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
PLEKHG2	64857	broad.mit.edu	37	19	39911444	39911444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39911444C>T	uc010xuz.2	+	12	1676	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P392S|PLEKHG2_uc002olj.3_Missense_Mutation_p.P451S|PLEKHG2_uc010xva.2_Missense_Mutation_p.P258S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTTGGGTCTCCTCGACCTCG	0.562000														56			32		0	0	0.004289	0	0
GPR45	11250	broad.mit.edu	37	2	105858970	105858970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:105858970C>T	uc002tco.1	+	0	771	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	219						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CATGTGCATCCTCAACACGGT	0.677000														33			34		0	0	0.002096	0	0
CSMD1	64478	broad.mit.edu	37	8	3046465	3046465	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:3046465C>A	uc022aqr.1	-	34	5857	c.5467G>T	c.(5467-5469)Gga>Tga	p.G1823*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.G1216*|CSMD1_uc003wqe.3_Nonsense_Mutation_p.G980*|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1824	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTTGTTTCCGTATGGCTCA	0.478000														8			13		4.3838e-07	5.59679e-07	0.001855	1	0
PDE1C	5137	broad.mit.edu	37	7	31890332	31890332	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:31890332G>A	uc003tcm.2	-	7	1235	c.774C>T	c.(772-774)atC>atT	p.I258I	PDE1C_uc003tcn.1_Silent_p.I258I|PDE1C_uc003tco.2_Silent_p.I318I|PDE1C_uc003tcr.3_Silent_p.I258I|PDE1C_uc003tcs.3_Silent_p.I258I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	258	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATAGCAAAGATCTCCAGCT	0.448000														104			17		0	0	0.006122	0	0
TLR2	7097	broad.mit.edu	37	4	154625968	154625968	+	Silent	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:154625968A>C	uc003inq.3	+	2	2128	c.1909A>C	c.(1909-1911)Agg>Cgg	p.R637R	TLR2_uc003inr.3_Silent_p.R637R|TLR2_uc003ins.3_Silent_p.R637R|TLR2_uc021xtl.1_Silent_p.R637R	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	637					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AGCTCCCAGCAGGAACATCTG	0.542000														15			14		0	0	0.002450	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439891	75439891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:75439891C>T	uc010rru.2	+	4	707	c.707C>T	c.(706-708)cCc>cTc	p.P236L	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.P154L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	236					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GACCAGATTCCCAACTCTTCT	0.537000														52			64		0	0	0.003610	0	0
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:72211931C>T	uc003xyu.3	-	7	1221	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_uc003xyt.4_Missense_Mutation_p.G161E|EYA1_uc003xyr.4_Missense_Mutation_p.G189E|EYA1_uc010lzf.3_Missense_Mutation_p.G121E|EYA1_uc003xys.4_Missense_Mutation_p.G194E|EYA1_uc011lfe.2_Missense_Mutation_p.G188E|EYA1_uc003xyv.3_Missense_Mutation_p.G72E	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G194R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303000														74			34		0	0	0.004878	0	0
TRA@	6955	broad.mit.edu	37	14	22111200	22111200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:22111200G>A	uc001wbk.3	+	0	92	c.59G>A	c.(58-60)gGa>gAa	p.G20E						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		CAGATGTGGGGAGTTTTCCTT	0.463000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									29			19		0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168102065	168102065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:168102065G>A	uc002udx.3	+	8	4252	c.4163G>A	c.(4162-4164)aGa>aAa	p.R1388K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1213K|XIRP2_uc010fpq.3_Missense_Mutation_p.R1166K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1213					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						AGTTCTGTCAGATACAGATTT	0.348000														35			33		0	0	0.005524	0	0
SETD1A	9739	broad.mit.edu	37	16	30975992	30975992	+	Missense_Mutation	SNP	C	T	T	rs146035438		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30975992C>T	uc002ead.1	+	6	1615	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	310	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.S310F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGCCTTTTCCCGCCGCCAC	0.602000														68			68		0	0	0.003610	0	0
OR2L13	284521	broad.mit.edu	37	1	248263604	248263604	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:248263604C>T	uc001ids.3	+	2	1264	c.927C>T	c.(925-927)ttC>ttT	p.F309F	OR2L13_uc021pmc.1_Silent_p.F309F	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TATTCTCTTTCCTGAAAGAAT	0.448000														3			26		0	0	0.004656	0	0
