloantigen HPA-1B; dbSNP:rs5918).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGCCCTGCCTCTGGGCTCACC	0.552000														7			12		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74241841	74241841	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:74241841C>T	uc002awc.1	+	5	1980	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	548	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGTCTGACTTCACCAACAACG	0.483000														105			40		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104846	168104846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168104846C>T	uc002udx.3	+	8	7033	c.6944C>T	c.(6943-6945)cCt>cTt	p.P2315L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2140L|XIRP2_uc010fpq.3_Missense_Mutation_p.P2093L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2140					actin cytoskeleton organization	cell junction	actin binding	p.P2315H(2)		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						CCTCCACCTCCTTTGATGATG	0.458000														54			31		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264974	50264974	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:50264974G>A	uc001zxu.3	-	12	1190	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ATP8B4_uc010ber.3_Missense_Mutation_p.R223C|ATP8B4_uc010ufd.2_Missense_Mutation_p.R223C|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	350					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTCCTAGACGAATTACTTCC	0.368000														11			7		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674267	43674267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:43674267G>A	uc002ovu.3	-	4	1119	c.988C>T	c.(988-990)Cct>Tct	p.P330S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P330S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	330					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTAAGGAGAGGAAGACGTCCT	0.448000														39			21		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621539	24621539	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:24621539C>T	uc002zzp.4	-	8	1728	c.1311G>A	c.(1309-1311)cgG>cgA	p.R437R	GGT5_uc002zzo.4_Silent_p.R437R|GGT5_uc002zzr.4_Silent_p.R405R|GGT5_uc002zzq.4_Silent_p.R405R|GGT5_uc011ajm.2_Silent_p.R360R	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	437				R -> W (in Ref. 1; AAA58503).	glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGCCGGAACCCCGGGGGCATC	0.652000														30			8		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949342	27949342	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:27949342G>A	uc003zqv.1	-	6	1978	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	LINGO2_uc010mjf.1_Missense_Mutation_p.S443F|LINGO2_uc003zqu.1_Missense_Mutation_p.S443F|LINGO2_uc022bfc.1_Missense_Mutation_p.S443F	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	443	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTCACCCAGGAAATCACAGG	0.532000														26			15		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104943611	104943612	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:104943611_104943612CC>TT	uc003yls.3	+	9	1940_1941	c.1699_1700CC>TT	c.(1699-1701)cca>TTa	p.P567L	RIMS2_uc003ylp.3_Missense_Mutation_p.P789L|RIMS2_uc003ylw.2_Missense_Mutation_p.P581L|RIMS2_uc003ylq.3_Missense_Mutation_p.P581L|RIMS2_uc003ylr.3_Missense_Mutation_p.P628L|RIMS2_uc003ylt.3_Missense_Mutation_p.P174L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	851					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTACTTTCTTCCAGACAGAAGG	0.337000										HNSCC(12;0.0054)				28			5		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876061	74876061	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:74876061C>T	uc001xpx.2	-	1	635	c.387G>A	c.(385-387)cgG>cgA	p.R129R		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	129					response to biotic stimulus	Golgi apparatus|integral to membrane		p.R129L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CCTCCTGGTCCCGCAGCTCCT	0.557000														61			35		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37396597	37396597	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:37396597C>T	uc003jkv.3	+	4	475	c.417C>T	c.(415-417)ctC>ctT	p.L139L	WDR70_uc010iva.1_Silent_p.L139L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	139										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGATATCCTCGGTCCTTTAC	0.408000														24			12		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28989531	28989531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:28989531G>A	uc002kwr.2	+	12	2185	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	DSG4_uc002kwq.2_Missense_Mutation_p.E684K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	684					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGAGAATTGAAGGGGCCCA	0.517000														30			15		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225313	206225313	+	Silent	SNP	C	T	T	rs149631562		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:206225313C>T	uc001hds.2	+	0	1031	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	291					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCTACATCGCTTGCTGGG	0.582000														60			20		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835312	61835312	+	Missense_Mutation	SNP	G	A	A	rs138929485		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:61835312G>A	uc001jky.3	-	36	5665	c.5327C>T	c.(5326-5328)tCc>tTc	p.S1776F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1776	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1776F(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGAGTGGGGAAAATGGCAT	0.453000														25			36		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067476	103067476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:103067476G>A	uc002tbx.3	+	10	1863	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	IL18RAP_uc010fiz.3_Missense_Mutation_p.G318E	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	460	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGGCTCCAGGAGGAGGTAAG	0.403000														28			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773387	140773387	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140773387C>T	uc003lkd.2	+	0	1905	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.S336L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	339	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCATTTCGGTGGAAGAT	0.398000														49			33		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	75009635	75009635	+	Missense_Mutation	SNP	G	A	A	rs138299635		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:75009635G>A	uc001dge.2	+	26	2847	c.2780G>A	c.(2779-2781)cGa>cAa	p.R927Q	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R826Q	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	826						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CATTCTTGCCGAAATAGTAGC	0.458000														18			5		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168605	50168605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:50168605G>A	uc001zxu.3	-	24	3039	c.2897C>T	c.(2896-2898)tCa>tTa	p.S966L	ATP8B4_uc010ber.3_Missense_Mutation_p.S839L|ATP8B4_uc010ufd.2_Missense_Mutation_p.S776L|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	966					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGGACTAATGAGGTGTAGAT	0.463000														37			16		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632217	9632217	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:9632217G>A	uc010cod.3	+	14	3282	c.3282G>A	c.(3280-3282)ggG>ggA	p.G1094G	USP43_uc002gma.4_Silent_p.G783G|USP43_uc010vva.2_Silent_p.G1089G|USP43_uc010coe.3_Silent_p.G891G|USP43_uc002gmc.4_Silent_p.G606G	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1094					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTGTTCCAGGGGAGCAGGCTT	0.547000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			25		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:5811248G>A	uc010ndi.3	-	6	2636	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	NLGN4X_uc004crp.3_Silent_p.F707F|NLGN4X_uc010ndh.3_Silent_p.F687F|NLGN4X_uc004crq.3_Silent_p.F687F|NLGN4X_uc004crr.3_Silent_p.F687F|NLGN4X_uc010ndj.3_Silent_p.F687F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000														9			30		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282949	5282949	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:5282949G>A	uc010zqw.2	-	1	900	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	PROKR2_uc010zqx.2_Missense_Mutation_p.R298C|PROKR2_uc010zqy.2_Missense_Mutation_p.R298C	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R298C(4)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGAAGTCACGAACGATGGTG	0.562000										HNSCC(71;0.22)				43			14		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46880825	46880825	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:46880825G>A	uc001ndn.4	-	37	5670	c.5427C>T	c.(5425-5427)atC>atT	p.I1809I	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Silent_p.I51I	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1809					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCCCTCTACGATCTTGATCT	0.552000														38			21		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053544	17053544	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:17053544C>T	uc011awc.2	+	2	2778	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	PLCL2_uc011awd.2_Silent_p.S776S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	902					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						GGAAGAAATCCAGGGAATATG	0.453000														36			16		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20842691	20842691	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:20842691G>A	uc001vxe.3	-	43	6408	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1466F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2015F|TEP1_uc010tlh.1_Missense_Mutation_p.S461F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2123					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTGGAGCAGGATATCTACAG	0.542000														4			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38764993	38764993	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:38764993G>A	uc003ciq.3	-	17	3280	c.3280C>T	c.(3280-3282)Cct>Tct	p.P1094S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1094					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	atttcctcaggatctAGGCAG	0.612000														12			11		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252399	46252399	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:46252399A>T	uc011bzc.1	-	9	1709	c.1297T>A	c.(1297-1299)Ttg>Atg	p.L433M	GABRA2_uc003gxc.3_Missense_Mutation_p.L428M|GABRA2_uc010igc.2_Missense_Mutation_p.L428M			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	428					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTACCAAACAAAACTGGAAAA	0.373000														37			23		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891788	167891788	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:167891788C>T	uc003lzu.3	+	20	3064	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L	WWC1_uc003lzv.3_Silent_p.L997L|WWC1_uc011den.2_Silent_p.L997L|WWC1_uc003lzw.3_Silent_p.L790L|WWC1_uc010jjf.1_Silent_p.L263L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	991	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCGCTGGACCTGGAGTTAGA	0.592000														29			16		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273361	210273361	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:210273361T>G	uc001hhs.4	+	6	912	c.854T>G	c.(853-855)aTg>aGg	p.M285R	SYT14_uc001hht.4_Missense_Mutation_p.M240R|SYT14_uc010psn.2_Missense_Mutation_p.M285R|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.M202R|SYT14_uc009xcv.3_Missense_Mutation_p.M240R	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	240	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTTAGGATATGTCAGCTCAA	0.328000														25			8		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236500	33236500	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:33236500C>A	uc001bvu.1	+	5	1764	c.1720C>A	c.(1720-1722)Cca>Aca	p.P574T	KIAA1522_uc010ohm.1_Missense_Mutation_p.P526T|KIAA1522_uc001bvv.2_Missense_Mutation_p.P515T|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	515	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCACGGTCCCCAGAACGGAC	0.672000														11			13		9.31168e-06	9.35581e-06	1	1	0
MORC1	27136	broad.mit.edu	37	3	108836900	108836900	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:108836900C>T	uc003dxl.3	-	0	94	c.7G>A	c.(7-9)Gac>Aac	p.D3N	MORC1_uc011bhn.2_Missense_Mutation_p.D3N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	3					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						GGGTACCTGTCGTCCATGCCC	0.687000														3			5		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:40137207G>A	uc021qgf.1	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_uc001mxc.1_Silent_p.I208I|LRRC4C_uc001mxd.1_Silent_p.I208I|LRRC4C_uc001mxa.1_Silent_p.I212I|LRRC4C_uc001mxb.1_Silent_p.I208I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	212					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAGGTTAGGGATTTCCCGAA	0.458000														29			21		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84563207	84563207	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:84563207C>T	uc004eer.2	-	9	1119	c.973G>A	c.(973-975)Gat>Aat	p.D325N	POF1B_uc004ees.3_Missense_Mutation_p.D325N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	325							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGTGACTTATCAGACATACCC	0.343000														4			7		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892867	166892867	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:166892867C>T	uc002udo.4	-	17	3347	c.3120G>A	c.(3118-3120)agG>agA	p.R1040R	SCN1A_uc010fpk.3_Silent_p.R1012R|SCN1A_uc021vsb.1_Silent_p.R1029R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1040						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1039P(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTTGTTTCCTAATGAAGG	0.313000														14			9		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112225	55112225	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:55112225C>T	uc002qgh.1	+	9	1595	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V		NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	471					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGCTTGGTCCTGGTGGTCC	0.567000														20			13		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92488016	92488016	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:92488016G>A	uc001xzy.3	-	3	846	c.472C>T	c.(472-474)Cat>Tat	p.H158Y		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	158					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATCGTCATGGAAAGCTGAA	0.438000			T	PDGFRB	AML									17			9		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152311	151152311	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:151152311G>A	uc011eem.1	+	14	2329	c.2241G>A	c.(2239-2241)agG>agA	p.R747R	PLEKHG1_uc011eel.1_Silent_p.R728R|PLEKHG1_uc003qny.1_Silent_p.R688R|PLEKHG1_uc003qnz.2_Silent_p.R688R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	688					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATCAGCCAGGGACTCCGTTC	0.488000														19			22		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531385	140531385	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140531385C>T	uc003lir.3	+	0	1547	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.682000														88			44		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47317392	47317392	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:47317392G>A	uc002xtw.1	-	6	839	c.816C>T	c.(814-816)ctC>ctT	p.L272L		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	272	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGCAGGAGGAGCTGAGTGC	0.527000														78			214		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108464184	108464184	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:108464184C>T	uc001pkk.3	-	0	191	c.80G>A	c.(79-81)aGg>aAg	p.R27K		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	27					intracellular protein transport		Rab GTPase binding	p.E26K(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCCTCATTCCTTTCCAGCAC	0.507000														12			18		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461398	11461398	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11461398G>A	uc001qzf.1	-	2	553	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PRB4_uc001qzt.3_Silent_p.S173S	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	236	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGCACTTCGGGACTTGTTTC	0.592000										HNSCC(22;0.051)				169			112		0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995641	21995641	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21995641C>T	uc021ter.1	-	2	625	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDZD9_uc002dka.2_Missense_Mutation_p.D186N	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	248										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGGGCACAATCTTCCAGCCAA	0.453000														237			81		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329002	88329002	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:88329002C>T	uc001vln.3	+	1	1578	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLITRK5_uc010tic.1_Silent_p.F212F|SLITRK5_uc021rlc.1_Silent_p.F453F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	453						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCGCGCTTTCGGGGATCTCA	0.597000														23			15		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445429	87445429	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:87445429G>A	uc002fjz.1	-	11	2514	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.P605P	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	829					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGCTGCACATGGGACTGAAGG	0.662000														7			7		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167595	8167595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:8167595C>T	uc003sro.4	-	12	1374	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	ICA1_uc010ktr.3_Missense_Mutation_p.G442E|ICA1_uc003srm.3_Missense_Mutation_p.G413E|ICA1_uc003srn.4_Missense_Mutation_p.G339E|ICA1_uc003srq.3_Missense_Mutation_p.G413E|ICA1_uc003srr.3_Missense_Mutation_p.G412E|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	413					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTCTGGCTCTCCCAGGGCCAT	0.542000														83			49		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176764725	176764725	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:176764725G>A	uc003mge.3	-	3	732	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	165	Carbohydrate binding (By similarity).|L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCATCATTGGGGTAGGTGT	0.537000														17			7		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79189818	79189818	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:79189818G>A	uc001vkw.1	-	5	2137	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S503F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	693	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGGCACAAAGGAAGTAGACCA	0.393000														79			20		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167138232	167138232	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:167138232C>T	uc010fpl.3	-	12	2369	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.Q558Q|SCN9A_uc002uds.1_Silent_p.Q558Q|SCN9A_uc002udt.1_Silent_p.Q547Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	687						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCATTGCTCTCTGTCTGAGGT	0.348000														28			15		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723941	39723941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39723941C>T	uc002hxe.4	-	6	1522	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	486	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gatcctcttccataactgcct	0.537000														14			5		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17684641	17684641	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:17684641C>T	uc002zmk.1	-	2	777	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	CECR1_uc010gqu.1_Missense_Mutation_p.V189M|CECR1_uc011agi.1_Missense_Mutation_p.V147M|CECR1_uc011agj.1_Missense_Mutation_p.V147M	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	189					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGCTGGGTCACCAGAGTGAAA	0.532000														13			8		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6537604	6537604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:6537604C>T	uc001anp.1	-	2	757	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHG5_uc001ann.1_Missense_Mutation_p.D47N|PLEKHG5_uc001ano.1_Missense_Mutation_p.D66N|PLEKHG5_uc001anq.1_Missense_Mutation_p.D87N|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.D79N|PLEKHG5_uc001ank.1_Missense_Mutation_p.D10N|PLEKHG5_uc009vmb.1_Missense_Mutation_p.D10N|PLEKHG5_uc001anl.1_Missense_Mutation_p.D10N|PLEKHG5_uc001anm.1_Missense_Mutation_p.D10N	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	66					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGAAGGTCGAAGCGGACA	0.627000														39			26		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282900	105282900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:105282900C>T	uc001tla.3	-	3	958	c.791G>A	c.(790-792)tGg>tAg	p.W264*		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	264						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTCTGGAATCCAGCCCAATAT	0.383000														22			16		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487389	31487389	+	Silent	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:31487389T>C	uc002ecd.2	+	7	805	c.771T>C	c.(769-771)tgT>tgC	p.C257C	TGFB1I1_uc021tgx.1_Silent_p.C240C|TGFB1I1_uc002ece.2_Silent_p.C240C	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	257	LIM zinc-binding 1.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGGAGGCTGTTCCACCGCCC	0.647000														38			18		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832776	150832776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:150832776C>T	uc004fev.4	+	10	1359	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	343						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGGATCCAGAGGACTC	0.592000														4			4		0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066208	128066208	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:128066208G>A	uc002toj.2	-	14	1687	c.1587C>T	c.(1585-1587)agC>agT	p.S529S		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	529	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGACTTCAGGGCTCATCCAGT	0.488000														114			79		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215845251	215845251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:215845251C>T	uc002vew.3	-	30	4916	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	ABCA12_uc002vev.3_Missense_Mutation_p.E1248K|ABCA12_uc010zjn.2_Missense_Mutation_p.E493K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1566	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGGCTTCCTTGAGGTAA	0.488000														27			11		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231256835	231256835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:231256835G>A	uc010fxm.1	+	11	1089	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SP140L_uc010fxo.1_Missense_Mutation_p.G105E	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	333	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACTGAGGATGGAAAATGGTTC	0.532000														40			17		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:70800608C>T	uc003tvy.3	+	1	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000														16			11		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752647	14752647	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:14752647C>T	uc010dlo.2	+	1	484	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.L102F	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	102										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCTTAATGTCCTTGATGGCGA	0.433000														5			4		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596704	75596704	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:75596704G>A	uc003kei.1	+	10	1921	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	596					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTATTGCCAGGGAACATTGTG	0.433000														55			27		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828442	42828442	+	Missense_Mutation	SNP	C	T	T	rs139031286	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:42828442C>T	uc002ihf.3	+	13	1882	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	557					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGCCGGGTTCGGGTGCCCTC	0.552000														14			22		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541511	190541511	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:190541511G>C	uc002uqw.2	+	1	383	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Missense_Mutation_p.E99Q	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	99						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)			AGACTATAGAGAGGTCCATCA	0.413000														46			26		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037271	129037271	+	Missense_Mutation	SNP	G	A	A	rs142637273		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:129037271G>A	uc003kvb.1	+	19	3127	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1043	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1042A(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGGAGGCGGGAGTGTGGTC	0.567000														20			9		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061668	103061668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:103061668G>A	uc002tbx.3	+	8	1424	c.940G>A	c.(940-942)Gat>Aat	p.D314N	IL18RAP_uc010fiz.3_Missense_Mutation_p.D172N	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	314	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CACTTTAAAGGATGAAATCAT	0.383000														13			10		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967441	2967441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:2967441G>A	uc003bpc.3	+	12	1675	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	CNTN4_uc003bpb.1_Missense_Mutation_p.D118N|CNTN4_uc021wsg.1_Missense_Mutation_p.D446N|CNTN4_uc003bpd.1_Missense_Mutation_p.D446N|CNTN4_uc003bpe.3_Missense_Mutation_p.D118N|CNTN4_uc003bpf.3_Missense_Mutation_p.D118N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	446	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAAAGGAAGGGATATATTAAA	0.343000														30			20		0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391806	119391806	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:119391806G>A	uc003yom.2	-	3	585	c.456C>T	c.(454-456)ctC>ctT	p.L152L	SAMD12_uc010mda.1_Silent_p.L152L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	152										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TACCTTGTGTGAGTAACTGTA	0.493000														72			14		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960657	150960657	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:150960657G>A	uc001ewa.2	+	10	1258	c.788G>A	c.(787-789)gGc>gAc	p.G263D		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	263					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTCTGCTCGGCCTAGGTAGG	0.532000														54			12		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269905	150269905	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150269905G>A	uc003whl.3	+	2	829	c.747G>A	c.(745-747)gaG>gaA	p.E249E	GIMAP4_uc011kuu.2_Silent_p.E110E|GIMAP4_uc011kuv.2_Silent_p.E263E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	249							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGCTGGAGAGAGAGAAAG	0.458000														16			7		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202453	47202453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:47202453G>A	uc003oyv.3	-	4	2124	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	564					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGAGCCGCTGGATGTAGAGTC	0.582000														8			13		0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140695246	140695246	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:140695246C>T	uc003etr.2	+	6	1122	c.887C>T	c.(886-888)gCc>gTc	p.A296V	SLC25A36_uc003ets.2_Missense_Mutation_p.A295V|SLC25A36_uc003etq.2_Missense_Mutation_p.A139V|SLC25A36_uc011bmz.1_Missense_Mutation_p.A270V	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	296					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CCAAACACAGCCATTATGATG	0.408000														6			12		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370291	86370291	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:86370291T>G	uc001vll.1	-	1	812	c.353A>C	c.(352-354)cAt>cCt	p.H118P	SLITRK6_uc021rla.1_Missense_Mutation_p.H118P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	118						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGATTGATATGAAGTTGTTT	0.358000														50			45		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805028	133805028	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133805028C>T	uc004bzz.3	-	1	723	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	FIBCD1_uc011mcc.2_Missense_Mutation_p.G160R|FIBCD1_uc011mcd.1_Missense_Mutation_p.G168R	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	160					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCCGCAGCCCCATGCACTCC	0.711000														20			9		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613761	135613761	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:135613761C>T	uc003yup.3	-	5	2387	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	ZFAT_uc003yun.3_Missense_Mutation_p.R722Q|ZFAT_uc003yuo.3_Missense_Mutation_p.R722Q|ZFAT_uc010meh.3_Missense_Mutation_p.R722Q|ZFAT_uc010mej.3_Missense_Mutation_p.R672Q|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.R722Q|ZFAT_uc003yur.3_Missense_Mutation_p.R722Q	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCCGGATCCGCTCACACAA	0.537000														95			35		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234799	21234799	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21234799A>C	uc002red.3	-	25	5069	c.4941T>G	c.(4939-4941)atT>atG	p.I1647M		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1647					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTTGGCCAATCCTTAGTG	0.463000														28			20		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246121	166246121	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:166246121C>G	uc002udc.3	+	26	6095	c.5805C>G	c.(5803-5805)gaC>gaG	p.D1935E	SCN2A_uc002udd.3_Missense_Mutation_p.D1935E|SCN2A_uc002ude.3_Missense_Mutation_p.D1935E|SCN2A_uc021vry.1_Missense_Mutation_p.D435E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1935					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACAAGAAAGACAAAGGCAAAG	0.388000														15			12		0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656351	47656352	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:47656351_47656352CC>TT	uc002ipa.3	+	1	732_733	c.448_449CC>TT	c.(448-450)ccc>TTc	p.P150F		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	150	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CAGCCTCGTGCCCCCCAGTAAA	0.540000														43			14		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955522	18955522	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:18955522G>A	uc001mpg.3	-	0	1028	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	270					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P269L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGTAAATGATGGGGTTGG	0.478000														49			16		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658952	39658952	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39658952G>A	uc002hwu.1	-	4	1073	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	KRT13_uc002hwv.1_Missense_Mutation_p.S337F|KRT13_uc010wfr.2_Missense_Mutation_p.S230F|KRT13_uc010cxo.3_Missense_Mutation_p.S337F|KRT13_uc021txk.1_Missense_Mutation_p.S230F	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	337	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCTCAGCTGGGACTGCAGCTC	0.587000														80			43		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282941	152282941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152282941C>T	uc001ezu.1	-	2	4457	c.4421G>A	c.(4420-4422)cGa>cAa	p.R1474Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1474	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTTTCGTGCCTGCTC	0.577000									Ichthyosis					254			102		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55579578G>A	uc001nhw.1	+	0	636	c.636G>A	c.(634-636)atG>atA	p.M212I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502000														45			41		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734832	92734832	+	Silent	SNP	C	T	T	rs142131920		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:92734832C>T	uc003umf.3	-	2	849	c.579G>A	c.(577-579)ccG>ccA	p.P193P	SAMD9_uc003umg.3_Silent_p.P193P|SAMD9_uc022ahg.1_Silent_p.P193P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	193						cytoplasm		p.P193Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTCATGTATCGGATCAATGA	0.383000														46			30		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14057584	14057584	+	Silent	SNP	C	T	T	rs143175897		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:14057584C>T	uc001avi.3	+	2	955	c.99C>T	c.(97-99)ttC>ttT	p.F33F	PRDM2_uc001avg.3_Silent_p.F33F|PRDM2_uc001avh.3_Silent_p.F33F	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	33	SET.					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)		TGAGGCTTTTCCCTTCTGCTG	0.587000														39			23		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207815	81207815	+	Missense_Mutation	SNP	C	T	T	rs137903755		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:81207815C>T	uc003hmd.3	+	2	1033	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	266					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCAAGTTTCGCTTTGGATA	0.418000														19			16		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178404	65178404	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:65178404G>A	uc002lke.1	-	1	4696	c.3472C>T	c.(3472-3474)Cct>Tct	p.P1158S	DSEL_uc021ulg.1_Missense_Mutation_p.P1158S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1148						integral to membrane	isomerase activity|sulfotransferase activity	p.P1158S(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGAGACAAAGGAATTCCAAGA	0.373000														15			12		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567478	5567478	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:5567478C>T	uc001iie.1	+	0	555	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	144	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GGAGTTTGTCCGTGTGCTGGT	0.692000														13			9		0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123377512	123377512	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:123377512C>T	uc003ier.3	-	0	139	c.84G>A	c.(82-84)aaG>aaA	p.K28K		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	28					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.T27A(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GCTGTGTTTTCTTTGTAGAAC	0.368000			T	TNFRSF17	intestinal T-cell lymphoma									14			13		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044325	29044325	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:29044325C>A	uc002kws.3	+	8	1360	c.1251C>A	c.(1249-1251)aaC>aaA	p.N417K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	417	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGACACTAACAAAGCTGCCT	0.338000														26			8		1.12685e-05	1.13041e-05	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31933779	31933779	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:31933779C>T	uc003nyn.1	+	17	2580	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	SKIV2L_uc011dou.1_Missense_Mutation_p.R573C|SKIV2L_uc011dov.1_Missense_Mutation_p.R538C	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	731	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGACCTGCACCGCATGATGAT	0.627000														0			6		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423532	95423532	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:95423532G>A	uc003ygk.3	-	3	447	c.316C>T	c.(316-318)Cct>Tct	p.P106S	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACTTCTTTAGGAGCCGAATGA	0.313000								Direct reversal of damage;Homologous recombination						21			45		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96430490	96430490	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:96430490C>T	uc003kmy.4	-	5	1051	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	271										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTCAGCTGATCATCACTGGGT	0.498000														22			15		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997262	146997262	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:146997262G>A	uc003weu.2	+	8	1894	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	460	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAGTGGCACGAGGTTCGCTT	0.398000										HNSCC(39;0.1)				36			15		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261274	49261274	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:49261274C>T	uc002pkn.1	+	3	999	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.P143S	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	143					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCACGGCCTCCCGCTGCACCT	0.642000														81			39		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766226	77766226	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77766226G>T	uc003yau.2	+	9	7456	c.7069G>T	c.(7069-7071)Gat>Tat	p.D2357Y	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2312Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATGCCACTGATCAAGTGGT	0.488000										HNSCC(33;0.089)				71			157		3.62391e-59	3.71743e-59	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9402034	9402034	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:9402034G>A	uc021wam.1	+	22	2224	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PLCB4_uc010gbw.1_Missense_Mutation_p.E737K|PLCB4_uc010gbx.3_Missense_Mutation_p.E749K|PLCB4_uc021wal.1_Missense_Mutation_p.E737K|PLCB4_uc002wnh.3_Missense_Mutation_p.E584K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	737	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E737K(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATACGTAAGGAATTCCGAAC	0.408000														45			18		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43087474	43087474	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:43087474C>T	uc002oud.2	-	4	1076	c.974G>A	c.(973-975)gGa>gAa	p.G325E	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	325					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGGAGAACTTCCTTGTACTAA	0.473000														37			11		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774919	47774919	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:47774919C>T	uc022bvq.1	+	4	1123	c.874C>T	c.(874-876)Cct>Tct	p.P292S	ZNF81_uc010nhy.2_Missense_Mutation_p.P292S	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTTCTTTGCTCCTCAAAAAAT	0.373000														6			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103347	168103347	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168103347C>A	uc002udx.3	+	8	5534	c.5445C>A	c.(5443-5445)aaC>aaA	p.N1815K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.N1640K|XIRP2_uc010fpq.3_Missense_Mutation_p.N1593K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1640					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						ATGTGCATAACACAGTTAAGG	0.398000														36			21		1.28384e-07	1.29607e-07	1	1	0
VAV1	7409	broad.mit.edu	37	19	6854071	6854071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:6854071G>A	uc002mfu.1	+	25	2543	c.2446G>A	c.(2446-2448)Gga>Aga	p.G816R	VAV1_uc010xjh.1_Missense_Mutation_p.G784R|VAV1_uc010dva.1_Missense_Mutation_p.G794R|VAV1_uc002mfv.1_Missense_Mutation_p.G761R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	816	SH3 2.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G816R(2)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAACAAGAAGGGACAGCAAGG	0.602000														29			24		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74472546	74472546	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:74472546C>T	uc002axj.3	-	18	2356	c.1996G>A	c.(1996-1998)Gga>Aga	p.G666R	STRA6_uc002axi.3_Missense_Mutation_p.G436R|STRA6_uc010ulh.2_Missense_Mutation_p.G665R|STRA6_uc002axk.3_Missense_Mutation_p.G627R|STRA6_uc002axl.3_Missense_Mutation_p.G559R|STRA6_uc010bji.3_Missense_Mutation_p.G627R|STRA6_uc021sqg.1_Missense_Mutation_p.G642R|STRA6_uc002axm.3_Missense_Mutation_p.G627R|STRA6_uc002axn.3_Missense_Mutation_p.G618R|STRA6_uc010uli.2_Missense_Mutation_p.G664R	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	627					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCCTAGCTCCCTTGGCCATG	0.637000														87			49		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419966	130419966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:130419966C>T	uc004ewe.4	-	3	437	c.154G>A	c.(154-156)Gag>Aag	p.E52K	IGSF1_uc004ewd.3_Missense_Mutation_p.E52K|IGSF1_uc022cdv.1_Missense_Mutation_p.E43K|IGSF1_uc004ewf.2_Missense_Mutation_p.E32K|IGSF1_uc022cdw.1_Missense_Mutation_p.E52K|IGSF1_uc004ewg.3_Missense_Mutation_p.E52K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	52	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGATGTTCTCCCAAGGGGCC	0.517000														14			39		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75587221	75587221	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:75587221G>A	uc001xrl.3	-	3	670	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	172	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACCTATGAAGGATTCCAGCTT	0.383000														23			11		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108970	21108970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:21108970G>A	uc001vxv.1	-	0	881	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y293Y(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ATTACGTAAGGCATAGATGAA	0.443000														57			38		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652918	1652918	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:1652918G>A	uc002qxa.3	-	16	2698	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	878					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)		TGGAGCGCACGAAGAACATGC	0.632000														10			8		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024990	2024990	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:2024990G>C	uc002cnu.1	+	6	628	c.526G>C	c.(526-528)Gcc>Ccc	p.A176P	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.A62P|TBL3_uc010bsc.1_Missense_Mutation_p.A62P|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	176					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						CACGGATGCCGCCATCCGCGT	0.677000														43			15		0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149991	11149991	+	Missense_Mutation	SNP	C	T	T	rs139620901	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11149991C>T	uc001qzm.2	-	0	484	c.484G>A	c.(484-486)Gta>Ata	p.V162I	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	162					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGTTACGTTTCCTTCA	0.403000														82			6		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961052	133961052	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133961052C>T	uc004caa.1	+	24	4270	c.4172C>T	c.(4171-4173)tCc>tTc	p.S1391F	LAMC3_uc010mze.1_Missense_Mutation_p.S79F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1391	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCCCTCTTTCCTCCAGTGCC	0.587000														16			13		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666602	167666602	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167666602G>A	uc001gem.3	+	5	928	c.741G>A	c.(739-741)gaG>gaA	p.E247E	RCSD1_uc010pli.2_Silent_p.E217E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	247	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCAGGACAGAGAAGCAGGAGG	0.627000														26			6		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66001405	66001405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:66001405C>T	uc001oha.2	+	15	2122	c.1988C>T	c.(1987-1989)cCc>cTc	p.P663L	PACS1_uc010rou.2_Missense_Mutation_p.P199L	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	663					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCATCATCCCCCTCGGTAAA	0.597000														19			19		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28919596	28919596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:28919596G>A	uc001usb.3	-	15	2626	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	781			R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R781Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTCATTTTTCGGATAAAGAGG	0.423000														5			7		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083116	66083116	+	Silent	SNP	A	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:66083116A>T	uc001ohm.1	-	0	1400	c.1383T>A	c.(1381-1383)ccT>ccA	p.P461P		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	461	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGTGGGCAGAAGGCAGTGTGG	0.647000														73			42		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119469801	119469801	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:119469801A>G	uc003ede.4	+	16	2238	c.2161A>G	c.(2161-2163)Aaa>Gaa	p.K721E	C3orf15_uc010hqz.3_Missense_Mutation_p.K659E|C3orf15_uc011bjd.2_Missense_Mutation_p.K595E|C3orf15_uc011bje.2_Missense_Mutation_p.K701E|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_Non-coding_Transcript	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	557						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CGCACAGCGGAAACATATTCT	0.408000														9			17		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178339	49178339	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:49178339C>T	uc001ngy.3	-	14	1814	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	FOLH1_uc001ngx.3_5'Flank|FOLH1_uc009yly.3_Missense_Mutation_p.G503E|FOLH1_uc009ylz.3_Missense_Mutation_p.G503E|FOLH1_uc001ngz.3_Missense_Mutation_p.G518E|FOLH1_uc009yma.3_Missense_Mutation_p.G210E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	518	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.S517Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAATCATTTCCAGATCCCAA	0.328000														39			13		0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89070914	89070914	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:89070914A>C	uc002bmq.2	-	3	1409	c.1220T>G	c.(1219-1221)cTt>cGt	p.L407R	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.L396R|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	396						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATTACGAAAAAGGTCACAGAA	0.453000														19			9		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90490795	90490795	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:90490795G>A	uc010qmv.2	+	2	279	c.279G>A	c.(277-279)tgG>tgA	p.W93*		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	93					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CCAGTAACTGGATTTGCAACC	0.458000														1			10		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285036	55285036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:55285036C>T	uc010erz.1	+	2	360	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.P108S	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	108					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.P108>?(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TACTCACTCCCCCTATCAGGT	0.517000														27			69		0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253710	32253710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:32253710G>A	uc002yov.3	-	0	165	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	45						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTCTGGAAGGAACTGGGCAA	0.582000														27			13		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194488	52194488	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:52194488C>T	uc001wzd.3	+	13	1895	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	FRMD6_uc001wzb.3_Missense_Mutation_p.S529F|FRMD6_uc001wzc.3_Missense_Mutation_p.S529F|FRMD6_uc001wze.3_Missense_Mutation_p.S460F|FRMD6_uc001wzf.3_Missense_Mutation_p.S230F|FRMD6_uc001wzg.3_Missense_Mutation_p.S179F	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	537						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCAAAGACCTCCACTGATCGA	0.443000														61			19		0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778902	69778902	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:69778902G>A	uc002exs.3	-	7	859	c.843C>T	c.(841-843)agC>agT	p.S281S		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	281						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAACACTCGGCTCATGTCAG	0.582000														19			14		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574556	11574556	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:11574556C>T	uc001ash.4	+	3	1564	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	PTCHD2_uc001asi.1_Silent_p.L476L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	476	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.S476S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CATTGCTGCCCTGGTCTACAT	0.587000														34			17		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960399	35960399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:35960399G>A	uc003olm.3	-	5	791	c.680C>T	c.(679-681)tCt>tTt	p.S227F	SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Missense_Mutation_p.S227F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	227					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACTCATTGCAGACTCCGGAAG	0.483000														79			29		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030498	10030498	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:10030498G>A	uc002wno.3	+	6	1674	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.G427G|ANKRD5_uc010gbz.3_Silent_p.G238G	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	427							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAAAGAAAGGGAAATTTGTCT	0.418000														27			36		0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89791381	89791381	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:89791381C>T	uc003ujx.3	+	3	951	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	STEAP1_uc010lem.3_Missense_Mutation_p.H251Y	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	251	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGAGAATTTCACTATATTCA	0.333000														13			13		0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	218837	218837	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:218837G>A	uc002qvx.3	-	9	1087	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	SH3YL1_uc002qvy.3_Missense_Mutation_p.P316S|SH3YL1_uc002qvz.3_Non-coding_Transcript|SH3YL1_uc002qwa.3_Non-coding_Transcript|SH3YL1_uc010ewe.3_Missense_Mutation_p.P220S|SH3YL1_uc002qvv.3_Missense_Mutation_p.P239S|SH3YL1_uc002qvw.3_Non-coding_Transcript	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	Homo sapiens SH3 domain containing, Ysc84-like 1 (S. cerevisiae) (SH3YL1), transcript variant 1, mRNA.	335	SH3.									large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TAGTTGGCTGGAAAAATGCCA	0.328000														20			14		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126510	58126510	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:58126510G>A	uc010rke.2	-	0	33	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACCAAGCAGGATGAATTCAC	0.418000														43			14		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78165574	78165574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:78165574G>A	uc001vki.3	+	10	841	c.671G>A	c.(670-672)aGa>aAa	p.R224K	SCEL_uc010thx.2_Missense_Mutation_p.R202K|SCEL_uc001vkj.3_Missense_Mutation_p.R224K	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	224					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAAACCAACAGATCTGCTGAA	0.303000														15			14		0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43477258	43477258	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:43477258G>A	uc003ovk.1	-	0	1167	c.266C>T	c.(265-267)tCc>tTc	p.S89F	LRRC73_uc003ovj.1_5'Flank	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.	89																	TCACAAGAGGGACTGGATGGA	0.647000														35			5		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428891	139428891	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:139428891C>T	uc002tvi.3	-	1	396	c.396G>A	c.(394-396)ggG>ggA	p.G132G		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	132	III.				neuropeptide signaling pathway	extracellular region		p.G132>?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CAACAATTTTCCCTGTGATGA	0.413000														12			7		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552789	106552789	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:106552789G>A	uc003prd.2	+	4	988	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	PRDM1_uc003pre.3_Missense_Mutation_p.E118K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	252					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E216*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCGTGAAAGAAATCCTAAA	0.438000			"""D, N, Mis, F, S"""		DLBCL									123			95		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135848614	135848614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:135848614C>T	uc010fnf.3	+	3	240	c.197C>T	c.(196-198)tCc>tTc	p.S66F	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.S66F|RAB3GAP1_uc010fng.3_5'UTR|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	66						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GATGAAATTTCCTTTGCTGAC	0.328000														27			16		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8938348	8938348	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:8938348G>T	uc002qzc.2	-	9	1165	c.983C>A	c.(982-984)aCt>aAt	p.T328N	KIDINS220_uc010yiv.1_Missense_Mutation_p.T94N|KIDINS220_uc002qzd.2_Missense_Mutation_p.T286N|KIDINS220_uc010yiw.1_Missense_Mutation_p.T329N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	328					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATATTTCAGTGTCAGGATT	0.338000														17			6		2.0095e-06	2.02542e-06	1	1	0