BCAN	63827	broad.mit.edu	37	1	156628431	156628431	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:156628431G>C	uc001fpp.3	+	12	2870	c.2534G>C	c.(2533-2535)cGg>cCg	p.R845P		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	845	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACCGGTGCCGGGAAGGACTG	0.657000														9			139		0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	107007010	107007010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:107007010C>T	uc001kyi.1	+	21	3253	c.3026C>T	c.(3025-3027)cCt>cTt	p.P1009L	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1009						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCATTCTCTCCTAATCTGGAT	0.438000														3			25		0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9046044	9046044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9046044G>A	uc002mkp.3	-	4	35791	c.35587C>T	c.(35587-35589)Cca>Tca	p.P11863S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11865	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						GTTGAAGTTGGAATCATTGTG	0.483000														51			81		0	0	0.003610	0	0
C15orf55	256646	broad.mit.edu	37	15	34647840	34647840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:34647840G>A	uc010ucc.2	+	7	2013	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	C15orf55_uc010ucd.2_Missense_Mutation_p.G534E|C15orf55_uc001zif.3_Missense_Mutation_p.G516E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	516						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGGCTTCAGGGGGCTGGGGGC	0.592000			T	"""BRD3, BRD4"""	lethal midline carcinoma									93			59		0	0	0.003610	0	0
GDAP2	54834	broad.mit.edu	37	1	118426147	118426147	+	Missense_Mutation	SNP	C	T	T	rs148217136	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:118426147C>T	uc001ehf.3	-	10	1509	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	GDAP2_uc001ehg.3_Missense_Mutation_p.D404N	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	404	CRAL-TRIO.							p.S403P(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTCAGGAAGTCGGAGTCCAGG	0.353000														2			19		0	0	0.003954	0	0
CDH5	1003	broad.mit.edu	37	16	66434765	66434765	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:66434765G>A	uc002eom.4	+	10	1839	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.G561W(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGACAATGGGATGCCAAGTC	0.582000														61			68		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41525791	41525791	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:41525791C>T	uc003xok.3	-	38	5472	c.5388G>A	c.(5386-5388)gtG>gtA	p.V1796V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.V950V|ANK1_uc003xoi.3_Silent_p.V1796V|ANK1_uc003xoj.3_Silent_p.V1796V|ANK1_uc003xol.3_Silent_p.V1634V|ANK1_uc003xom.3_Silent_p.V1837V|ANK1_uc003xof.3_5'Flank|ANK1_uc011lcl.2_5'Flank|ANK1_uc003xod.3_5'Flank|ANK1_uc003xoc.3_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1796	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACCTGCACCACTTGGGTGA	0.652000														59			19		0	0	0.002299	0	0
USP22	23326	broad.mit.edu	37	17	20921418	20921418	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:20921418C>A	uc002gym.4	-	4	731	c.527G>T	c.(526-528)cGt>cTt	p.R176L	USP22_uc002gyn.4_Missense_Mutation_p.R164L|USP22_uc002gyl.4_Missense_Mutation_p.R71L	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	176					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GATCAGCCCACGCAGACCTGG	0.557000														37			41		1.04594e-18	1.35508e-18	0.006230	1	0
TRMT5	57570	broad.mit.edu	37	14	61442787	61442787	+	Missense_Mutation	SNP	G	A	A	rs143033104		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:61442787G>A	uc001xff.4	-	3	941	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	284						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GTAGACAGACGAGGATTCCAA	0.413000														53			48		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720391	140720391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140720391C>T	uc003ljk.2	+	0	2038	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S618L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	620	Cadherin 6.				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)			GGACTCTTCTCGGTGGGTCTG	0.677000														3			53		0	0	0.003610	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:92364064C>T	uc003yez.3	+	9	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_uc003yex.3_Silent_p.F389F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F389F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	389						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGCATTTTCGTCCTTATAG	0.353000														86			35		0	0	0.003755	0	0
OSBP2	23762	broad.mit.edu	37	22	31266542	31266542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:31266542G>A	uc003aiy.1	+	2	1084	c.980G>A	c.(979-981)gGc>gAc	p.G327D	OSBP2_uc011ala.1_Missense_Mutation_p.G162D|OSBP2_uc010gwc.1_Missense_Mutation_p.G154D|OSBP2_uc003aix.1_Missense_Mutation_p.G327D|OSBP2_uc011alb.1_Missense_Mutation_p.G327D|OSBP2_uc003aiz.1_Missense_Mutation_p.G327D|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Missense_Mutation_p.G69D	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	327					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCAAGCACGGCGCTGCACTC	0.592000														32			25		0	0	0.007291	0	0