GGN	199720	broad.mit.edu	37	19	38877842	38877842	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:38877842C>T	uc002oij.1	-	2	195	c.60G>A	c.(58-60)tcG>tcA	p.S20S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	20					cell differentiation|multicellular organismal development|spermatogenesis			p.P19P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCGCGGTCCGAGGGCTGCA	0.652000														3			6		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99849348	99849348	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:99849348G>A	uc004efy.4	+	3	638	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	TNMD_uc004efz.2_Missense_Mutation_p.E138K	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	138	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACCAGAAGAGGAAATAGATGA	0.338000														3			11		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890520	22890520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:22890520G>A	uc002zwf.3	-	4	1655	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.P484L|PRAME_uc010gtr.3_Missense_Mutation_p.P500L|PRAME_uc002zwg.3_Missense_Mutation_p.P500L|PRAME_uc002zwh.3_Missense_Mutation_p.P500L|PRAME_uc002zwi.3_Missense_Mutation_p.P500L|PRAME_uc002zwj.3_Missense_Mutation_p.P500L|PRAME_uc002zwk.3_Missense_Mutation_p.P500L	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	500	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCACAGGATGGGCTCCGGGTC	0.542000														90			79		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693821	132693821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:132693821G>A	uc003qdf.3	-	3	688	c.589C>T	c.(589-591)Cca>Tca	p.P197S	MOXD1_uc003qde.3_Missense_Mutation_p.P129S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	197					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.P197T(2)|p.P129T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCTTTGTTTGGGATGGGGACC	0.363000														23			13		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498776	150498776	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150498776G>A	uc003whx.1	+	1	216	c.138G>A	c.(136-138)caG>caA	p.Q46Q	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	46						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCACCCAGGCCAGGGGCA	0.711000														8			3		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408266	75408266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75408266C>T	uc001jut.4	-	3	1296	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SYNPO2L_uc001jus.4_Missense_Mutation_p.E158K	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	382						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCAGAGACCTCACTCAGCTGC	0.632000														71			23		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797746	68797746	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:68797746C>T	uc003hdr.1	-	3	415	c.294G>A	c.(292-294)aaG>aaA	p.K98K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.K95K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	98	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATAATTTTTCTTCCAGGCTG	0.348000														18			10		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692327	20692327	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:20692327C>T	uc010tlc.2	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCCTCCATCATGACTGGGA	0.433000														47			36		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167791329	167791329	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167791329C>T	uc001ger.3	-	29	4517	c.4219G>A	c.(4219-4221)Gaa>Aaa	p.E1407K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1254K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1315K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1407					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTTGTTTTCGTATTGGTGT	0.393000														19			22		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304211	115304211	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:115304211C>T	uc022cdd.1	+	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	AGTR2_uc004eqh.4_Silent_p.F226F	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	226					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTTTAATATTCATAGCAACAT	0.398000														8			19		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294300	29294300	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:29294300T>C	uc002rmt.2	-	0	2828	c.2828A>G	c.(2827-2829)cAg>cGg	p.Q943R		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	943					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTTCTCTGCCTGACTCCAAGT	0.657000														29			22		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56500490	56500490	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:56500490G>C	uc003pcy.4	-	9	1580	c.1472C>G	c.(1471-1473)gCt>gGt	p.A491G	DST_uc021zay.1_Missense_Mutation_p.A857G|DST_uc021zax.1_Missense_Mutation_p.A491G|DST_uc003pdc.4_Missense_Mutation_p.A491G|DST_uc003pdd.4_Missense_Mutation_p.A491G	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	817					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAATCAGTAGCTTCTTTGGC	0.388000														29			3		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168151	36168151	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36168151C>T	uc003olv.4	+	1	276	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	BRPF3_uc010jwb.3_Missense_Mutation_p.P18S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P18S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	18					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGGCGTTCCCCGTCCCCCTA	0.632000														59			13		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908184	60908184	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:60908184G>A	uc002ycq.3	-	25	3311	c.3244C>T	c.(3244-3246)Ccg>Tcg	p.P1082S	LAMA5_uc021wfw.1_Missense_Mutation_p.P1082S|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1082	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTGCGACGGGCTGAGCTGC	0.711000														33			5		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333197	70333197	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:70333197C>T	uc001oqc.3	-	20	3115	c.3003G>A	c.(3001-3003)cgG>cgA	p.R1001R	SHANK2_uc010rqn.2_Silent_p.R477R|SHANK2_uc001opz.3_Silent_p.R472R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	688					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTCGTCAGGCCGCAGCTGGC	0.697000														66			30		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	T	T	rs145934024		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:132289353C>T	uc002tta.3	+	3	713	c.661C>T	c.(661-663)Cct>Tct	p.P221S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P155S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P221S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P263S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	221								p.P221S(2)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000														58			27		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058866	152058866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152058866C>T	uc001ezo.1	-	2	1357	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	431							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTTGATAATCCTTGGAGTTC	0.463000														102			34		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912891	6912891	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:6912891G>A	uc010rau.2	-	0	841	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTAAGCATGGGAGTCACTATT	0.428000														17			11		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037960	48037960	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:48037960G>C	uc003gxw.3	+	5	1070	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	335						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ATGACAGCTGGAGATATCATT	0.398000														34			21		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40087455	40087455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:40087455G>A	uc003thh.4	+	6	2861	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	CDK13_uc003thi.4_Missense_Mutation_p.R860Q|CDK13_uc011kbf.2_Missense_Mutation_p.R246Q	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	860	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGACTTGCTCGATTGTATAGC	0.313000														39			34		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084474	53084474	+	Missense_Mutation	SNP	C	T	T	rs150692183		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:53084474C>T	uc003xqz.2	-	4	1103	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R281Q|ST18_uc011lds.1_Missense_Mutation_p.R221Q|ST18_uc003xra.2_Missense_Mutation_p.R316Q|ST18_uc003xrb.2_Missense_Mutation_p.R316Q	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACACAACCTCGCTCAGCCTG	0.517000														32			80		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239155103	239155103	+	Silent	SNP	A	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:239155103A>T	uc002vyc.3	-	22	3918	c.3681T>A	c.(3679-3681)atT>atA	p.I1227I		NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1227	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCAGAGAAGGAATATCTTCCT	0.413000														14			8		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8525035	8525035	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:8525035C>T	uc003zkk.3	-	18	1312	c.569_splice	c.e18-1	p.G190_splice	PTPRD_uc003zkp.3_Splice_Site_p.G190_splice|PTPRD_uc003zkq.3_Splice_Site_p.G190_splice|PTPRD_uc003zkr.3_Splice_Site_p.G184_splice|PTPRD_uc003zks.3_Splice_Site_p.G184_splice|PTPRD_uc022bdj.1_Splice_Site_p.G187_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	190	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGAAGGGCTCCTGTATGGAT	0.443000										TSP Lung(15;0.13)				70			37		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566401	127566402	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:127566401_127566402GG>AA	uc004bov.3	+	5	1061_1062	c.948_949GG>AA	c.(946-951)ctggag>ctAAag	p.E317K	OLFML2A_uc010mwr.1_Missense_Mutation_p.E281K|OLFML2A_uc004bow.3_Missense_Mutation_p.E103K	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	317										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTTCCTGGCTGGAGCAACTGCC	0.629000														18			12		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370910	126370910	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:126370910C>T	uc003ifj.4	+	8	8739	c.8739C>T	c.(8737-8739)tcC>tcT	p.S2913S	FAT4_uc011cgp.2_Silent_p.S1211S|FAT4_uc003ifi.1_Silent_p.S391S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2913	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCATAAAATCCCAATCAGAAT	0.358000														34			19		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118248	165118248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:165118248C>T	uc011cjk.2	-	0	616	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	206	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ccttcttcatcctcctcgtcc	0.512000														10			5		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441030	99441030	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:99441030C>T	uc003yin.3	+	1	1173	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	KCNS2_uc022azb.1_Silent_p.L275L	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	275						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TTACATCACTCTGGTGGTGAA	0.537000														45			129		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019187	216019187	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:216019187G>A	uc001hku.1	-	44	9421	c.9034C>T	c.(9034-9036)Cat>Tat	p.H3012Y		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3012	Fibronectin type-III 16.				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)		GTGGTTGCATGAAGTCCTGCA	0.448000										HNSCC(13;0.011)				26			9		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240003	27240003	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:27240003G>A	uc002hdg.1	-	8	2116	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	PHF12_uc010wbb.1_Missense_Mutation_p.S511F|PHF12_uc002hdi.1_Missense_Mutation_p.S525F|PHF12_uc002hdj.1_Missense_Mutation_p.S529F|PHF12_uc010crw.1_Missense_Mutation_p.S232F|PHF12_uc002hdh.1_Missense_Mutation_p.S312F	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	529	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGTTTTCTTGGATTTTTCCGC	0.572000														37			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957941	38957941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:38957941G>A	uc021yzh.1	+	87	13316	c.13207G>A	c.(13207-13209)Gat>Aat	p.D4403N	DNAH8_uc003ooe.2_Missense_Mutation_p.D4186N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTAATGCTGATATCACGTA	0.408000														127			49		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384754	108384754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:108384754G>A	uc001pkk.3	-	5	1591	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	EXPH5_uc010rvz.2_Missense_Mutation_p.H338Y|EXPH5_uc010rvy.2_Missense_Mutation_p.H306Y	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	494					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGCTTCGATGAAAGTCAGAC	0.418000														13			21		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137093	126137093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:126137093C>T	uc001uhe.1	+	7	2014	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	TMEM132B_uc001uhf.1_Missense_Mutation_p.S181F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	669						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGGCATGTCTCTCTCCCTG	0.602000														34			21		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28386575	28386575	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:28386575G>A	uc002het.3	+	13	2785	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	EFCAB5_uc010wbj.2_Intron|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Missense_Mutation_p.A744T	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	865							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TAGCCAAAATGCTTTCCAAGT	0.423000														22			21		0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665808	71665808	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:71665808C>T	uc003pfw.3	-	0	981	c.325G>A	c.(325-327)Gcg>Acg	p.A109T	B3GAT2_uc003pfv.3_Missense_Mutation_p.A109T			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	109					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCAGCTGCGCCACCTGGCGG	0.711000														13			7		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073219	184073219	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:184073219G>A	uc003foi.3	-	11	1393	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Silent_p.A423A|CLCN2_uc011brl.2_Silent_p.A423A|CLCN2_uc011brm.2_Silent_p.A379A|CLCN2_uc011brn.1_Silent_p.A423A	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	423						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGGGTTCCAGGCCTGTGAGG	0.567000														10			14		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892219	38892219	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:38892219G>A	uc021wvy.1	-	24	4279	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	SCN11A_uc003cis.1_Silent_p.F25F	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1360					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1360F(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGACTATGTCGAACACGAGAC	0.313000														40			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616449	77616449	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77616449G>A	uc003yau.2	+	1	513	c.126G>A	c.(124-126)agG>agA	p.R42R	ZFHX4_uc003yat.1_Silent_p.R42R|ZFHX4_uc003yaw.1_Silent_p.R42R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D41Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCCTGACAGGGAAAACAGCT	0.498000										HNSCC(33;0.089)				53			11		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716622	137716622	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:137716622G>A	uc004cfe.3	+	61	5257	c.4875G>A	c.(4873-4875)atG>atA	p.M1625I	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1625	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGAGCAGATGAAACGGCCCC	0.632000														26			10		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190018	49190018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:49190018C>T	uc002rww.3	-	9	2052	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	FSHR_uc010fbn.3_Missense_Mutation_p.E622K|FSHR_uc002rwx.3_Missense_Mutation_p.E586K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	648					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTTGCATTTCATAGCAGCCA	0.483000									Gonadal Dysgenesis, 46 XX					17			8		0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36922607	36922608	+	Missense_Mutation	DNP	CC	TT	TT	rs148879002	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36922607_36922608CC>TT	uc021yzd.1	+	1	294_295	c.71_72CC>TT	c.(70-72)ccc>cTT	p.P24L	PI16_uc003omz.1_Missense_Mutation_p.P24L|PI16_uc003ona.3_Missense_Mutation_p.P24L	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	24						extracellular region|integral to membrane	peptidase inhibitor activity	p.P24T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCACAGGCCCCGTTGGAGCCC	0.619000														55			11		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622636	65622636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:65622636C>T	uc002aos.2	-	10	2105	c.1853G>A	c.(1852-1854)aGg>aAg	p.R618K	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	618										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCACCTGTCCTCTCAGATGC	0.572000														100			19		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053411	75053411	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:75053411G>A	uc003udk.4	-	11	1854	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	565	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGCCAGGAGGGAGGTGGGTG	0.607000														101			82		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975751	152975751	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152975751C>T	uc021ozo.1	+	0	255	c.255C>T	c.(253-255)gtC>gtT	p.V85V	SPRR3_uc001fax.4_Silent_p.V85V|SPRR3_uc001faz.4_Silent_p.V85V|SPRR3_uc001fay.2_Silent_p.V77V	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	85	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.V85I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.602000														41			23		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19029785	19029785	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:19029785C>T	uc001bay.3	+	6	1748	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	PAX7_uc001baz.3_Missense_Mutation_p.P382S|PAX7_uc010oct.2_Missense_Mutation_p.P384S	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	384					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGCCTGTCTCCTCAGGTAGG	0.612000			T	FOXO1A	alveolar rhabdomyosarcoma									25			25		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699888	119699888	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:119699888G>A	uc002tln.1	+	0	144	c.12G>A	c.(10-12)aaG>aaA	p.K4K	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	4					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.K4N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGAGAAATAAGAAAATTCTCA	0.453000														23			17		0	0	1	0	0
C11orf58	10944	broad.mit.edu	37	11	16760352	16760352	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:16760352G>A	uc001mmk.2	+	0	205	c.27G>A	c.(25-27)ccG>ccA	p.P9P	SOX6_uc001mmh.1_5'Flank	NM_014267	NP_055082	O00193	SMAP_HUMAN	Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.	9										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AGTCTCACCCGCATGGGGTGA	0.577000														39			3		0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36891195	36891195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36891195G>A	uc003omw.3	+	7	1206	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	C6orf89_uc003omv.3_Missense_Mutation_p.G235E|C6orf89_uc003omx.3_Missense_Mutation_p.G341E|C6orf89_uc011dtr.2_Missense_Mutation_p.G235E	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	341						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ATCTGCGATGGAACCGCTTTC	0.483000														26			11		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782025	107782025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:107782025C>T	uc003ymm.4	-	0	448	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	132					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCATCCCTCTCGTACCTGTGG	0.542000														59			131		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624743	624743	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:624743C>T	uc002cho.3	+	1	807	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PIGQ_uc010bqw.3_Silent_p.V223V|PIGQ_uc002chm.3_Silent_p.V223V|PIGQ_uc002chn.3_Silent_p.V223V|PIGQ_uc010uui.2_Silent_p.V237V	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	223	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGTCGCTGGTCTCAGCTGTCA	0.662000														18			5		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904166	21904166	+	RNA	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:21904166G>A	uc002gza.2	+	0		c.105G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gagtccgggggaagcagcgtg	0.682000														100			6		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791071	15791071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:15791071G>A	uc002nbl.3	+	3	480	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CYP4F12_uc010xoo.2_Missense_Mutation_p.D121N|CYP4F12_uc010xop.2_Missense_Mutation_p.D121N	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)					TGCACCCAAGGATAATCTCTT	0.567000														74			49		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750014	119750014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:119750014C>T	uc002tln.1	+	14	1346	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	MARCO_uc010yyf.1_Missense_Mutation_p.S327F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	405	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAGGATCTTCTGGGGAGCAA	0.453000														11			9		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78907154	78907154	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:78907154C>T	uc004akc.2	+	24	3686	c.3148C>T	c.(3148-3150)Cca>Tca	p.P1050S		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	750					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCCAGATGATCCAGGAACATG	0.353000														29			25		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528372	120528372	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:120528372G>A	uc003idh.3	-	1	388	c.233C>T	c.(232-234)tCt>tTt	p.S78F	PDE5A_uc003idf.3_Missense_Mutation_p.S36F|PDE5A_uc003idg.3_Missense_Mutation_p.S26F	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	78					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.E77K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACAAGAGCAAGATTCGGTGTG	0.512000														26			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107218852	107218852	+	RNA	SNP	C	T	T	rs138283102	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:107218852C>T	uc021ser.1	-	12		c.911G>A								Parts of antibodies, mostly variable regions.																		TTCCCTGGAGCTTGGCGGACC	0.587000														74			41		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137081	3137081	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:3137081G>A	uc011ask.2	-	8	1401	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.R253C|IL5RA_uc011asl.2_Missense_Mutation_p.R253C|IL5RA_uc011asm.1_Missense_Mutation_p.R253C|IL5RA_uc010hbt.2_Missense_Mutation_p.R253C|IL5RA_uc011asn.1_Missense_Mutation_p.R253C|IL5RA_uc010hbu.2_Missense_Mutation_p.R253C	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	253					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.R253H(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATAGAGAGACGAGTTCCTTCA	0.358000														21			9		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207445	58207445	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:58207445G>A	uc010rkh.2	-	0	202	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAGAAGTACA	0.458000														20			10		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199336	71199336	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:71199336G>A	uc001xmm.3	-	10	2750	c.2750C>T	c.(2749-2751)tCt>tTt	p.S917F	MAP3K9_uc010ttk.2_Missense_Mutation_p.S645F|MAP3K9_uc001xmk.3_Missense_Mutation_p.S650F|MAP3K9_uc001xml.3_Missense_Mutation_p.S931F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	917	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGCCCCATCAGAAGGAGTCCG	0.592000														56			38		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103175769	103175769	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:103175769T>A	uc022ajr.1	-	45	7503	c.7343A>T	c.(7342-7344)tAt>tTt	p.Y2448F	RELN_uc022ajq.1_Missense_Mutation_p.Y2448F|RELN_uc010liz.3_Missense_Mutation_p.Y2448F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2448					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			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)		TTACCTGGTATAAGGAGGGAG	0.438000														22			14		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970858	201970858	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:201970858C>T	uc001gxd.3	+	7	1418	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	RNPEP_uc001gxe.3_Silent_p.F164F	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	463					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGAATATTTCCCTGAGCTTA	0.428000														90			28		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008395	50008395	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:50008395G>A	uc002itv.4	-	3	988	c.252C>T	c.(250-252)ttC>ttT	p.F84F	CA10_uc002itw.4_Silent_p.F78F|CA10_uc002itx.4_Silent_p.F78F|CA10_uc002ity.4_Silent_p.F78F|CA10_uc002itz.2_Silent_p.F78F	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	78					brain development			p.F78F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GAAAGGGGTCGAAGATCATGT	0.498000														128			50		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636250	15636250	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:15636250C>T	uc002nbh.4	+	2	270	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	35						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCTCTTCTTCCTGTTCCGCCT	0.652000														46			29		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241356	3241356	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:3241356G>A	uc004crg.4	-	4	2527	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	790						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTCCCACGGACTTTGGCTA	0.453000														9			33		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997320	19997320	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:19997320G>A	uc002ktv.1	-	0	559	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	152						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATTTGAGGGATTTTGACTC	0.353000														44			23		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413298	124413298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:124413298C>T	uc003ehg.3	+	52	7652	c.7525C>T	c.(7525-7527)Cag>Tag	p.Q2509*	KALRN_uc003ehk.3_Nonsense_Mutation_p.Q812*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2508	Ig-like C2-type.				apoptosis|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|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGTCCAGACCAGAACATCCT	0.547000														8			27		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239494	155239494	+	Missense_Mutation	SNP	G	A	A	rs146292560	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:155239494G>A	uc001fjy.3	-	2	474	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CLK2_uc001fjw.3_Missense_Mutation_p.R62C|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.R62C	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	62						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGACGAACGATCATCATAA	0.498000								Other conserved DNA damage response genes						103			40		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7724582	7724582	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:7724582C>T	uc002giu.1	+	71	11051	c.11037C>T	c.(11035-11037)ttC>ttT	p.F3679F	DNAH2_uc010cnm.1_Silent_p.F617F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3679					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTACCCTTTTCGAACGCCACA	0.493000														45			22		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013582	95013583	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:95013582_95013583CC>TT	uc002btj.3	+	19	2446_2447	c.2381_2382CC>TT	c.(2380-2382)ccc>cTT	p.P794L	MCTP2_uc010boj.3_Missense_Mutation_p.P523L|MCTP2_uc010bok.3_Missense_Mutation_p.P739L|MCTP2_uc002btl.3_Missense_Mutation_p.P382L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	794					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGACGGTCCCCTTCCTTTCAT	0.406000														66			16		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16004691	16004691	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:16004691G>A	uc002gpo.3	-	19	2832	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	NCOR1_uc002gpn.3_Missense_Mutation_p.P871S|NCOR1_uc002gpp.1_Missense_Mutation_p.P762S|NCOR1_uc002gpr.3_Missense_Mutation_p.P762S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	855					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATCTCTAGGTTCCACCTTC	0.483000														46			28		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417378	150417378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150417378C>T	uc003whq.3	+	2	426	c.286C>T	c.(286-288)Cct>Tct	p.P96S	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.P96S	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CAAGACAGATCCTGGCTGTGA	0.647000														33			14		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231489	21231489	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21231489C>T	uc002red.3	-	25	8379	c.8251G>A	c.(8251-8253)Gaa>Aaa	p.E2751K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2751					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAGGTACTTCAATTGTGTGT	0.398000														67			41		0	0	1	0	0
ACYP1	97	broad.mit.edu	37	14	75530213	75530213	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:75530213A>C	uc001xrg.3	-	1	132	c.44T>G	c.(43-45)tTt>tGt	p.F15C	ACYP1_uc001xrf.3_Missense_Mutation_p.F15C	NM_001107	NP_001098	P07311	ACYP1_HUMAN	Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.	15	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		CACCTTCCCAAAAATTTCATA	0.483000														16			9		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125273	126125273	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:126125273C>T	uc004bnx.1	+	1	316	c.224C>T	c.(223-225)cCa>cTa	p.P75L	CRB2_uc004bnw.1_Missense_Mutation_p.P75L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	75	EGF-like 1.					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						GCCACCCAGCCATGCCACCAC	0.692000														27			28		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907116	29907116	+	Missense_Mutation	SNP	C	T	T	rs147128268	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:29907116C>T	uc010vec.2	-	3	822	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V123I|SEZ6L2_uc002dur.4_Missense_Mutation_p.V123I|SEZ6L2_uc002duq.4_Missense_Mutation_p.V193I|SEZ6L2_uc010ved.2_Missense_Mutation_p.V149I|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	193	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCGGCTGACGGGGCTCCCC	0.542000														67			16		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	618551	618552	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:618551_618552GG>TA	uc002lpf.1	-	16	3414_3415	c.3358_3359CC>TA	c.(3358-3360)ccg>TAg	p.P1120*		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	1120	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAAGTTGGGCGGGAAGCCGTTC	0.658000														18			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102995975	102995975	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:102995975T>C	uc001phn.1	+	11	1952	c.1808T>C	c.(1807-1809)gTt>gCt	p.V603A	DYNC2H1_uc009yxe.1_Missense_Mutation_p.V603A|DYNC2H1_uc001pho.2_Missense_Mutation_p.V603A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	603	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATACAGCAAGTTGCAAACATT	0.353000														4			5		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305358	114305358	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:114305358G>A	uc004bff.2	+	5	2367	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	715					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATTCATACCGGAAGGAGAGA	0.403000														29			22		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126176261	126176261	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:126176261T>C	uc003qai.3	+	2	515	c.146T>C	c.(145-147)gTt>gCt	p.V49A	NCOA7_uc010kes.3_Missense_Mutation_p.V49A|NCOA7_uc003qae.4_Missense_Mutation_p.V49A|NCOA7_uc010ket.3_Intron|NCOA7_uc003qah.3_Missense_Mutation_p.V49A|NCOA7_uc003qaf.3_Missense_Mutation_p.V49A|NCOA7_uc003qag.3_Missense_Mutation_p.V49A|NCOA7_uc003qaj.3_Missense_Mutation_p.V49A	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	49					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AATACAGTAGTTTTAGAGCCA	0.383000														69			48		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43479518	43479518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:43479518G>A	uc002lbm.3	-	26	4760	c.4660C>T	c.(4660-4662)Cgg>Tgg	p.R1554W	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.R108W|EPG5_uc002lbn.2_Missense_Mutation_p.R429W	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1554					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGAGATTCCCGAAGAGCTGCG	0.453000														14			13		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127122	146127122	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:146127122G>A	uc003qla.3	-	1	619	c.420C>T	c.(418-420)acC>acT	p.T140T	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	140							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTGACATCATGGTGGCTACTT	0.403000														42			31		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796416	209796416	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:209796416G>A	uc001hhg.3	-	15	2857	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	LAMB3_uc009xco.3_Missense_Mutation_p.P823S|LAMB3_uc001hhh.3_Missense_Mutation_p.P823S|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	823	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.L822H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGCCCTGGGAAGGACACCC	0.637000														41			65		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187316	140187316	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140187316A>G	uc003lhi.2	+	0	645	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.K182E|PCDHAC2_uc011daa.2_Missense_Mutation_p.K182E	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	197	Cadherin 2.				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)			TTCTCTGGAAAAACCACCTGA	0.478000														29			12		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897855	61897855	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:61897855C>T	uc001nsw.1	+	3	1058	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	INCENP_uc009ynv.3_Silent_p.L286L|INCENP_uc009ynw.1_Silent_p.L286L|INCENP_uc001nsx.1_Silent_p.L286L	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	286					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTCCCATCCTGCCGGATAA	0.652000														64			55		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202574757	202574757	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:202574757C>T	uc001gye.3	-	1	337	c.144G>A	c.(142-144)aaG>aaA	p.K48K	SYT2_uc010pqb.2_Silent_p.K48K|SYT2_uc009xaf.3_Intron	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	48					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ATAACTTCTCCTTCAGTTTGG	0.562000														50			9		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202988	39202988	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:39202988C>T	uc003jls.3	-	0	142	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FYB_uc003jlt.3_Silent_p.G25G|FYB_uc003jlu.3_Silent_p.G25G|FYB_uc011cpl.2_Silent_p.G35G	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	25					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATGAGTTTGGCCCTGTGACTC	0.488000														16			17		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113453	75113453	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75113453G>A	uc009xrc.3	-	2	232	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TTC18_uc001jty.3_Silent_p.F37F|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	37							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCACTTGATTGAATTCTGCTC	0.368000														41			8		0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90475708	90475708	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:90475708C>T	uc001dnq.2	+	5	816	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ZNF326_uc009wda.1_Missense_Mutation_p.S137F|ZNF326_uc001dnr.2_Missense_Mutation_p.S20F	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CAAAACAAATCCACCAATGTG	0.363000														26			12		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261531	1261531	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:1261531C>T	uc002cks.3	+	22	4649	c.4401C>T	c.(4399-4401)atC>atT	p.I1467I	CACNA1H_uc002ckt.3_Silent_p.I1467I|CACNA1H_uc002cku.3_Silent_p.I173I|CACNA1H_uc010brj.3_Silent_p.I173I|CACNA1H_uc002ckv.3_Silent_p.I173I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1467					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCAGGAACATCTCCACCAAGG	0.687000														22			10		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225864	67225864	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:67225864G>A	uc001olo.3	+	4	751	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CABP4_uc001oln.3_Missense_Mutation_p.R120Q	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	225	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGGATGGACGAATTACGGTG	0.602000														68			24		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128040875	128040875	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:128040875C>T	uc011ebt.2	-	5	2118	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	THEMIS_uc010kfa.3_Missense_Mutation_p.E521K|THEMIS_uc021zfa.1_Missense_Mutation_p.E618K|THEMIS_uc010kfb.3_Missense_Mutation_p.E583K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	618					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTCTCTTCATCCACCAAA	0.438000														29			18		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973754	115973754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:115973754G>A	uc001lbg.1	+	15	2246	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	TDRD1_uc001lbf.3_Missense_Mutation_p.G632E|TDRD1_uc001lbh.1_Missense_Mutation_p.G689E|TDRD1_uc001lbi.1_Missense_Mutation_p.G689E|TDRD1_uc010qsc.2_Missense_Mutation_p.G302E|TDRD1_uc001lbj.3_Missense_Mutation_p.G407E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	698					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.G698E(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGTGTGGAAGGAAAAGTAAAT	0.433000														19			12		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807984	50807984	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:50807984C>T	uc003pag.3	+	5	1222	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	352					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCTGCACTCCCGAAAGAATA	0.537000														27			28		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808815	8808815	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:8808815C>T	uc002mkl.2	-	0	358	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	79						cytoplasm|cytoskeleton		p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTGGCAGCCCAGGATGGTGG	0.652000														18			25		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158687447G>A	uc021pbn.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000														34			32		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50530945	50530945	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:50530945C>T	uc003tpg.4	-	13	1628	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	DDC_uc022ade.1_Missense_Mutation_p.R398Q|DDC_uc003tpf.4_Missense_Mutation_p.R476Q|DDC_uc022adb.1_Missense_Mutation_p.R438Q|DDC_uc022adc.1_Missense_Mutation_p.R428Q|DDC_uc022add.1_Missense_Mutation_p.R383Q	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	476					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTCTCTGCTCGCAGCACGTC	0.597000														8			3		0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611578	42611578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:42611578G>A	uc003xpj.3	-	4	1120	c.764C>T	c.(763-765)tCa>tTa	p.S255L	CHRNA6_uc011lcw.2_Missense_Mutation_p.S240L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	255						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGTTAGAAATGAAATAAAGAG	0.378000														9			14		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989329	5989329	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:5989329G>A	uc010qzu.2	-	0	396	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	132						integral to membrane|plasma membrane	olfactory receptor activity										AGTACTGTAGGGGCTTGCAGA	0.478000														10			3		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053641	142053641	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:142053641A>G	uc003iio.1	-	0	976	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	RNF150_uc010iok.1_Missense_Mutation_p.F108L|RNF150_uc003iip.1_Missense_Mutation_p.F108L	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	108	PA.					integral to membrane	zinc ion binding	p.N108K(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GGGGCGGCGAACTTGGTGTTG	0.677000														2			5		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013458	99013458	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:99013458G>A	uc010fij.3	+	7	1978	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	CNGA3_uc002syt.3_Missense_Mutation_p.D609N|CNGA3_uc002syu.3_Missense_Mutation_p.D591N			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	609					signal transduction|visual perception	integral to membrane	cGMP binding	p.I612I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCTGATGAAAGACAACCTGAT	0.612000														16			14		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454097	35454097	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:35454097G>A	uc001mwf.3	-	11	2064	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	PAMR1_uc001mwg.3_Missense_Mutation_p.P657L|PAMR1_uc010rew.2_Missense_Mutation_p.P546L|PAMR1_uc010rex.2_Missense_Mutation_p.P617L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	657	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GATATCAGAAGGGGCAGTGGG	0.592000														20			17		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123262141	123262141	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:123262141T>A	uc001udc.3	+	1	302	c.140T>A	c.(139-141)aTg>aAg	p.M47K	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	47						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CTCAATGACATGGTTGCAGTG	0.443000														16			9		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162387	130162387	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:130162387G>A	uc010htj.1	+	35	7049	c.6555G>A	c.(6553-6555)gaG>gaA	p.E2185E	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.E224E|COL6A5_uc010htk.1_Silent_p.E224E	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2185	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGAGGAGAGAATATTCAAA	0.363000														11			12		0	0	1	0	0
MIR890	100126303	broad.mit.edu	37	X	145075816	145075816	+	RNA	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:145075816G>A	uc022cfo.1	-	0		c.54C>T								Homo sapiens microRNA 890 (MIR890), microRNA.																		ACTCAGAAAGGGAATAGTTAC	0.468000														5			32		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39806751	39806751	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:39806751G>A	uc010lwy.1	+	1	348	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	23					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCACATATCTGAAGAGTATGG	0.403000														2			3		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572431	120572431	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:120572431C>T	uc001txo.3	-	51	7121	c.7108G>A	c.(7108-7110)Gct>Act	p.A2370T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2370					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCAGAGCATCTGCGGCC	0.612000														39			28		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842480	150842480	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:150842480C>T	uc004fev.4	+	14	2329	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	666	Poly-Ser.					nucleus	signal transducer activity	p.S666Y(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATTTCTTCTTCCAGCATT	0.473000														11			28		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130763037	130763037	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:130763037G>A	uc003qcb.3	+	1	3848	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	TMEM200A_uc003qca.3_Silent_p.R490R|TMEM200A_uc010kfh.3_Silent_p.R490R|TMEM200A_uc010kfi.3_Silent_p.R490R|TMEM200A_uc021zfg.1_Silent_p.R490R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	490						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGAAACAAGGTTTTAATGTT	0.299000														17			9		0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97487704	97487704	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:97487704G>A	uc003uot.4	-	6	1295	c.789C>T	c.(787-789)tcC>tcT	p.S263S	ASNS_uc011kin.2_Silent_p.S180S|ASNS_uc011kio.2_Silent_p.S242S|ASNS_uc003uou.4_Silent_p.S263S|ASNS_uc003uov.4_Silent_p.S263S|ASNS_uc003uox.4_Silent_p.S180S	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	263	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAACCAAGCTGGAGTCCAAGC	0.473000														17			19		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183895276	183895276	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:183895276C>T	uc001gqm.3	+	18	2723	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	RGL1_uc010pog.2_Silent_p.A717A|RGL1_uc010poh.2_Silent_p.A717A|RGL1_uc001gqo.3_Silent_p.A719A|RGL1_uc010poi.2_Silent_p.A690A	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	719					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTTTTATGCCATGAACAGCC	0.448000														72			26		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272175	159272175	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:159272175C>T	uc001ftq.3	+	1	118	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	7						integral to plasma membrane		p.E6K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCATGGAATCCCCTACTCTAC	0.483000														121			39		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12721840	12721840	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:12721840A>G	uc001auf.3	+	2	424	c.424A>G	c.(424-426)Act>Gct	p.T142A		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	142						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCCCGGGAGACTGAATCTGT	0.493000														52			33		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160115038	160115038	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:160115038C>T	uc003lym.1	-	4	891	c.44G>A	c.(43-45)aGa>aAa	p.R15K	ATP10B_uc003lyp.2_Missense_Mutation_p.R15K|ATP10B_uc011deg.1_Missense_Mutation_p.R59K|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	15					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCTGACTCTCCACTGCCA	0.547000														4			37		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:131861957G>A	uc003ytd.4	-	9	2559	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	768					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P768R(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGGATGAGGGGCAAACATTT	0.473000										HNSCC(32;0.087)				47			8		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:18716344G>A	uc001rdt.3	+	26	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000														7			7		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12248673	12248673	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:12248673C>T	uc001mjz.3	+	14	2278	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	MICAL2_uc010rch.1_Missense_Mutation_p.P664S|MICAL2_uc001mka.3_Missense_Mutation_p.P664S|MICAL2_uc010rci.2_Missense_Mutation_p.P664S|MICAL2_uc001mkb.3_Missense_Mutation_p.P664S|MICAL2_uc001mkc.3_Missense_Mutation_p.P664S|MICAL2_uc001mkd.3_Missense_Mutation_p.P493S|MICAL2_uc010rcj.2_Missense_Mutation_p.P66S	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	664						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGGACTCCACGGGTAAG	0.453000														21			8		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154859807	154859807	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:154859807G>A	uc010hvr.1	+	10	1196	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	MME_uc003fab.1_Missense_Mutation_p.E329K|MME_uc003fac.1_Missense_Mutation_p.E329K|MME_uc003fad.1_Missense_Mutation_p.E329K|MME_uc003fae.1_Missense_Mutation_p.E329K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	329					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTCACAAATGAAATCATGTC	0.343000														7			22		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28979973	28979973	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:28979973C>T	uc001usb.3	-	10	1780	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	FLT1_uc010aar.1_Missense_Mutation_p.G499R|FLT1_uc001usc.3_Missense_Mutation_p.G499R|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_5'UTR|FLT1_uc010tdp.1_Missense_Mutation_p.G499R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	499	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTCTGTTTCCCATGTTGCTG	0.368000														34			42		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862627	5862627	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:5862627C>T	uc010qzq.2	-	0	501	c.501G>A	c.(499-501)agG>agA	p.R167R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAGGGCAACCTTAAGAGGA	0.488000														50			36		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580881	11580881	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:11580881G>A	uc001ash.4	+	9	2476	c.2338G>A	c.(2338-2340)Ggc>Agc	p.G780S	PTCHD2_uc001asi.1_Missense_Mutation_p.G780S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	780					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGCGCCGAGGGCATCTCCTG	0.647000														9			7		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372804	24372804	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:24372804G>A	uc002dmf.3	+	3	1770	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E190*(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATCATCGCAGAAATTGTAGG	0.468000														110			38		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95021281	95021281	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:95021281C>T	uc004art.1	-	19	2129	c.1872_splice	c.e19-1	p.R624_splice	IARS_uc004ars.1_Splice_Site_p.R469_splice|IARS_uc004aru.3_Splice_Site_p.R624_splice|IARS_uc010mqr.2_Splice_Site_p.R514_splice|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	624					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGATATAATCTGGAAGAGGG	0.413000														15			5		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299931	10299931	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:10299931A>C	uc002gmm.2	-	31	4562	c.4467T>G	c.(4465-4467)aaT>aaG	p.N1489K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1489					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCATAGACATTCTTCACCT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					20			14		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699760	17699760	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:17699760C>T	uc002grm.3	+	2	3967	c.3498C>T	c.(3496-3498)ggC>ggT	p.G1166G	RAI1_uc002grn.1_Silent_p.G1166G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1166						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCTGAGGGCCGGCTCCCCA	0.642000														27			25		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554606	42554606	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:42554606C>T	uc003gwr.2	-	16	1667	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ATP8A1_uc003gws.2_Missense_Mutation_p.E464K|ATP8A1_uc011byz.1_Missense_Mutation_p.E464K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	479					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAAGAAATTCACATATTATA	0.373000														14			15		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361702	188361702	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:188361702G>A	uc002upy.3	-	2	520	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TFPI_uc002uqa.2_Silent_p.F75F|TFPI_uc002uqb.2_Silent_p.F75F	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	75	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACTGTCGAGTGAAAATATTGA	0.388000														20			10		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109702050	109702050	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:109702050C>T	uc001tob.3	+	49	6920	c.6801C>T	c.(6799-6801)ctC>ctT	p.L2267L	ACACB_uc001toc.3_Silent_p.L2267L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L933L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2267	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACCTGATCTCTCCGACAAGG	0.557000											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			53		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646609	4646609	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:4646609G>A	uc002fyu.2	+	4	1186	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	ZMYND15_uc002fyv.2_Missense_Mutation_p.E386K|ZMYND15_uc002fyt.2_Missense_Mutation_p.E386K	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	386							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGTGACCAGTGAAACCTTCAA	0.542000														100			61		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072138	240072138	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:240072138C>A	uc021plc.1	+	0	1387	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	CHRM3_uc001hyp.3_Missense_Mutation_p.L463M	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	463					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGAAGCCACTCTGGCCAAGAG	0.542000														18			25		3.08376e-08	3.11808e-08	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013426	73013426	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:73013426A>C	uc003hgg.2	+	3	1564	c.1466A>C	c.(1465-1467)aAc>aCc	p.N489T	NPFFR2_uc010iig.2_Missense_Mutation_p.N271T|NPFFR2_uc003hgi.2_Missense_Mutation_p.N390T|NPFFR2_uc003hgh.2_Missense_Mutation_p.N387T	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	489					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)			ACATTTCAAAACCCTCATGGG	0.383000														44			3		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102424	155102424	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:155102424G>A	uc002tyt.4	+	4	890	c.786G>A	c.(784-786)ctG>ctA	p.L262L	GALNT13_uc002tyr.4_Silent_p.L262L|GALNT13_uc010foc.1_Silent_p.L81L|GALNT13_uc010fod.3_Silent_p.L15L	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	262						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTGGAAACTGAATTTCCGCT	0.408000														16			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502597	130502597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:130502597C>T	uc004bsc.3	-	9	2282	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	SH2D3C_uc010mxo.3_Missense_Mutation_p.G554S|SH2D3C_uc004bry.3_Missense_Mutation_p.G556S|SH2D3C_uc004brz.4_Missense_Mutation_p.G360S|SH2D3C_uc011mak.2_Missense_Mutation_p.G360S|SH2D3C_uc004bsb.3_Missense_Mutation_p.G646S|SH2D3C_uc004bsa.3_Missense_Mutation_p.G557S	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	714	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGGCACCCTCTGTGTGT	0.592000														24			20		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133936604	133936604	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133936604C>T	uc004caa.1	+	12	2439	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	781	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCCCGGGCCAGAGAGGTAA	0.692000														14			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232371	21232371	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21232371G>A	uc002red.3	-	25	7497	c.7369C>T	c.(7369-7371)Ctg>Ttg	p.L2457L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2457					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTAGTTCCAGAGCCTGAATT	0.393000														51			29		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	GL000209.1	18712	18712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrGL000209.1:18712C>T	uc010euy.2	+	5	1038	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	345						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCTCCTTCATCGCTGGTGTGC	0.527000														1			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596732	158596732	+	Silent	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158596732G>T	uc001fst.1	-	40	5929	c.5730C>A	c.(5728-5730)acC>acA	p.T1910T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1910					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAGAAGGGGTCTTTTCAT	0.433000														83			33		1.836e-18	1.87733e-18	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395735	154395735	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:154395735G>A	uc010jih.1	+	0	2476	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	772	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGACAGAAAGATCCTGGCTC	0.463000														14			10		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37194011	37194011	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:37194011C>T	uc002xiw.3	+	24	3964	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	RALGAPB_uc002xix.3_Missense_Mutation_p.S1233F|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.S1015F	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1236	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGTGATTTCCTCTGAAGAT	0.373000														92			33		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88717135	88717135	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:88717135C>T	uc001kea.3	-	1	291	c.164_splice	c.e1+1	p.R55_splice	MMRN2_uc010qmn.2_Splice_Site|MMRN2_uc009xtb.2_Splice_Site_p.R55_splice|SNCG_uc001keb.2_5'Flank	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	55	EMI.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCCCTCTTACCGTCCTACGGG	0.607000														57			39		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570174	61570174	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:61570174A>C	uc010xeu.2	+	8	1216	c.883A>C	c.(883-885)Acc>Ccc	p.T295P	SERPINB2_uc002ljo.3_Missense_Mutation_p.T295P|SERPINB2_uc002ljp.1_Missense_Mutation_p.T100P|SERPINB2_uc002ljq.1_Missense_Mutation_p.T100P	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	295					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAACAAGTGGACCAGCAAAGA	0.368000														10			5		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009215	88009215	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:88009215T>A	uc022bzq.1	+	0	800	c.800T>A	c.(799-801)aTc>aAc	p.I267N	CPXCR1_uc004efd.4_Missense_Mutation_p.I267N|CPXCR1_uc004efc.4_Missense_Mutation_p.I267N	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	267						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AATGTTATGATCACAAACACC	0.338000														1			7		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646003	24646003	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:24646003G>A	uc002wtw.1	+	3	1273	c.640G>A	c.