SYT9	143425	broad.mit.edu	37	11	7324437	7324437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:7324437G>A	uc001mfe.3	+	1	550	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	105						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATGGACACAGAGACCAATGA	0.557000														27			47		0	0	0.003214	0	0
NFIL3	4783	broad.mit.edu	37	9	94172146	94172146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:94172146C>T	uc022bjt.1	-	0	871	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NFIL3_uc004arh.3_Missense_Mutation_p.E291K	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	291					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ACCTGTTGCTCGTCTTCTCCA	0.522000														11			111		0	0	0.003610	0	0
PDIA4	9601	broad.mit.edu	37	7	148703064	148703064	+	Missense_Mutation	SNP	C	T	T	rs150817731		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148703064C>T	uc003wff.2	-	7	1495	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	405					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGCTTAGCATCGTTTGACACC	0.592000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			37		0	0	0.007835	0	0
CYYR1	116159	broad.mit.edu	37	21	27852695	27852695	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:27852695A>G	uc002yme.3	-	2	552	c.230T>C	c.(229-231)aTt>aCt	p.I77T	CYYR1_uc002ymd.3_Missense_Mutation_p.I77T|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	77						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AATCCCAGCAATGACCCCCAT	0.468000														63			54		0	0	0.003610	0	0
OR2A14	135941	broad.mit.edu	37	7	143826896	143826896	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:143826896G>T	uc011kua.2	+	0	691	c.691G>T	c.(691-693)Gag>Tag	p.E231*		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCAGTCTGGGGAGGGCCGCAG	0.617000														175			72		5.98616e-33	7.78423e-33	0.003610	1	0
TEAD4	7004	broad.mit.edu	37	12	3129827	3129827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:3129827C>T	uc010sej.2	+	8	903	c.611C>T	c.(610-612)cCa>cTa	p.P204L	TEAD4_uc010sek.2_Missense_Mutation_p.P161L|TEAD4_uc001qln.3_Missense_Mutation_p.P75L	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	204					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A203T(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GGGCCCGCCCCATCGCCCTCT	0.667000														54			41		0	0	0.002222	0	0
ZNF793	390927	broad.mit.edu	37	19	38023299	38023299	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:38023299A>C	uc010efm.3	+	5	499	c.57A>C	c.(55-57)caA>caC	p.Q19H	ZNF793_uc010xts.2_Missense_Mutation_p.Q19H	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTCACCCAAGAGGAGTGGC	0.493000														19			9		0	0	0.004482	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115143	17115143	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17115143A>G	uc002nfb.3	-	7	786	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	205						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						ACAAAAATGAACCATTCTCCC	0.478000														65			20		0	0	0.002780	0	0
APOB	338	broad.mit.edu	37	2	21251370	21251370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:21251370G>A	uc002red.3	-	12	1786	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	553	Vitellogenin.				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)	ATCTCCCGGAGAAGCATCATC	0.453000														255			209		0	0	0.003610	0	0
GCLC	2729	broad.mit.edu	37	6	53387244	53387244	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:53387244G>A	uc003pbw.2	-	1	716	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	GCLC_uc021zau.1_Silent_p.L78L|GCLC_uc003pbx.3_Silent_p.L78L	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	78					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTCTCTTGCAGAGTTTCAAGA	0.373000														95			42		0	0	0.003610	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536749	5536749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5536749G>A	uc001maz.4	-	0	1208	c.923C>T	c.(922-924)tCt>tTt	p.S308F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	308										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGGGGGTGAAGACTGGACTTG	0.488000														52			27		0	0	0.006320	0	0
SEPP1	6414	broad.mit.edu	37	5	42808288	42808288	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42808288T>C	uc011cps.2	-	2	356	c.258A>G	c.(256-258)caA>caG	p.Q86Q	SEPP1_uc011cpt.2_Silent_p.Q56Q|SEPP1_uc011cpu.2_Silent_p.Q56Q|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	56					response to oxidative stress	extracellular region	selenium binding	p.S85Y(1)		kidney(10)|large_intestine(1)|lung(4)	15						ATCAGCTGGCTTGAAGAAGAG	0.443000														70			40		0	0	0.003214	0	0