(640-642)Ggg>Agg	p.G214R		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	214					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGTGGCCAAGGGGGACTTGCA	0.592000														124			39		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813565	106813565	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:106813565G>A	uc003ymd.3	+	7	1278	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E150K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	419					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACCAGAAGCGAACTTCCCCA	0.498000														62			15		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483540	71483540	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:71483540G>A	uc002faf.3	-	5	1202	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	ZNF23_uc002fah.3_Nonsense_Mutation_p.Q130*|ZNF23_uc002fad.3_Nonsense_Mutation_p.Q72*|ZNF23_uc010vmf.2_Nonsense_Mutation_p.Q72*|ZNF23_uc002fag.3_Nonsense_Mutation_p.Q72*|ZNF23_uc002fai.3_Nonsense_Mutation_p.Q169*	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTATGACACTGATATGAGTTT	0.408000														45			41		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110850868	110850868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:110850868C>T	uc001vqw.4	-	20	1353	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	411	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCGGGAGCCCATCTCTTCCA	0.592000														25			25		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493667	3493667	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:3493667G>A	uc010vro.2	-	3	657	c.624C>T	c.(622-624)atC>atT	p.I208I	TRPV1_uc010vrp.2_Silent_p.I208I|TRPV1_uc010vrq.2_Silent_p.I206I|TRPV1_uc010vrr.2_Silent_p.I208I|TRPV1_uc010vrs.2_Silent_p.I208I|TRPV1_uc010vrt.2_Silent_p.I208I|TRPV1_uc010vru.2_Silent_p.I208I	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	208					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TCTCGATGGCGATGTGCAGTG	0.632000														24			17		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719967	70719967	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:70719967G>T	uc003heo.3	-	3	450	c.337C>A	c.(337-339)Ctt>Att	p.L113I	SULT1E1_uc010ihv.1_Missense_Mutation_p.L113I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	113					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGGCAGGAAGAAGTTCAGGT	0.353000														22			9		3.07112e-06	3.09055e-06	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55135474	55135474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55135474G>A	uc010rif.2	+	0	115	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAATGTGACTGAATTTATCCT	0.398000														26			7		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744141	45744141	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:45744141G>A	uc003tne.4	+	16	2761	c.2743G>A	c.(2743-2745)Gac>Aac	p.D915N		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	915					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTTTACAAGGACATAGAGAA	0.512000														29			12		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84804416	84804416	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:84804416C>T	uc010fgb.3	+	12	2097	c.1960C>T	c.(1960-1962)Cac>Tac	p.H654Y	DNAH6_uc002soo.3_Missense_Mutation_p.H233Y|DNAH6_uc002sop.3_Missense_Mutation_p.H233Y	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAAAAATATCACAAACAGCA	0.323000														11			4		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999107	46999107	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:46999107G>A	uc001jec.3	+	2	362	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	GPRIN2_uc021ppt.1_Missense_Mutation_p.R76Q	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	76										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGCCAGCACGGGCCTCTGGC	0.697000														42			9		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636767	19636767	+	RNA	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:19636767G>A	uc001umb.1	-	5		c.815C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TCATAGTTTGGGCAGTGGTAT	0.557000														12			6		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:4825340G>A	uc021qcs.1	-	0	271	c.271C>T	c.(271-273)Cat>Tat	p.H91Y		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000														32			14		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600779	29600779	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:29600779C>T	uc001usl.4	+	0	2032	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	648	Mediates interaction with MAPRE1.					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						TCACCTACATCAGGAGGAATC	0.557000														9			10		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935905	209935905	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:209935905C>T	uc001hho.3	+	3	811	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.P131S|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.P111S|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.P131S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	131						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCATCCTCCTCCCTCAGGCAT	0.582000														15			25		0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639670	30639670	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:30639670C>T	uc003agz.2	-	2	691	c.579G>A	c.(577-579)caG>caA	p.Q193Q	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	193					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CGGCGATGATCTGCTTATACT	0.577000														64			26		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53126424	53126424	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:53126424C>T	uc003dgj.3	-	11	1473	c.1419G>A	c.(1417-1419)ggG>ggA	p.G473G		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	473					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)		GGGCAAATGTCCCGAGCAGGA	0.617000														2			4		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113288814	113288814	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:113288814G>A	uc001pnz.3	-	1	651	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DRD2_uc010rwv.2_Silent_p.F109F|DRD2_uc001poa.4_Silent_p.F110F|DRD2_uc001pob.4_Silent_p.F110F|DRD2_uc009yyr.1_Silent_p.F110F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	110					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCAGAGTGACGAAGATGTCAC	0.537000														3			10		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064610	7064610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:7064610G>A	uc001qsb.2	+	5	951	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PTPN6_uc001qsa.1_Missense_Mutation_p.E239K|PTPN6_uc010sfr.1_Missense_Mutation_p.E198K|PTPN6_uc009zfl.1_Missense_Mutation_p.E237K|PTPN6_uc010sfs.1_Missense_Mutation_p.E225K	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	237					G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.S236S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCAGGAGTCCGAGGATACAGC	0.622000														57			38		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882154	78882154	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:78882154G>A	uc002bdy.3	+	4	621	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	141					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TAGTGCAGATGGACGTTTTGA	0.373000														20			13		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49030720	49030720	+	Silent	SNP	A	G	G	rs145720375	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:49030720A>G	uc003gyv.3	+	9	1523	c.1341A>G	c.(1339-1341)ctA>ctG	p.L447L	CWH43_uc011bzl.2_Silent_p.L420L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	447					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGTCTAGTCTAGAAAGATCAG	0.413000														15			7		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191354495	191354495	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:191354495G>A	uc002urz.2	+	6	2117	c.1793_splice	c.e6-1	p.G598_splice	MFSD6_uc010zge.1_Splice_Site_p.G60_splice	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	598					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTTTTATAGGGGCTGCTGCAA	0.463000														9			8		0	0	1	0	0
NDFIP2	54602	broad.mit.edu	37	13	80122489	80122489	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:80122489C>T	uc001vlf.3	+	5	947	c.867C>T	c.(865-867)ttC>ttT	p.F289F	NDFIP2_uc010tib.2_Silent_p.F269F|NDFIP2_uc001vlg.3_Intron	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.	289					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CTGGATATTTCAATGGACAGT	0.279000														92			70		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17409124	17409124	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:17409124G>A	uc001baf.3	-	9	1156	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PADI2_uc010ocm.2_Silent_p.I242I|PADI2_uc001bag.1_Silent_p.I358I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	358					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGGGGGCCTCGATGTAGCCAA	0.527000														23			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743715	38743715	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:38743715C>T	uc021yzh.1	+	12	2059	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	DNAH8_uc003ooe.2_Silent_p.I433I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGACAAAAATCAATGGTTTAG	0.308000														56			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966172	20966172	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:20966172G>T	uc010vbe.2	-	54	11034	c.11034C>A	c.(11032-11034)caC>caA	p.H3678Q	DNAH3_uc010vbd.2_Missense_Mutation_p.H1113Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3678	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAACAACGGCGTGGAAGAAAC	0.493000														77			28		3.73988e-18	3.8118e-18	1	1	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833734	32833734	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:32833734C>T	uc002kyl.3	-	4	1621	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	ZNF397_uc002kyj.3_Intron|ZNF397_uc010dmq.3_Intron|ZNF397_uc010dmr.3_Intron|ZSCAN30_uc002kym.3_Missense_Mutation_p.E389K	NM_001166012	NP_001159484	Q86W11	ZSC30_HUMAN	Homo sapiens zinc finger and SCAN domain containing 30 (ZSCAN30), mRNA.	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						TTCCCACATTCTCCACATTCA	0.458000														29			33		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579695	55579695	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55579695C>T	uc001nhw.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCACTGTCTTCCATGGAACAG	0.517000														29			31		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635433	122635433	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:122635433C>T	uc003vkl.1	-	0	322	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	86					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATTCCCAGGTGATT	0.393000														14			10		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914770	119914770	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:119914770G>A	uc003vjj.1	+	0	1049	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	28					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGCCTATGCCGGCTCCCCCGA	0.622000														93			71		0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822562	73822563	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:73822562_73822563CC>TT	uc001jso.2	-	10	1675_1676	c.1230_1231GG>AA	c.(1228-1233)gaggag>gaAAag	p.E411K	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.E411K	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	411	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTCGCcctcctcctcctcgg	0.663000														23			4		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744446	744446	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:744446T>A	uc002wed.4	-	2	1108	c.769A>T	c.(769-771)Aat>Tat	p.N257Y	SLC52A3_uc002wee.2_Missense_Mutation_p.N257Y	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	257					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ACCTGGTCATTGAGGAGGTCT	0.617000														29			35		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998520	72998520	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:72998520G>A	uc002lly.3	+	1	1586	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	TSHZ1_uc021uln.1_Silent_p.A341A	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	386						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAAGCAGCGAACCCGTACG	0.632000														31			21		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188241	32188241	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:32188241C>T	uc003obb.3	-	5	1239	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.G367E	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	367	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGGTGGATCCCGGGGCACA	0.597000														121			52		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670594	186670594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:186670594G>A	uc002upl.3	+	16	16828	c.16828G>A	c.(16828-16830)Gat>Aat	p.D5610N	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGGAAGTGGATGAAAATAA	0.353000														32			20		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113593146	113593146	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:113593146C>T	uc002tii.1	-	2	183	c.96G>A	c.(94-96)atG>atA	p.M32I	IL1B_uc002tih.1_Missense_Mutation_p.M1I	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	32					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTCTTACCTTCATCTGTTTAG	0.423000														14			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541288	55541288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:55541288G>A	uc003xsd.1	+	3	4994	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1616					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	p.G1615G(1)		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)			TGACAGTGGCGAACTTACCCA	0.398000														30			75		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900640	46900640	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:46900640C>T	uc002zhi.3	+	11	2040	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	COL18A1_uc002zhg.3_Silent_p.P493P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	908	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGACCTCCCGGACCCCCCG	0.701000														53			3		0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30254508	30254508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:30254508G>A	uc002ymo.1	-	2	312	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	N6AMT1_uc002ymp.1_Missense_Mutation_p.H96Y|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	96					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGTTGAATGTGAACTTTGTTA	0.358000														23			8		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118815	39118815	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39118815C>T	uc002hvo.1	-	4	745	c.709_splice	c.e4-1	p.E237_splice	KRT39_uc010wfm.1_Splice_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GAATTGATTTCCTAAGGAAAG	0.408000														38			28		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394164	45394164	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:45394164T>C	uc001zun.3	-	20	2881	c.2678A>G	c.(2677-2679)aAc>aGc	p.N893S	DUOX2_uc010bea.3_Missense_Mutation_p.N893S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	893					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGACAGGCAGTTGTTGGAGAT	0.597000														4			6		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39839615	39839615	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:39839615G>A	uc003guv.4	-	31	4411	c.3871C>T	c.(3871-3873)Cct>Tct	p.P1291S		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1291					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTTAATAGGTTTATTTAGA	0.502000														14			6		0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154335006	154335006	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:154335006C>T	uc002tyq.1	-	0	317	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	25					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						GCGCACGGCTCGCTCCAGCGC	0.706000														14			7		0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15631096	15631096	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:15631096G>A	uc003caf.3	-	4	492	c.332C>T	c.(331-333)tCc>tTc	p.S111F	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Missense_Mutation_p.S84F|HACL1_uc011avt.2_Missense_Mutation_p.S111F|HACL1_uc003cag.3_Intron|HACL1_uc011avu.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	111					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCTTTCAGAGGAACCACCAAT	0.323000														84			39		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874950	20874950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:20874950G>A	uc010sii.2	+	8	1343	c.988G>A	c.(988-990)Gga>Aga	p.G330R	SLCO1C1_uc010sij.2_Missense_Mutation_p.G281R|SLCO1C1_uc009zip.3_Missense_Mutation_p.G164R|SLCO1C1_uc001rei.3_Missense_Mutation_p.G330R|SLCO1C1_uc010sik.2_Missense_Mutation_p.G212R	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	330					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AACACCCCAGGGAGAAAATGC	0.338000														11			8		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021113	45021113	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45021113C>T	uc010ejn.1	-	5	1219	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	CEACAM20_uc010ejo.1_Silent_p.L401L|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	401	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCCTGATAATCAGCTGCTCAC	0.602000														3			4		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915334	156915334	+	Missense_Mutation	SNP	G	A	A	rs35242691		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:156915334G>A	uc003lwz.3	-	20	2568	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	ADAM19_uc003lww.2_Missense_Mutation_p.S563L|ADAM19_uc003lwy.3_Missense_Mutation_p.S429L|ADAM19_uc011ddr.1_Missense_Mutation_p.S761L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	830					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.S831*(1)|p.S830*(1)		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)			CCTCCTGGACGACTCCGTCCT	0.602000														66			45		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106406096	106406096	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:106406096C>T	uc021ser.1	-	3032		c.49814_splice	c.e3032-1							Parts of antibodies, mostly variable regions.																		AGCCAGAATTCAGCAGGCTCT	0.577000														11			9		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:126746621G>A	uc003vlr.2	-	1	967	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S219L|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	219					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S219S(3)|p.S219L(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCAGTGTCGAAACATAATT	0.493000										HNSCC(24;0.065)				18			9		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873332	55873332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55873332C>T	uc010riy.2	+	0	814	c.814C>T	c.(814-816)Caa>Taa	p.Q272*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q272Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGGAAGAGATCAAGTGGCTTC	0.368000										HNSCC(53;0.14)				29			23		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868835	14868835	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:14868835C>T	uc003zlm.3	-	2	957	c.141G>A	c.(139-141)ctG>ctA	p.L47L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	47					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGCAAACTTCAGGTCATCTC	0.552000														3			4		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149026	142149026	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:142149026C>T	uc010lnw.1	-	1	327	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCTGAGAATCGATCAGGGAA	0.517000														44			26		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616957	77616957	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77616957C>T	uc003yau.2	+	1	1021	c.634C>T	c.(634-636)Cca>Tca	p.P212S	ZFHX4_uc003yat.1_Missense_Mutation_p.P212S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P212S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGGCTTTCCCAAATACCTC	0.468000										HNSCC(33;0.089)				39			6		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231310	147231310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:147231310C>T	uc021ovl.1	-	0	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	GJA5_uc001eps.1_Missense_Mutation_p.E13K|GJA5_uc001ept.1_Missense_Mutation_p.E13K	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	13					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGTGTACTTCCTCCAGGAAA	0.527000														29			40		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153752344	153752344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:153752344C>T	uc001fcz.3	+	9	2124	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	687					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGAAAGTTCGGATGGCAAA	0.592000														22			34		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712784	70712784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:70712784C>T	uc010ttg.2	-	0	1735	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GAGTTGATTTCTTTATAGCAA	0.388000														78			22		0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919095	46919095	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:46919095C>T	uc010wlr.2	+	1	105	c.26C>T	c.(25-27)cCc>cTc	p.P9L	CALCOCO2_uc010wlq.2_Intron|CALCOCO2_uc010wls.2_Missense_Mutation_p.P9L|CALCOCO2_uc002iof.3_Missense_Mutation_p.P9L|CALCOCO2_uc010wlp.2_Missense_Mutation_p.P9L	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	9					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	p.P9S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AAAGATCCCCCCACATCAGCT	0.463000														11			16		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45767988	45767988	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45767988G>A	uc002pbb.2	+	4	733	c.402G>A	c.(400-402)gtG>gtA	p.V134V	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Silent_p.V134V|MARK4_uc002pbc.1_5'UTR	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	134	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACCTGGTGATGGAGTACG	0.607000														65			37		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740153	2740153	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:2740153C>T	uc003smr.1	+	1	429	c.68C>T	c.(67-69)tCc>tTc	p.S23F	AMZ1_uc003sms.1_Missense_Mutation_p.S23F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	23							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCTCTGGTCTCCACTGACGCA	0.672000														98			64		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505144	37505144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:37505144C>T	uc021ppc.1	+	31	2836	c.2737C>T	c.(2737-2739)Cat>Tat	p.H913Y	ANKRD30A_uc001iza.1_Missense_Mutation_p.H913Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	969						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						GGATACAGTTCATTCTTGTGA	0.328000														18			16		0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8349084	8349084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:8349084G>A	uc002glj.3	+	2	339	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	NDEL1_uc002gli.3_Missense_Mutation_p.E48K	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	48					chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CAGAGAATTAGAAGCAGAGTT	0.428000														29			29		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782308	107782308	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:107782308C>T	uc003ymm.4	-	0	165	c.111G>A	c.(109-111)gcG>gcA	p.A37A		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	37					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTTCTCATTCGCCCACTGCT	0.627000														56			125		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749334	6749334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:6749334C>T	uc001qpu.1	-	7	1365	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.M406I	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	439						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						ACCAGAAGTCCATGTGGAGCC	0.597000														21			10		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517807	20517807	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:20517807T>A	uc001bdb.3	+	1	837	c.753T>A	c.(751-753)ttT>ttA	p.F251L	UBXN10_uc021oia.1_Missense_Mutation_p.F251L	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	251	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GGAGGCGATTTTCTGACCTCA	0.522000														38			30		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766228	77766228	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77766228T>A	uc003yau.2	+	9	7458	c.7071T>A	c.(7069-7071)gaT>gaA	p.D2357E	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2312E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCACTGATCAAGTGGTAT	0.493000										HNSCC(33;0.089)				68			153		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076256	87076256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:87076256C>T	uc011lfy.2	-	1	790	c.790G>A	c.(790-792)Gat>Aat	p.D264N		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	264	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGGCTTTCATCATCAAAAGGC	0.398000														61			13		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568307	49568307	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:49568307C>T	uc021wxz.1	+	2	832	c.363C>T	c.(361-363)ccC>ccT	p.P121P	DAG1_uc021wya.1_Silent_p.P121P|DAG1_uc021wyb.1_Silent_p.P121P|DAG1_uc021wyc.1_Silent_p.P121P|DAG1_uc021wyd.1_Silent_p.P121P|DAG1_uc021wye.1_Silent_p.P121P|DAG1_uc021wyf.1_Silent_p.P121P|DAG1_uc021wyg.1_Silent_p.P121P|DAG1_uc021wyh.1_Silent_p.P121P|DAG1_uc021wyi.1_Silent_p.P121P|DAG1_uc021wyj.1_Silent_p.P121P|DAG1_uc021wyk.1_Silent_p.P121P|DAG1_uc003cxc.4_Silent_p.P121P	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	121	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.P121L(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGGGCCTCCCCCTTGACACTG	0.572000														14			14		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538053	4538053	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:4538053G>A	uc002mau.3	-	1	954	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	315	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCCTGAAGCCAACGA	0.587000														30			36		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691629	41691629	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:41691629T>A	uc003gvz.4	+	29	4669	c.4252T>A	c.(4252-4254)Tat>Aat	p.Y1418N	LIMCH1_uc003gwe.4_Missense_Mutation_p.Y931N|LIMCH1_uc003gvu.4_Missense_Mutation_p.Y1034N|LIMCH1_uc003gvv.4_Missense_Mutation_p.Y1008N|LIMCH1_uc003gvw.4_Missense_Mutation_p.Y1007N|LIMCH1_uc003gvx.4_Missense_Mutation_p.Y1020N|LIMCH1_uc003gvy.4_Missense_Mutation_p.Y836N|LIMCH1_uc003gwa.4_Missense_Mutation_p.Y848N|LIMCH1_uc011byu.2_Missense_Mutation_p.Y867N|LIMCH1_uc003gwc.4_Missense_Mutation_p.Y853N|LIMCH1_uc003gwd.4_Missense_Mutation_p.Y841N|LIMCH1_uc011byv.2_Missense_Mutation_p.Y784N|LIMCH1_uc011byw.2_Missense_Mutation_p.Y307N	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1034					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTCAATCTCTATTTTCACAT	0.438000														26			14		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162760523	162760523	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:162760523G>A	uc002ubx.4	+	12	1636	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.G465G|SLC4A10_uc002uby.4_Silent_p.G454G	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	484					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATTTTTGGGGGACTTATTT	0.383000														1			4		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:105257282G>A	uc003yls.3	+	23	3768	c.3527G>A	c.(3526-3528)gGa>gAa	p.G1176E	RIMS2_uc003ylp.3_Missense_Mutation_p.G1158E|RIMS2_uc003ylw.2_Missense_Mutation_p.G1165E|RIMS2_uc003ylq.3_Missense_Mutation_p.G972E|RIMS2_uc003ylr.3_Missense_Mutation_p.G997E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1220					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.G1176E(1)|p.G972E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)				38			103		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881228	33881228	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:33881228C>A	uc003jia.1	-	1	648	c.485G>T	c.(484-486)gGa>gTa	p.G162V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G162V|ADAMTS12_uc003jib.1_Missense_Mutation_p.G162V	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	162					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTCACCAGTCCATGGCAGGC	0.582000										HNSCC(64;0.19)				25			18		0.00741294	0.00741294	1	1	0
TRBV5-5	28610	broad.mit.edu	37	7	142149356	142149356	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:142149356G>A	uc010lnw.1	-	0	119	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCTACCAGGAGACAAAGCAGC	0.612000														25			17		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152443613	152443613	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:152443613G>A	uc021zhb.1	-	143	26575	c.26352C>T	c.(26350-26352)ttC>ttT	p.F8784F	SYNE1_uc003qos.4_Silent_p.F3308F|SYNE1_uc003qot.4_Silent_p.F8736F|SYNE1_uc003qou.4_Silent_p.F8784F|SYNE1_uc011eez.2_3'UTR|SYNE1_uc003qoq.4_3'UTR|SYNE1_uc003qor.4_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8784	KASH.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGGGGTGGAATGACCGGG	0.537000										HNSCC(10;0.0054)				31			13		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063191	72063191	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:72063191G>A	uc021rkj.1	-	6	2089	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	DACH1_uc021rkk.1_Missense_Mutation_p.P408S|DACH1_uc021rkl.1_Missense_Mutation_p.P354S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAGGAGATGGAAAACCTGGA	0.468000														121			56		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546518	11546518	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11546518T>G	uc010shk.1	-	2	529	c.494A>C	c.(493-495)cAa>cCa	p.Q165P		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTTGTCTCCTTGTGGGGGTGG	0.607000														534			114		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14805142	14805142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:14805142G>A	uc003zlm.3	-	19	4099	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1095					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTCCACTGAAATGAATCT	0.388000														38			27		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593319	135593319	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:135593319C>T	uc004ezw.3	+	9	1837	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	HTATSF1_uc004ezx.3_Missense_Mutation_p.P472L	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	472	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGGGCTGCCCCAAAAGAGGG	0.448000														9			21		0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34101304	34101304	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:34101304C>G	uc001mvh.1	+	6	1007	c.818C>G	c.(817-819)cCt>cGt	p.P273R	CAPRIN1_uc001mvg.3_Missense_Mutation_p.P273R|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P273R|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P192R	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	273					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GACCAGGTACCTGAAGCTGGT	0.413000														15			6		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291742	163291743	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:163291742_163291743CT>TC	uc002uch.2	-	7	2148_2149	c.1919_1920AG>GA	c.(1918-1920)gag>gGA	p.E640G	KCNH7_uc002uci.3_Missense_Mutation_p.E633G	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	640					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAAGATTTTCTCCGAATTCGT	0.351000														20			21		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709320	102709320	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:102709320C>T	uc001phj.1	-	7	1256	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	397	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATGTTTTGTTCTTTTCCTTAT	0.413000														10			22		0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076948	49076948	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:49076948G>A	uc010tgg.2	-	9	1335	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	RCBTB2_uc001vci.3_Silent_p.I319I|RCBTB2_uc010tgh.2_Silent_p.I69I|RCBTB2_uc001vch.3_Silent_p.I343I|RCBTB2_uc001vcj.3_Silent_p.I295I|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.P272S	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	343							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGTGCGGGAGGATCACGGACT	0.632000														49			36		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:207172439G>A	uc002vbp.2	+	4	3437	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1063							nucleic acid binding|zinc ion binding	p.E1063*(3)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000														9			12		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888430	191888430	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:191888430C>T	uc003fsx.3	-	3	1256	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FGF12_uc003fsy.3_Missense_Mutation_p.E82K	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	144					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AATTTGCATTCTGGAGTGAAA	0.363000														15			42		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875258	51875258	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:51875258G>A	uc002pwj.3	-	2	546	c.375C>T	c.(373-375)atC>atT	p.I125I	NKG7_uc002pwk.3_Silent_p.I90I	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	125						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAAGGTCTGGATCTGGGGGT	0.607000														34			34		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497329	149497329	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:149497329C>T	uc003lro.3	-	21	3458	c.2989G>A	c.(2989-2991)Ggc>Agc	p.G997S	PDGFRB_uc010jhd.3_Missense_Mutation_p.G836S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	997					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATCGGAGGCCATGGAACCCA	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									29			19		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63511135	63511135	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:63511135C>T	uc002lkb.3	+	6	1495	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	CDH7_uc002ljz.3_Missense_Mutation_p.P357S|CDH7_uc002lka.3_Missense_Mutation_p.P357S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGCTTGGGTCCGTTCAGTGA	0.473000														28			27		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22783080	22783080	+	RNA	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:22783080C>T	uc002nqu.4	+	4		c.587C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		AGGACAGCTCCAAGCCCAGGT	0.647000														4			4		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21798502	21798502	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:21798502C>T	uc001wag.3	+	18	3194	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	RPGRIP1_uc001wah.3_Missense_Mutation_p.S707F|RPGRIP1_uc001wai.3_Missense_Mutation_p.S391F|RPGRIP1_uc001wak.3_Missense_Mutation_p.S540F|RPGRIP1_uc010aim.3_Missense_Mutation_p.S448F|RPGRIP1_uc001wal.3_Missense_Mutation_p.S424F|RPGRIP1_uc001wam.3_Missense_Mutation_p.S382F	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	1065	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATGACATTATCCCATTCAGCA	0.418000														27			17		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32657337	32657337	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:32657337C>T	uc001mtv.3	-	13	1134	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	CCDC73_uc001mtw.1_Missense_Mutation_p.E354K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	364										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GATGATAATTCATTTTTAATC	0.244000														7			3		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593966	123593966	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:123593966C>T	uc003vle.3	+	2	781	c.342C>T	c.(340-342)atC>atT	p.I114I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.I114I|SPAM1_uc022aks.1_Silent_p.I114I|SPAM1_uc003vlf.4_Silent_p.I114I|SPAM1_uc010lku.3_Silent_p.I114I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	114					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATGGAGGAATCCCCCAGAAGA	0.398000														27			18		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43241437	43241437	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:43241437G>C	uc002yzq.1	-	22	3255	c.3144C>G	c.(3142-3144)gaC>gaG	p.D1048E	PRDM15_uc002yzo.3_Missense_Mutation_p.D719E|PRDM15_uc002yzp.3_Missense_Mutation_p.D739E|PRDM15_uc002yzr.1_Missense_Mutation_p.D739E	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACGTTGGGGTCCGGCAGGT	0.587000														64			37		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072956	17072956	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:17072956G>A	uc002zlp.1	-	0	745	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	162					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGGGCCCAGGATGGATCTTC	0.632000														35			27		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596495	24596495	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:24596495T>A	uc011djo.2	-	2	907	c.407A>T	c.(406-408)gAt>gTt	p.D136V	KIAA0319_uc011djp.2_Missense_Mutation_p.D91V|KIAA0319_uc003neh.1_Missense_Mutation_p.D136V|KIAA0319_uc011djq.1_Missense_Mutation_p.D127V|KIAA0319_uc011djr.1_Missense_Mutation_p.D136V	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	136					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTTCTGATATCCTCAGGTGA	0.567000														69			14		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67149467	67149467	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:67149467G>A	uc010dfa.1	-	34	4994	c.4115C>T	c.(4114-4116)cCc>cTc	p.P1372L	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.P364L|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGCCCCTCGGGGTCCATCCC	0.483000														81			39		0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273408	145273408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:145273408G>A	uc001emn.4	+	2	632	c.262G>A	c.(262-264)Gat>Aat	p.D88N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.D88N|NOTCH2NL_uc001emo.2_Missense_Mutation_p.D88N|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	88	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.R87L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCTCAGCCGGGATACCTATGA	0.488000														314			21		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:22368758C>T	uc010tzu.2	+	0	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388000														125			66		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454874	84454874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:84454874C>T	uc001vlk.3	-	0	1655	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	257	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAGTCCTGTTCGGTGGTTTCA	0.547000														38			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21053352	21053352	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21053352G>A	uc010vbe.2	-	31	4635	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1545	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTTACCTTGAGATTGTCGG	0.527000														47			18		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52189567	52189567	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:52189567C>T	uc003jou.3	+	8	1400	c.986C>T	c.(985-987)tCa>tTa	p.S329L	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	329	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAAATAAAATCAATTGCAAGT	0.348000														35			18		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51968672	51968672	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:51968672G>A	uc003dbw.1	-	11	1194	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	385					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGTGTTGAGGAGGGCTGCCA	0.662000														43			48		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:145360624G>A	uc021oul.1	+	73	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3083								p.S3083S(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478000														4			3		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470899	76470899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:76470899G>A	uc003yaq.3	+	7	1009	c.739G>A	c.(739-741)Gat>Aat	p.D247N	HNF4G_uc003yar.3_Missense_Mutation_p.D284N	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	247					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D247N(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTATTTTTTGATCCAGGTTG	0.318000														201			44		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189948717	189948717	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:189948717C>T	uc002uqk.3	-	11	1120	c.845G>A	c.(844-846)gGa>gAa	p.G282E	COL5A2_uc010frx.3_Missense_Mutation_p.G35E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	282					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACCGGAGATCCTGCAAATCC	0.363000														12			11		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821052	159821052	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:159821052G>A	uc003lye.1	-	1	1910	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	C5orf54_uc003lyf.1_Silent_p.I482I|C5orf54_uc021yhc.1_Silent_p.I482I	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	482										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						caacaaaatcgatattaaaaa	0.333000														7			22		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74117703	74117703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:74117703G>A	uc003pgw.3	+	8	1402	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	353	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TATGGTGGTGGAAATAGAGAT	0.313000														22			21		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161059076	161059076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:161059076G>A	uc001fxo.2	-	0	310	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	4					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCTCCCAGGGACAGGGGCAT	0.582000														88			24		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64643482	64643482	+	RNA	SNP	A	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:64643482A>C	uc003ttw.3	+	5		c.889A>C								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		ACTGATAGGGACTCCATATGG	0.393000														16			4		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798354	38798354	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:38798354T>C	uc003gtl.3	-	3	2373	c.2099A>G	c.(2098-2100)aAc>aGc	p.N700S	TLR1_uc021xnn.1_Missense_Mutation_p.N700S	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	700	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity	p.P699P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTGGACAAAGTTGGGAGACAA	0.413000														64			49		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323343	31323343	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:31323343G>A	uc010dmg.1	+	11	3586	c.3531G>A	c.(3529-3531)gaG>gaA	p.E1177E	ASXL3_uc002kxq.2_Silent_p.E884E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTCCGGGAGACCACCACTG	0.448000														16			10		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54037695	54037695	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:54037695A>G	uc004dsu.3	-	7	1160	c.914T>C	c.(913-915)aTc>aCc	p.I305T	PHF8_uc004dsv.3_Missense_Mutation_p.I135T|PHF8_uc004dst.3_Missense_Mutation_p.I269T|PHF8_uc004dsw.3_Missense_Mutation_p.I269T|PHF8_uc004dsx.3_Missense_Mutation_p.I33T|PHF8_uc004dsy.3_Missense_Mutation_p.I269T	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	305	JmjC.				G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGTTGGGCGGATCAGGTAGAA	0.448000														4			7		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351271	40351271	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:40351271C>T	uc003gva.1	+	3	754	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	246					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ACCTCCTCATCCCATGCGTCC	0.522000														241			127		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097649	11097649	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:11097649C>T	uc010dxp.3	+	5	1189	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SMARCA4_uc010dxo.3_Missense_Mutation_p.P277S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P277S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P277S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P277S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P277S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P277S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P277S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P277S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	277	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.P277H(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGCCAGCCTCCTGGAGGGCC	0.617000			"""F, N, Mis"""		NSCLC									18			8		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899766	189899766	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:189899766C>T	uc002uqk.3	-	52	4504	c.4229G>A	c.(4228-4230)gGa>gAa	p.G1410E	COL5A2_uc010frx.3_Missense_Mutation_p.G986E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1410	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTCCATGTATCCTACACTGTT	0.393000														32			19		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596497	24596497	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:24596497C>T	uc011djo.2	-	2	905	c.405G>A	c.(403-405)gaG>gaA	p.E135E	KIAA0319_uc011djp.2_Silent_p.E90E|KIAA0319_uc003neh.1_Silent_p.E135E|KIAA0319_uc011djq.1_Silent_p.E126E|KIAA0319_uc011djr.1_Silent_p.E135E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	135					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTCTGATATCCTCAGGTGAGT	0.567000														72			14		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37528434	37528434	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:37528434C>T	uc003aqv.1	-	8	1024	c.893G>A	c.(892-894)gGa>gAa	p.G298E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	298					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGACGTCTCCTCCATGCTC	0.577000														17			11		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999931	108999931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:108999931C>T	uc002tea.1	+	4	953	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.R119C	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	194					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.R194H(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGACAAACACCGTATTCTCTA	0.463000														23			6		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11657690	11657690	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:11657690G>A	uc002msc.1	+	3	460	c.296G>A	c.(295-297)gGg>gAg	p.G99E	CNN1_uc010xmb.1_Missense_Mutation_p.G49E|CNN1_uc010xmc.1_Missense_Mutation_p.G49E	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	99	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						ACCAAGTATGGGGTGAAGCCC	0.582000														36			26		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105939630	105939630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:105939630C>T	uc001kxw.3	-	17	2466	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	WDR96_uc009xxq.3_Missense_Mutation_p.E92K|WDR96_uc001kxx.4_Missense_Mutation_p.E785K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	784										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGGAATTTCCTTCTTAACA	0.358000														55			21		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428477	79428477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:79428477C>T	uc002kaf.2	+	24	6602	c.6602C>T	c.(6601-6603)cCc>cTc	p.P2201L	BAHCC1_uc002kae.2_Missense_Mutation_p.P1493L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2263							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCACCCATCCCCCCGCTGCCC	0.697000														3			10		0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100275731	100275731	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:100275731G>A	uc003uwb.3	+	7	781	c.508G>A	c.(508-510)Gac>Aac	p.D170N	GNB2_uc003uwf.3_Missense_Mutation_p.D70N	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	170					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TGCCCTGTGGGACATTGAGAC	0.597000														35			24		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769807	247769807	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:247769807G>A	uc010pyz.2	+	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G307R(1)|p.S306*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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;0.017)			CTTCTCTCGGGAAAATTGTGA	0.383000														43			16		0	0	1	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986066	31986066	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:31986066G>A	uc002yop.3	-	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	53						cytosol|intermediate filament		p.S53C(2)		breast(2)|endometrium(1)|lung(7)	10						GAGGGAGCGGGAGCCATAGCC	0.582000														79			40		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765344	49765344	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:49765344G>A	uc001vcm.3	+	19	2356	c.2051_splice	c.e19-1	p.G684_splice	FNDC3A_uc001vcn.3_Splice_Site_p.G684_splice|FNDC3A_uc001vco.3_Splice_Site|FNDC3A_uc001vcq.3_Splice_Site_p.G628_splice	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	684	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCATCTTTTAGGACCCCCTCT	0.368000														23			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784826	140784826	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140784826C>T	uc003lkh.2	+	0	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.I769I|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	778					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTCCCCCAGC	0.502000														46			24		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318776	31318776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:31318776C>T	uc010dmg.1	+	10	1463	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	ASXL3_uc002kxq.2_Missense_Mutation_p.H177Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGATGAAAATCATAAGACAAT	0.403000														6			8		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179363152	179363152	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:179363152C>T	uc001gmo.3	+	9	1365	c.978C>T	c.(976-978)ttC>ttT	p.F326F	AXDND1_uc001gmn.2_Silent_p.F114F|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.F284F	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	326										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						TGTATAATTTCAAGCATGTTA	0.348000														59			30		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406588	55406588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:55406588G>A	uc003pcn.3	-	3	485	c.326C>T	c.(325-327)tCc>tTc	p.S109F	HMGCLL1_uc011dxe.2_Missense_Mutation_p.S79F|HMGCLL1_uc003pco.3_Missense_Mutation_p.S79F|HMGCLL1_uc010jzx.3_5'UTR|HMGCLL1_uc011dxc.2_Missense_Mutation_p.S79F|HMGCLL1_uc011dxd.2_Missense_Mutation_p.S79F|HMGCLL1_uc003pcp.3_Missense_Mutation_p.S79F	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	109							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.S109F(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCCAGTTTGGGAAAGTCGATT	0.313000														32			13		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223002	44223002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:44223002C>T	uc002oxh.3	+	1	439	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	IRGC_uc021uvh.1_Missense_Mutation_p.P98S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	98						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCAACCGTCGCCCTATCCACA	0.652000														28			25		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99995227	99995227	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:99995227C>T	uc001kox.4	+	8	2470	c.2120C>T	c.(2119-2121)cCc>cTc	p.P707L	C10orf28_uc001kow.4_Missense_Mutation_p.P693L|C10orf28_uc001koy.4_Missense_Mutation_p.P693L|C10orf28_uc009xvx.3_Missense_Mutation_p.P693L|C10orf28_uc009xvy.3_Missense_Mutation_p.P99L|C10orf28_uc001koz.4_Non-coding_Transcript	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	693							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AAGATTCGTCCCTTGTCACAG	0.443000														26			8		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:93615439G>A	uc003drb.4	-	8	1287	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_uc010hoo.3_Missense_Mutation_p.R185C|PROS1_uc003dqz.4_Missense_Mutation_p.R185C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000														29			14		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976663	16976663	+	RNA	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:16976663G>A	uc010och.2	+	13		c.2384G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGGTCGCGCTGGCCAGCCGTC	0.572000														53			3		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531468	97531468	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:97531468G>A	uc002sxg.4	-	2	745	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.P119S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	119	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.L171F(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCATTGTAGGGCTGCAGGAAG	0.622000														15			6		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536165	152536165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:152536165G>A	uc021zhb.1	-	119	22445	c.22222C>T	c.(22222-22224)Cca>Tca	p.P7408S	SYNE1_uc003qos.4_Missense_Mutation_p.P1932S|SYNE1_uc003qot.4_Missense_Mutation_p.P7337S|SYNE1_uc003qou.4_Missense_Mutation_p.P7408S|SYNE1_uc003qor.4_Missense_Mutation_p.P308S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7408					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A7407S(1)|p.M7406_A7407>IS(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAAATCTGGAGCCATGCTG	0.393000										HNSCC(10;0.0054)				34			21		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493841	38493841	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:38493841G>A	uc010ive.1	-	13	2264	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	LIFR_uc003jli.2_Silent_p.L644L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	644	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCCAGGTGAGGAGAATCCCCT	0.418000			T	PLAG1	salivary adenoma									27			27		0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136328179	136328179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:136328179G>A	uc003lbo.3	-	5	891	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q234*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	234					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTACTGCCTTGGGCTGTGTTG	0.453000														31			23		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976345	131976345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:131976345G>A	uc002tsn.2	+	0	422	c.370G>A	c.(370-372)Gat>Aat	p.D124N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	124							ATP binding										GGGAGACTACGATGACAGCGC	0.587000														62			26		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101061633	101061633	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:101061633C>T	uc004ays.3	-	16	2875	c.2415G>A	c.(2413-2415)ctG>ctA	p.L805L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	805					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGTCTTTATCCAGCTACAAGA	0.527000														61			45		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83332700	83332700	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:83332700C>T	uc010uoi.2	-	19	2466	c.2289G>A	c.(2287-2289)agG>agA	p.R763R	AP3B2_uc010uoh.2_Silent_p.R744R|AP3B2_uc010uoj.2_Silent_p.R712R|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Silent_p.R380R|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	744	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity	p.G762G(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTTGTCTTCCTCTTACCAT	0.527000														15			7		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525110	9525110	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:9525110T>G	uc002wnl.2	-	8	2320	c.1775A>C	c.(1774-1776)cAa>cCa	p.Q592P	PAK7_uc002wnk.2_Missense_Mutation_p.Q592P|PAK7_uc002wnj.2_Missense_Mutation_p.Q592P|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	592	Protein kinase.						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)			TTTGGAAACTTGAGCACAGAA	0.423000														60			24		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508081	26508081	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:26508081G>A	uc001isp.2	+	3	899	c.396G>A	c.(394-396)gtG>gtA	p.V132V	GAD2_uc009xkr.3_Silent_p.V132V|GAD2_uc001isq.2_Silent_p.V132V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	132					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CAACCAAAGTGATTGATTTCC	0.388000														48			9		0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140136473	140136473	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:140136473G>A	uc004cmh.1	+	3	379	c.277_splice	c.e3+1	p.G93_splice	TUBB4B_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	93					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										CTTCGTTTTCGGTGAGCCGTG	0.716000														14			6		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753659	207753659	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:207753659G>A	uc001hfy.3	+	21	3801	c.3661G>A	c.(3661-3663)Gaa>Aaa	p.E1221K	CR1_uc009xcl.1_Missense_Mutation_p.E771K|CR1_uc001hfx.3_Missense_Mutation_p.E1671K|CR1_uc021pij.1_Missense_Mutation_p.E1221K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1221	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTGGGCAGGAAGTGTTCTA	0.577000														116			38		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90695113	90695113	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:90695113G>A	uc001kfp.3	-	8	1117	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.P289L|ACTA2_uc001kfq.3_Missense_Mutation_p.P334L|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	334					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCGCTCCGGAGGGGCAATGAT	0.498000											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			14		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745577	37745577	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:37745577G>A	uc004aag.1	+	15	3592	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E	FRMPD1_uc004aah.1_Missense_Mutation_p.G1183E	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1183						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GACCCTCAAGGACAGAGCAGA	0.493000														22			10		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308943	248308943	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:248308943C>T	uc010pze.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165F(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCGACATTTTCCTTCTCCTAC	0.443000														178			57		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61308142	61308142	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:61308142C>T	uc002ljf.3	-	4	521	c.435G>A	c.(433-435)aaG>aaA	p.K145K	SERPINB3_uc002lje.3_Silent_p.K145K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	145					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.R144R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGTTAATCTTCTTTCGACTTT	0.408000														18			6		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206328781	206328781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:206328781G>A	uc001hdu.3	+	6	966	c.848G>A	c.(847-849)gGg>gAg	p.G283E	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	288					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	p.T282T(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTGGACACAGGGACTTCCCTC	0.612000														51			14		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070254	35070254	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:35070254A>T	uc003jjm.3	-	6	1216	c.657T>A	c.(655-657)agT>agA	p.S219R	PRLR_uc003jjk.1_Missense_Mutation_p.S148R|PRLR_uc003jjg.2_Missense_Mutation_p.S219R|PRLR_uc003jjh.2_Missense_Mutation_p.S219R|PRLR_uc003jji.2_Missense_Mutation_p.S148R|PRLR_uc003jjj.2_Missense_Mutation_p.S219R|PRLR_uc003jjl.4_Missense_Mutation_p.S118R|PRLR_uc021xxl.1_Missense_Mutation_p.S219R|PRLR_uc010iuw.1_Missense_Mutation_p.S148R	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	219	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTCGCTGGACTCCATGCAC	0.423000														18			15		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117723046	117723046	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:117723046C>T	uc001twn.2	-	7	2093	c.1382_splice	c.e7+1	p.R461_splice	NOS1_uc021ren.1_Splice_Site_p.R125_splice|NOS1_uc021reo.1_Splice_Site_p.R125_splice|NOS1_uc001twm.2_Splice_Site_p.R461_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	461					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCAGCTCACCTGAGGTTCCC	0.547000														13			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														75			3		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63047810	63047810	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:63047810C>T	uc002alb.4	+	33	4556	c.4556C>T	c.(4555-4557)gCc>gTc	p.A1519V	TLN2_uc002alc.4_5'UTR|TLN2_uc002ald.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1519					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCCAAGACGGCCAACCCAGTA	0.572000														26			8		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745299	84745299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:84745299G>A	uc021pvc.1	+	9	2128	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	NRG3_uc010qlz.1_Missense_Mutation_p.E676K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E677K|NRG3_uc001kcp.2_Missense_Mutation_p.E480K|NRG3_uc001kcq.2_Missense_Mutation_p.E327K|NRG3_uc021pvd.1_Missense_Mutation_p.E456K|NRG3_uc021pve.1_Missense_Mutation_p.E481K|NRG3_uc021pvf.1_Missense_Mutation_p.E327K|NRG3_uc021pvg.1_Missense_Mutation_p.E505K|NRG3_uc021pvh.1_Missense_Mutation_p.E289K|NRG3_uc021pvi.1_Missense_Mutation_p.E507K|NRG3_uc021pvk.1_Missense_Mutation_p.E217K|NRG3_uc001kcr.2_Missense_Mutation_p.E351K|NRG3_uc021pvl.1_Missense_Mutation_p.E327K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	701					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCCAAATCAGAACGAGAGGC	0.478000														32			7		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261599	24261599	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:24261599C>T	uc003xdz.2	+	12	1624	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	ADAMDEC1_uc010lub.2_Silent_p.T389T|ADAMDEC1_uc011lab.1_Silent_p.T389T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	468	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAACCATACCACGTAAGACC	0.413000														3			8		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135615	55135615	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55135615C>T	uc010rif.2	+	0	256	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P86S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGGGTTCCCCCATGTACTT	0.408000														38			26		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442559	52442559	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:52442559G>A	uc003ddx.3	-	3	301	c.186C>T	c.(184-186)gtC>gtT	p.V62V	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	62					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCAAGGTAGAGACCTTTCGCC	0.502000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								9			5		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307300	162307300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:162307300G>A	uc003iqh.3	-	15	2579	c.2143C>T	c.(2143-2145)Ctt>Ttt	p.L715F	FSTL5_uc003iqi.3_Missense_Mutation_p.L714F|FSTL5_uc010iqv.3_Missense_Mutation_p.L705F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	715						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCTTACAAGACCTTTCACA	0.418000														22			14		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22653927	22653927	+	Silent	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:22653927T>A	uc001iri.3	+	2	434	c.267T>A	c.(265-267)gtT>gtA	p.V89V	SPAG6_uc010qct.2_Silent_p.V64V|SPAG6_uc009xkh.3_Silent_p.V67V|SPAG6_uc001irj.3_Silent_p.V89V	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	89					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CACAGCTTGTTTATTCATTGG	0.353000														22			9		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739688	71739688	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:71739688C>T	uc003kce.1	-	4	2316	c.2130G>A	c.(2128-2130)cgG>cgA	p.R710R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AAGAGGGGCCCCGCCGGGTAC	0.502000														58			25		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62455863	62455863	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:62455863G>A	uc001dab.3	+	27	3808	c.3694G>A	c.(3694-3696)Gat>Aat	p.D1232N	INADL_uc009waf.1_Missense_Mutation_p.D1232N|INADL_uc001daa.2_Missense_Mutation_p.D1232N|INADL_uc001dad.3_Missense_Mutation_p.D929N|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.D16N|INADL_uc009wag.3_Missense_Mutation_p.D16N|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1232					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGATATGCAGATCTGCCTGG	0.343000														17			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326134	57326134	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:57326134G>A	uc002qnu.2	-	6	4027	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.R1197*|PEG3_uc002qnv.2_Nonsense_Mutation_p.R1226*|PEG3_uc002qnw.2_Nonsense_Mutation_p.R1102*|PEG3_uc002qnx.2_Nonsense_Mutation_p.R1100*|PEG3_uc010etr.2_Nonsense_Mutation_p.R1226*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1226					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1226>?(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAAGGCATCGAATGGCCGAC	0.502000														17			19		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623015	48623015	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:48623015C>T	uc003ctz.2	-	30	3870	c.3869G>A	c.(3868-3870)gGa>gAa	p.G1290E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1290	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGGCACTTCCAGGGGGCCC	0.597000														56			39		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957595	121957595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:121957595C>T	uc003idq.1	-	3	2058	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	511	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGGACCTTTTCTGACTTCTTC	0.393000														26			19		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615720	100615720	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:100615720C>T	uc001ygx.2	-	1	498	c.410G>A	c.(409-411)gGc>gAc	p.G137D		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	137					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CAGCCCGTCGCCGCCCAGGTA	0.677000														8			8		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749885	24749885	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:24749885C>T	uc010kus.1	-	5	908	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	DFNA5_uc003sxa.1_Missense_Mutation_p.G274R|DFNA5_uc010kut.1_Missense_Mutation_p.G110R	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	274					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAAGATATCCCATGCGCAGCA	0.512000														33			25		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101837	46101837	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:46101837G>A	uc002zfv.3	-	0	242	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	68	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						TGGCAGGAGGGAGCCGCATAC	0.647000														44			29		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														37			22		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439623	150439623	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150439623G>A	uc022apw.1	+	5	1148	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	GIMAP1-GIMAP5_uc003whr.2_Silent_p.R132R	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGGCCATCAGGAAGGTGAAAG	0.592000														47			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056625	9056625	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9056625G>A	uc002mkp.3	-	2	31025	c.30821C>T	c.(30820-30822)tCc>tTc	p.S10274F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10276	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						TGTGCCAGTGGAAATAGTCTC	0.473000														20			16		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909184	65909184	+	Silent	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:65909184A>G	uc002jgf.3	+	10	5245	c.5184A>G	c.(5182-5184)ttA>ttG	p.L1728L	BPTF_uc002jge.3_Silent_p.L1854L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1854	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGATGACTTAAAAAAGTTGG	0.408000														132			25		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911927	23911927	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:23911927G>A	uc001uon.2	-	9	6677	c.6088C>T	c.(6088-6090)Cct>Tct	p.P2030S	SACS_uc001uoo.2_Missense_Mutation_p.P1883S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2030					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACCGAAGAAGGAAGTTCAACA	0.358000														14			22		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380982	147380982	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:147380982C>T	uc021ovm.1	+	0	900	c.900C>T	c.(898-900)ttC>ttT	p.F300F	GJA8_uc001epu.2_Silent_p.F300F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	300					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCAATCAGTTCGAGGAGAAGA	0.572000														11			26		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879568	73879568	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:73879568G>A	uc011dyh.2	+	11	1972	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	KCNQ5_uc011dyi.2_Missense_Mutation_p.R533Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R514Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R523Q|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R273Q	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	523					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACTGTCATTCGAGCTATCAGG	0.393000														15			12		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524382	9524382	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9524382G>A	uc010dwq.3	-	8	2427	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	ZNF266_uc002mll.3_Missense_Mutation_p.P407S|ZNF266_uc002mlm.3_Missense_Mutation_p.P407S|ZNF266_uc002mln.3_Missense_Mutation_p.P407S|ZNF266_uc002mlo.3_Missense_Mutation_p.P407S	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CATTCAAAAGGCTTCTCTCCA	0.448000														23			13		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859892	6859892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:6859892C>T	uc002knc.3	+	4	3777	c.566C>T	c.(565-567)tCt>tTt	p.S189F	ARHGAP28_uc002kne.3_Missense_Mutation_p.S82F|ARHGAP28_uc010wzi.2_Missense_Mutation_p.S64F|ARHGAP28_uc002knf.3_Missense_Mutation_p.S73F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	64					signal transduction	intracellular		p.S188F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGGAGTGACTCTGTGGTAAGT	0.428000														36			22		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44145024	44145024	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:44145024G>A	uc003owt.1	+	11	1321	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	CAPN11_uc011dvn.2_Missense_Mutation_p.G82E	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	428	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCCTGAGGGGGATGACCCA	0.612000														14			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920625	13920625	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:13920625C>T	uc003jfd.2	-	5	804	c.762G>A	c.(760-762)gaG>gaA	p.E254E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	254	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGCAATCCTCTATTTTTC	0.398000									Kartagener syndrome					35			28		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39776358	39776358	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:39776358C>T	uc003xnm.3	+	3	442	c.328C>T	c.(328-330)Cct>Tct	p.P110S		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	110					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.V109F(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TATTGCTGTTCCTTACTGCCA	0.338000														6			14		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709905	128709905	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:128709905G>A	uc001qeo.1	-	1	342	c.291C>T	c.(289-291)ctC>ctT	p.L97L	KCNJ1_uc001qep.1_Silent_p.L78L|KCNJ1_uc001qeq.1_Silent_p.L78L|KCNJ1_uc001qer.1_Silent_p.L78L|KCNJ1_uc001qes.1_Silent_p.L78L|KCNJ1_uc021qsb.1_Silent_p.L78L	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	97					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CATACCACAGGAGACCAAAGA	0.458000														9			15		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799438	9799438	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:9799438C>T	uc003bst.3	-	10	1190	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.G109G|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	335					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCAGCAGCTCCCCATGGCTCG	0.672000														40			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585753	82585753	+	Silent	SNP	T	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:82585753T>G	uc003uhx.2	-	4	4805	c.4516A>C	c.(4516-4518)Aga>Cga	p.R1506R	PCLO_uc003uhv.2_Silent_p.R1506R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1437					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						GGCTCTCTTCTAGTAGTTATG	0.378000														16			7		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447882	96447882	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:96447882G>A	uc001kjv.4	+	3	658	c.332_splice	c.e3-1	p.G111_splice	CYP2C19_uc001kjw.4_Splice_Site_p.G111_splice|CYP2C19_uc009xus.1_Splice_Site|CYP2C19_uc010qny.2_Splice_Site	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	111					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTCTGCTAGGAATCCTTTTC	0.517000														33			7		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759103	55759103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:55759103C>T	uc010spk.2	+	0	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTGGAAATTTCATTCACGTCT	0.438000														55			40		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201420	132201420	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:132201420G>A	uc002tst.2	-	0	1048	c.582C>T	c.(580-582)ttC>ttT	p.F194F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CAGGCGAGGTGAACTTGCAGT	0.582000														13			10		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689773	49689773	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:49689773C>T	uc003cxe.4	+	4	2898	c.2784C>T	c.(2782-2784)ctC>ctT	p.L928L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	928					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGGTGGGCTCCGTCGCTTCA	0.642000														36			18		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42166927	42166927	+	Silent	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:42166927T>C	uc003baz.1	+	19	2531	c.2506T>C	c.(2506-2508)Ttg>Ctg	p.L836L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.L222L|MEI1_uc003bbc.1_Silent_p.L204L|MEI1_uc010gym.1_Silent_p.L204L|MEI1_uc003bbd.1_Silent_p.L79L	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	836							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGTTCCAGTTGCTCAGAAG	0.527000														91			46		0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868050	31868050	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:31868050C>T	uc003nyd.1	-	1	1209	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.V345M|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGCTTCTCCACGCCCTGGAAC	0.617000														44			16		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449856	158449856	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158449856C>T	uc010pik.2	+	0	189	c.189C>T	c.(187-189)gtC>gtT	p.V63V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTGGCAATGTCACCATTATCA	0.433000														58			62		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200486	52200486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:52200486C>T	uc001ryw.3	+	26	5394	c.5216C>T	c.(5215-5217)cCc>cTc	p.P1739L	SCN8A_uc010snl.2_Missense_Mutation_p.P1698L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1739					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.P1739T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTGGGAACCCCTCAGTGGGC	0.512000														33			24		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671175	112671175	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:112671175G>A	uc003pvx.1	+	2	577	c.265G>A	c.(265-267)Gag>Aag	p.E89K	RFPL4B_uc021zdy.1_Missense_Mutation_p.E89K	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	89	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CGTGAGGGAGGAGCTCCGGCA	0.522000														12			11		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185463	56185463	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:56185463C>T	uc010rji.2	-	0	246	c.246G>A	c.(244-246)atG>atA	p.M82I	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAAAATTCACCATCATCTTCG	0.443000														28			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113694808	113694808	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:113694808C>T	uc003ynu.3	-	15	2699	c.2540G>A	c.(2539-2541)gGg>gAg	p.G847E	CSMD3_uc003yns.3_Missense_Mutation_p.G119E|CSMD3_uc003ynt.3_Missense_Mutation_p.G807E|CSMD3_uc011lhx.2_Missense_Mutation_p.G743E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	847	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAGTTGTCCCCAAACCGCCG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				106			14		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520746	131520746	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:131520746C>T	uc021voy.1	+	0	1101	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	FAM123C_uc002trw.2_Silent_p.I367I|FAM123C_uc010fmv.2_Silent_p.I367I|FAM123C_uc010fms.1_Silent_p.I367I|FAM123C_uc010fmt.1_Silent_p.I367I|FAM123C_uc010fmu.1_Silent_p.I367I	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	367										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGCTCCATCGACACAGGCA	0.632000														18			14		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234127	84234127	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:84234127C>T	uc003pjz.3	+	1	1207	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	PRSS35_uc010kbm.3_Missense_Mutation_p.R323W|PRSS35_uc021zce.1_Missense_Mutation_p.R323W	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	323	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTTGGTCTATCGGTTTTGCAG	0.483000														30			15		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671190	151671190	+	Missense_Mutation	SNP	C	T	T	rs145059917		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:151671190C>T	uc011eep.2	+	3	1904	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	AKAP12_uc003qoe.3_Missense_Mutation_p.P555L|AKAP12_uc003qof.3_Missense_Mutation_p.P457L|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P450L	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	555	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCGATTCTCCGGACAGCCAG	0.557000														20			14		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167780011	167780011	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167780011G>A	uc001ger.3	-	31	4920	c.4622C>T	c.(4621-4623)tCt>tTt	p.S1541F	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.S1388F|ADCY10_uc009wvk.3_Missense_Mutation_p.S1449F	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1541					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTGTTTCAGAGAGCCGCAA	0.483000														19			22		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748927	152748927	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152748927C>A	uc010pdv.2	+	0	80	c.80C>A	c.(79-81)cCg>cAg	p.P27Q		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgccccacaccgaagtgcccc	0.657000														40			41		1.96642e-18	2.00745e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179596871	179596871	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:179596871C>T	uc021vsy.1	-	53	13318	c.13093G>A	c.(13093-13095)Gaa>Aaa	p.E4365K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1026K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5292	Ig-like 23.						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)			CCACTGTCTTCGATGCCAACA	0.423000														71			44		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777605	123777605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:123777605C>T	uc010saa.2	+	0	467	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTCACTGATGCTGTGATCCAT	0.468000														20			43		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060785	9060785	+	Silent	SNP	G	A	A	rs76894959		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9060785G>A	uc002mkp.3	-	2	26865	c.26661C>T	c.(26659-26661)ttC>ttT	p.F8887F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8889	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L8886I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACAGGGGTGAAAAGAGAAG	0.493000														38			29		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099914	50099914	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:50099914C>T	uc002poo.4	+	3	2322	c.2322C>T	c.(2320-2322)acC>acT	p.T774T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCAGTCTACCCAGCCCACTC	0.711000														15			9		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848596	42848596	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:42848596C>T	uc002otl.4	+	10	2427	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	MEGF8_uc002otm.4_Missense_Mutation_p.P139S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	598	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCGCAGTGTCCAGCCGCCAG	0.667000														22			17		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138763091	138763091	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:138763091C>T	uc011bmt.1	-	0	644	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	124								p.E123K(1)		breast(2)|lung(7)|skin(2)	11						GGAAAACGTCCACTTCCAGGC	0.637000														3			3		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689509	109689509	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:109689509C>T	uc004bcz.3	+	2	3605	c.3316C>T	c.(3316-3318)Cca>Tca	p.P1106S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P954S|ZNF462_uc004bda.3_Missense_Mutation_p.P954S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1106					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACAACCCCCGCCACCAGACCT	0.532000														26			39		0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435787	48435788	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:48435787_48435788CC>TT	uc002iqo.3	+	9	2270_2271	c.2161_2162CC>TT	c.(2161-2163)ccc>TTc	p.P721F	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	721					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACTGAGCCGGCCCCTGCGGCCA	0.579000														38			14		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850524	40850524	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:40850524A>G	uc002law.3	-	3	1429	c.1060T>C	c.(1060-1062)Ttc>Ctc	p.F354L	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.F336L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	354	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGCTCATTGAACACTGCATTG	0.423000														30			22		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712753	129712753	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:129712753G>A	uc021zfb.1	+	35	5294	c.5189G>A	c.(5188-5190)aGg>aAg	p.R1730K	LAMA2_uc003qbn.3_Missense_Mutation_p.R1730K|LAMA2_uc003qbo.3_Missense_Mutation_p.R1730K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1730	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAACTGAGGAGGAAAAATCTA	0.353000														18			13		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926743	43926743	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:43926743G>A	uc003bdy.2	-	30	4649	c.4335C>T	c.(4333-4335)agC>agT	p.S1445S	EFCAB6_uc003bdz.2_Silent_p.S1293S|EFCAB6_uc010gzi.2_Silent_p.S1293S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1445	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCATCATAGCTTTTGAACG	0.577000														51			37		0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75607804	75607804	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75607804G>A	uc001jvv.2	-	8	744	c.614C>T	c.(613-615)cCc>cTc	p.P205L	CAMK2G_uc001jvs.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvm.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvo.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvp.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvq.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvr.2_Missense_Mutation_p.P213L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	213	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.L204L(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATCCCAGAAGGGAGGATAGCC	0.552000														52			35		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330304	128330304	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:128330304G>A	uc003qbk.3	-	13	2668	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L	PTPRK_uc010kfc.3_Silent_p.L768L|PTPRK_uc003qbj.3_Silent_p.L768L|PTPRK_uc011ebu.2_Silent_p.L768L|PTPRK_uc003qbl.1_Silent_p.L638L|PTPRK_uc011ebv.1_Silent_p.L768L	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	767					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGACAACTAGGAGAAGGAGGA	0.408000														33			28		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327573	16327573	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:16327573G>A	uc003nbt.3	-	7	1940	c.969C>T	c.(967-969)gtC>gtT	p.V323V	ATXN1_uc010jpi.3_Silent_p.V323V|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	323					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCGTTCAGGACCTCCTTGG	0.662000														71			29		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043566	56043566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:56043566G>A	uc001nio.1	+	0	452	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATGTCACCCAGAGTCTATGTG	0.443000														74			106		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835102	24835102	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:24835102C>T	uc001iru.4	+	20	6084	c.5681C>T	c.(5680-5682)tCc>tTc	p.S1894F	KIAA1217_uc001irs.3_Missense_Mutation_p.S1215F|KIAA1217_uc001irt.4_Missense_Mutation_p.S1260F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S1325F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S1300F|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1894	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ttgtcattttcctcctcccct	0.532000														33			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069045	9069045	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9069045G>A	uc002mkp.3	-	2	18605	c.18401C>T	c.(18400-18402)tCa>tTa	p.S6134L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6136	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						GGCTTCAGGTGAAATGTCTGG	0.498000														13			8		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402291	26402291	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:26402291G>A	uc001uqk.3	+	27	2857	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	ATP8A2_uc010tdi.2_Intron|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Q455Q	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	865					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGCAGATTTTATTTG	0.373000														71			65		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272256	158272256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:158272256C>T	uc002tzj.1	-	7	1085	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	CYTIP_uc010zcl.1_Missense_Mutation_p.R232Q	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	338					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						GAGTTGCTTTCGGACACTTCC	0.483000														28			16		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948146	62948146	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:62948146G>A	uc001nwr.1	-	5	1056	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.F352F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	352					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAAAGGACAGGAAACAGATTC	0.373000														54			20		0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813576	45813576	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:45813576C>T	uc011aqs.2	+	3	497	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	29										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAATGACTTCCAACAGAGCT	0.448000														22			39		0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74535579	74535579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:74535579C>T	uc001xpo.3	-	6	935	c.836G>A	c.(835-837)aGg>aAg	p.R279K	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.R266K|ALDH6A1_uc010asa.3_Missense_Mutation_p.R124K	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	279						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGCTTGAACCCTCTTGCCATG	0.413000														32			15		0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764519	109764519	+	RNA	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:109764519G>A	uc004eos.1	+	0		c.980G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TTTGGCCCCAGGAGGAGCCTG	0.567000														1			16		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396414	45396414	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:45396414G>A	uc001zun.3	-	18	2687	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	DUOX2_uc010bea.3_Silent_p.F828F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	828	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCAGAGAGAACATGGACT	0.612000														3			7		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681219	169681219	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:169681219G>A	uc002ueg.3	+	2	455	c.189G>A	c.(187-189)acG>acA	p.T63T	NOSTRIN_uc002uef.3_Silent_p.T63T|NOSTRIN_uc002ueh.3_5'UTR|NOSTRIN_uc010fpu.3_Intron	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	63	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TACAGAACACGAGAAAAAGGT	0.373000														11			19		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769763	160769763	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:160769763C>T	uc001fwu.3	+	1	395	c.345C>T	c.(343-345)tcC>tcT	p.S115S	LY9_uc001fwt.3_Silent_p.S115S|LY9_uc010pjs.1_Silent_p.S115S|LY9_uc001fwv.3_Silent_p.S115S|LY9_uc001fww.3_Silent_p.S115S|LY9_uc001fwy.1_Silent_p.S17S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	115	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGAGTTACTCCCTGTGCATCA	0.458000														32			49		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106016	168106016	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168106016C>T	uc002udx.3	+	8	8203	c.8114C>T	c.(8113-8115)tCc>tTc	p.S2705F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2530F|XIRP2_uc010fpq.3_Missense_Mutation_p.S2483F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2530					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						AAACCAATTTCCCCAAATTTC	0.368000														33			20		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643772	186643773	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:186643772_186643773CT>TG	uc001gsb.3	-	9	1664_1665	c.1527_1528AG>CA	c.(1525-1530)gtagaa>gtCAaa	p.E510K	PTGS2_uc009wyo.3_Missense_Mutation_p.E357K	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	510					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GCTCCAACTTCTACCATGGTTT	0.475000														27			27		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698476	40698477	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:40698476_40698477GG>AA	uc002ona.3	+	0	826_827	c.538_539GG>AA	c.(538-540)ggt>AAt	p.G180N		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	180	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCGGGGTGGTGCACTGAGC	0.634000														26			15		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207257	58207257	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:58207257C>T	uc001vhq.1	+	0	1469	c.577C>T	c.(577-579)Cca>Tca	p.P193S	PCDH17_uc010aec.1_Missense_Mutation_p.P193S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACCAAGTTCCCAGAACTGGT	0.642000														20			14		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31349771	31349771	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:31349771G>A	uc001msv.3	-	2	295	c.57C>T	c.(55-57)tcC>tcT	p.S19S	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	19					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTCAAGAGGGATAAGGAAG	0.338000														19			19		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184379	130184379	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:130184379G>A	uc009zyl.1	-	1	1272	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	315						integral to membrane		p.S315C(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTCAGTGGAATTTCTGGA	0.493000														14			14		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	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)				38			34		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083365	35083365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:35083365G>A	uc001ziu.1	-	5	1183	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	314			R -> H (in CMD1R).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTCTGCATACGATCAGCAATA	0.438000														35			69		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55418737C>T	uc001nhs.1	+	0	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGCCTATGATCGTTATGTGGC	0.428000														73			54		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56082633	56082633	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:56082633G>T	uc001shh.3	-	21	3185	c.2965C>A	c.(2965-2967)Ctg>Atg	p.L989M	ITGA7_uc001shg.3_Missense_Mutation_p.L985M|ITGA7_uc010sps.2_Missense_Mutation_p.L892M|ITGA7_uc001shf.3_5'Flank|ITGA7_uc009znw.3_Missense_Mutation_p.L232M|ITGA7_uc009znx.3_Missense_Mutation_p.L866M	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1029					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCACCTCCAGAAAGGTGCTG	0.577000														14			11		3.03607e-14	3.08457e-14	1	1	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118780	118780	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrGL000209.1:118780C>T	uc010yie.2	+	2	268	c.257C>T	c.(256-258)tCc>tTc	p.S86F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.S83F|KIR2DL2_uc002qum.3_Missense_Mutation_p.S86F	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	86	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCCAACTTCTCCATCAGTCGC	0.522000														24			47		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56936328	56936328	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:56936328G>A	uc002ekd.4	+	23	2820	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	SLC12A3_uc010ccm.3_Missense_Mutation_p.D922N|SLC12A3_uc010ccn.3_Missense_Mutation_p.D930N	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	922					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCGTCTGAATGATGGCTTCAA	0.542000														26			18		0	0	1	0	0
C12orf69	440087	broad.mit.edu	37	12	14959305	14959305	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:14959305C>A	uc001rck.1	-	1	383	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	WBP11_uc001rci.3_5'Flank|C12orf60_uc001rcj.4_Intron|C12orf69_uc021qvp.1_Nonsense_Mutation_p.E104*	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	Homo sapiens chromosome 12 open reading frame 69 (C12orf69), mRNA.	104						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						GTTTCCTTTTCCTTAATATCC	0.408000														36			20		3.73194e-20	3.82208e-20	1	1	0
abParts	0	broad.mit.edu	37	14	106494419	106494419	+	RNA	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:106494419C>T	uc021ser.1	-	2337		c.41233G>A								Parts of antibodies, mostly variable regions.																		GGACCAGACTCCTTCAAGGTG	0.532000														17			11		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809369	31809369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:31809369C>T	uc001ivs.4	+	6	1169	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	ZEB1_uc001ivr.4_Missense_Mutation_p.P151L|ZEB1_uc010qef.2_Missense_Mutation_p.P151L|ZEB1_uc009xlj.1_Missense_Mutation_p.P295L|ZEB1_uc010qeg.1_Missense_Mutation_p.P228L|ZEB1_uc009xlk.1_Missense_Mutation_p.P151L|ZEB1_uc001ivu.4_Missense_Mutation_p.P370L|ZEB1_uc010qeh.2_Missense_Mutation_p.P302L|ZEB1_uc001ivv.4_Missense_Mutation_p.P349L|ZEB1_uc001ivt.4_Missense_Mutation_p.P151L|ZEB1_uc009xlo.2_Missense_Mutation_p.P352L|ZEB1_uc009xlp.3_Missense_Mutation_p.P353L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	369					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTTCAACCCCTTTACAAAAT	0.448000														32			4		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271863	137271863	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:137271863G>A	uc003vtt.3	-	12	1406	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R169*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	469	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTGAGAGTTCGAGCCAGGTCA	0.552000														30			22		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805092	54805093	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:54805092_54805093CC>TT	uc003pck.3	+	4	1439_1440	c.1323_1324CC>TT	c.(1321-1326)gcccag>gcTTag	p.Q442*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	442										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACACACCTGCCCAGAGTTTTGC	0.460000														20			8		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920058	51920058	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:51920058T>C	uc002pwo.3	-	2	790	c.568A>G	c.(568-570)Acc>Gcc	p.T190A	SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T142A|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T190A|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T190A|SIGLEC10_uc010eow.3_5'UTR|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	190	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTTGGTTTGGTTCCTTGGGAG	0.597000														23			7		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418959	31418959	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:31418959G>A	uc010cap.1	+	7	877	c.828G>A	c.(826-828)gaG>gaA	p.E276E	ITGAD_uc010vfl.1_Silent_p.E276E|ITGAD_uc002ebv.1_Silent_p.E276E|ITGAD_uc002ebw.1_Silent_p.E87E	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	276	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGGCAGAGAAGGCTGGCA	0.572000														28			10		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024887	197024887	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:197024887G>A	uc001gtt.1	-	7	1356	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	438	Sushi 7.				blood coagulation	extracellular region		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGTTCGCAACGAGATATTTTT	0.413000														56			17		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724851	158724851	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158724851C>T	uc001fsw.1	+	0	246	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGGCATGGCCCTGCACACCC	0.463000														108			37		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780110	37780110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:37780110C>T	uc003tfm.1	+	0	115	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTCCATTCTTTTCCTCCT	0.498000														41			26		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318511	30318511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:30318511C>T	uc009xle.2	-	2	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*	KIAA1462_uc001iux.3_Nonsense_Mutation_p.W189*|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Nonsense_Mutation_p.W51*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	189										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGCTGGTTCCAGCTTTCCAG	0.488000														98			53		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371808	240371808	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:240371808C>T	uc010pye.2	+	5	3933	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I	FMN2_uc010pyd.2_Silent_p.I1232I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1232	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGACAGGAATCCCACCGCCCC	0.612000														9			13		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525445	85525445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:85525445C>T	uc011ccv.2	+	1	665	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	56					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGAACAGATTCTGATATTCCG	0.343000														17			17		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335674	83335674	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:83335674C>T	uc010uoi.2	-	14	1854	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	AP3B2_uc010uoh.2_Silent_p.L559L|AP3B2_uc010uoj.2_Silent_p.L527L|AP3B2_uc010uog.2_Silent_p.L195L	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	559					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CATACTGGGTCAGCAGCTTGG	0.572000														64			10		0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457401	15457401	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:15457401G>A	uc003bzs.1	-	3	667	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	METTL6_uc011avp.1_Silent_p.L92L|METTL6_uc003bzt.1_Silent_p.L137L	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	137							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCTTTAGTCAGATCACACTGG	0.393000														18			18		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832286	35832286	+	Silent	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:35832286T>A	uc010edt.3	+	7	1632	c.1548T>A	c.(1546-1548)ctT>ctA	p.L516L	CD22_uc010edu.3_Silent_p.L428L|CD22_uc010edv.3_Silent_p.L516L|CD22_uc002nzb.4_Silent_p.L339L|CD22_uc010xst.2_Silent_p.L344L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	516	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCAAGCCCCTTTCCGAGATTC	0.572000														27			20		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145843328	145843328	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:145843328C>T	uc003lob.3	+	4	1147	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	TCERG1_uc003loc.3_Silent_p.P369P|TCERG1_uc011dbt.2_Silent_p.P369P	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTGTTCCCCTTCCTGGCA	0.448000														53			38		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698751	21698751	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21698751C>T	uc002djh.3	+	6	418	c.417C>T	c.(415-417)atC>atT	p.I139I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.I60I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	139					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGACATCATCATCGACTTAG	0.517000														66			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788276	140788276	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140788276T>A	uc003lkj.2	+	0	507	c.507T>A	c.(505-507)gaT>gaA	p.D169E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.D169E	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTAAAGATTATAAGATAA	0.378000														9			10		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180292	34180292	+	Silent	SNP	A	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:34180292A>G	uc001bxm.1	-	20	3478	c.3301T>C	c.(3301-3303)Ttg>Ctg	p.L1101L	CSMD2_uc001bxn.1_Silent_p.L1061L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1061	CUB 7.					integral to membrane|plasma membrane	protein binding			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)				GAGAAGGTCAAGGTGTCGCCC	0.657000														69			45		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327383	52327383	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:52327383C>T	uc002pxt.1	+	1	566	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FPR3_uc021uyq.1_Silent_p.L128L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	128					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TATTTGTGTCCTGCATCCAGC	0.468000														30			9		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148475	34148475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:34148475C>T	uc004ddg.3	-	0	1973	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	641										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AACTTTTGGTCCTCATGGGTT	0.438000														3			22		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81929430	81929430	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:81929430C>A	uc002fgt.3	+	12	1269	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	PLCG2_uc010chg.1_Missense_Mutation_p.P364H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	364	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGACGGGCCCGATGGGAAG	0.602000														28			29		1.80694e-10	1.83288e-10	1	1	0
SLC9A1	6548	broad.mit.edu	37	1	27480565	27480565	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:27480565C>A	uc001bnm.3	-	0	887	c.261G>T	c.(259-261)aaG>aaT	p.K87N	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.K87N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	87					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.R86H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTGGAAAGGCCTTGCGCGGCT	0.587000														61			34		2.08457e-15	2.12126e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179642031	179642031	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:179642031C>T	uc021vsy.1	-	26	4884	c.4659G>A	c.(4657-4659)caG>caA	p.Q1553Q	TTN_uc021vsz.1_Silent_p.Q1507Q|TTN_uc021vta.1_Silent_p.Q1507Q|TTN_uc021vtb.1_Silent_p.Q1507Q|TTN_uc002unb.2_Silent_p.Q1553Q|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1553							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)			TCGGTTTTACCTGATGTTCCA	0.368000														12			8		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121893	12121893	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:12121893C>T	uc003nac.3	+	3	2044	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	622					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AATGAGAATTCCCACCAGAAA	0.517000														37			15		0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	666175	666175	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:666175C>T	uc003jbg.4	-	1	1093	c.375G>A	c.(373-375)aaG>aaA	p.K125K	TPPP_uc003jbh.4_Silent_p.K125K	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	125					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGAATCGCTTCTTGGCGAGCT	0.637000														50			23		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465388	77465388	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:77465388C>T	uc002ffc.4	-	2	718	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	100					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTGAAAATCGGTAGTGCAG	0.473000														113			67		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31589778	31589778	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:31589778C>T	uc002rnv.1	-	20	2359	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	760					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)	AGAGCTCCATCTCCCCTGCCT	0.552000														64			37		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17255700	17255700	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:17255700G>A	uc010hev.3	-	20	2082	c.1818_splice	c.e20+1	p.S606_splice	TBC1D5_uc010heu.3_Splice_Site_p.S171_splice|TBC1D5_uc003cbf.3_Splice_Site_p.S584_splice|TBC1D5_uc003cbe.3_Splice_Site_p.S584_splice|TBC1D5_uc010hew.1_Splice_Site_p.S558_splice	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	584						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATACTTACAGATTCTTTTCT	0.383000														10			13		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43128564	43128564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:43128564C>T	uc011dve.1	+	19	3224	c.3182C>T	c.(3181-3183)tCc>tTc	p.S1061F	PTK7_uc003oub.1_Missense_Mutation_p.S1053F|PTK7_uc003ouc.1_Missense_Mutation_p.S997F|PTK7_uc003oud.1_Missense_Mutation_p.S1013F|PTK7_uc003oue.1_Missense_Mutation_p.S923F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.S379F|PTK7_uc003ouh.1_3'UTR	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	1053	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCGGCCCTCCTTCAGTGAG	0.657000														50			22		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114500710	114500710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:114500710C>T	uc004bfr.3	-	9	1210	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E423K|C9orf84_uc004bfq.3_Missense_Mutation_p.E320K|C9orf84_uc010mug.3_Missense_Mutation_p.E305K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	359										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGCCTTTTCCAGATTAATC	0.333000														33			16		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68642965	68642965	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:68642965G>A	uc010bib.3	-	8	1137	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ITGA11_uc002ari.3_Silent_p.F350F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	350					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTTCCAGGCTGAAGATTCTGT	0.498000														42			10		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46797828	46797828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:46797828C>T	uc001ndi.2	-	23	3094	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	CKAP5_uc009ylg.1_Missense_Mutation_p.E876K|CKAP5_uc001ndj.2_Missense_Mutation_p.E990K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	990					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AAAGGATTTTCCTTTTTGAGC	0.438000														21			21		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499713	8499713	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:8499713C>T	uc003zkk.3	-	24	2999	c.2256G>A	c.(2254-2256)gtG>gtA	p.V752V	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	752	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTCCATCCTCACATAATGCA	0.473000										TSP Lung(15;0.13)				42			14		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122270	42122270	+	Silent	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:42122270C>T	uc003gwn.3	-	4	1768	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	BEND4_uc003gwm.3_Silent_p.T396T|BEND4_uc011byy.1_Silent_p.T396T	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	396	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACTGTTTGCTCGTTATGTAGA	0.453000														40			18		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122720899	122720899	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:122720899C>T	uc001pyj.3	+	1	170	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	57	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.T57A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCAGGGTTCACCATTTTTTTA	0.488000														4			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187999	140187999	+	Silent	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140187999G>A	uc003lhi.2	+	0	1328	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.L409L|PCDHAC2_uc011daa.2_Silent_p.L409L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	423	Cadherin 4.				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)			CGTTGGTGCTGGACAGTGCCC	0.607000														119			72		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10086141	10086141	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:10086141G>A	uc021xlv.1	-	8	1248	c.965C>T	c.(964-966)tCg>tTg	p.S322L	WDR1_uc021xlw.1_Missense_Mutation_p.S182L|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Missense_Mutation_p.S157L|WDR1_uc010idm.3_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	322					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACACTGGATCGATTTACTGTG	0.532000														9			5		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872839	51872839	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:51872839C>T	uc002xwo.3	+	1	3729	c.2842C>T	c.(2842-2844)Cac>Tac	p.H948Y	TSHZ2_uc021wex.1_Missense_Mutation_p.H945Y	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	948					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGAATCTCACCTGGGTTT	0.502000														10			53		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818330	7818330	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:7818330G>A	uc001mfp.1	-	0	160	c.160C>T	c.(160-162)Cct>Tct	p.P54S		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATACATAGGATGATGGAGC	0.403000														30			20		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553077	52553077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:52553077C>T	uc010bff.3	-	9	1457	c.1295G>A	c.(1294-1296)gGt>gAt	p.G432D	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	432	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTCCAAAACACCAATAAAAGT	0.418000														26			16		0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	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													---	7	---	---	6	---					
NOVA1	4857	broad.mit.edu	37	14	26917534	26917535	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:26917534_26917535insA	uc001wqa.3	-	5	1574_1575	c.788_789insT	c.(787-789)ttafs	p.L263fs	NOVA1_uc001wpy.3_Frame_Shift_Ins_p.L385fs|NOVA1_uc001wpz.3_Frame_Shift_Ins_p.L361fs	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	388					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCTACCTAATGCAAATGT	0.550													---	8	---	---	10	---					
FZR1	51343	broad.mit.edu	37	19	3532524	3532525	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:3532524_3532525insG	uc010dtk.2	+	9	1152_1153	c.1118_1119insG	c.(1117-1119)tcgfs	p.S373fs	FZR1_uc002lxt.2_Frame_Shift_Ins_p.S373fs|FZR1_uc002lxv.2_Frame_Shift_Ins_p.S284fs	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	373					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGCCTCGGGGGGCGGCA	0.644													---	22	---	---	13	---