SLC4A10	57282	broad.mit.edu	37	2	162730517	162730517	+	Splice_Site	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:162730517T>C	uc002ubx.4	+	8	1132	c.948_splice	c.e8+2	p.E316_splice	SLC4A10_uc010fpa.1_Splice_Site_p.E328_splice|SLC4A10_uc010zcr.1_Splice_Site|SLC4A10_uc010zcs.2_Intron|SLC4A10_uc002uby.4_Intron	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	316					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						GAGAGAGAGGTGAGGGCATAC	0.473000														6			10		0	0	0.008291	0	0
MYH7	4625	broad.mit.edu	37	14	23891496	23891496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:23891496C>T	uc001wjx.3	-	24	3244	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1046					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCAGGTCCATGCGCACCT	0.577000														51			46		0	0	0.003610	0	0
PTPN23	25930	broad.mit.edu	37	3	47454654	47454654	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47454654C>T	uc003crf.1	+	24	4986	c.4890C>T	c.(4888-4890)ctC>ctT	p.L1630L	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.L1500L|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1630					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGATCCACTCTGGACACTCA	0.567000														7			58		0	0	0.003610	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627172	108627172	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:108627172A>T	uc002tdv.3	+	8	1874	c.1598A>T	c.(1597-1599)aAa>aTa	p.K533I	SLC5A7_uc010ywm.2_Missense_Mutation_p.K286I|SLC5A7_uc010fjj.3_Missense_Mutation_p.K533I|SLC5A7_uc010ywn.2_Missense_Mutation_p.K420I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	533					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATTCTTGTCAAAAATGAAAAT	0.368000														26			15		0	0	0.004007	0	0
PDE1A	5136	broad.mit.edu	37	2	183066463	183066463	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:183066463T>G	uc002uos.3	-	9	1088	c.1004A>C	c.(1003-1005)cAc>cCc	p.H335P	PDE1A_uc010zfp.1_Missense_Mutation_p.H231P|PDE1A_uc002uoq.1_Missense_Mutation_p.H335P|PDE1A_uc010zfq.1_Missense_Mutation_p.H335P|PDE1A_uc002uor.3_Missense_Mutation_p.H319P|PDE1A_uc002uou.3_Missense_Mutation_p.H301P	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	335	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ttgctggaAGTGACCTGACAT	0.353000														18			16		0	0	0.003163	0	0
DDN	23109	broad.mit.edu	37	12	49392428	49392428	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49392428G>A	uc001rsv.1	-	1	249	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	77						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCGGCTGTGGGGATCCCGGGC	0.736000														7			9		0	0	0.004482	0	0
HMP19	51617	broad.mit.edu	37	5	173531309	173531309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:173531309G>A	uc003mcx.3	+	3	437	c.292G>A	c.(292-294)Gat>Aat	p.D98N	HMP19_uc011dfh.2_Missense_Mutation_p.M1I	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	98					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTCACCTATGATCACAGCTG	0.468000														48			35		0	0	0.004878	0	0
PEAK1	79834	broad.mit.edu	37	15	77450944	77450944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:77450944T>C	uc021sqy.1	-	5	3808	c.3232A>G	c.(3232-3234)Aca>Gca	p.T1078A	PEAK1_uc002bcn.2_Missense_Mutation_p.T1078A	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1078					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GACAATGCTGTTGTGACTGAA	0.468000														52			37		0	0	0.004878	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:44670039G>A	uc010zxl.1	+	7	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000														54			38		0	0	0.005524	0	0
KYNU	8942	broad.mit.edu	37	2	143676226	143676226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:143676226G>A	uc010fnm.3	+	3	434	c.218G>A	c.(217-219)gGa>gAa	p.G73E	KYNU_uc002tvk.3_Missense_Mutation_p.G73E|KYNU_uc002tvl.3_Missense_Mutation_p.G73E	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	73					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TATTTCTTGGGAAATTCTCTT	0.279000														34			18		0	0	0.007413	0	0
FOXG1	2290	broad.mit.edu	37	14	29237835	29237835	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:29237835C>T	uc001wqe.3	+	0	1549	c.1350C>T	c.(1348-1350)acC>acT	p.T450T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	450				QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCCCTCGACCCTGCCCTGTG	0.582000														46			26		0	0	0.003330	0	0
ABCA13	154664	broad.mit.edu	37	7	48522729	48522729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:48522729G>A	uc003toq.2	+	46	13175	c.13151G>A	c.(13150-13152)gGa>gAa	p.G4384E	ABCA13_uc010kys.1_Missense_Mutation_p.G1459E|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.G114E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4384					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTGCAAATGGAAACATATCA	0.353000														22			15		0	0	0.003163	0	0
FAM127C	441518	broad.mit.edu	37	X	134156473	134156473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:134156473T>C	uc004eyc.1	-	0	94	c.17A>G	c.(16-18)cAg>cGg	p.Q6R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.	6										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					CTTCATCAGCTGCACTCGACC	0.687000														46			29		0	0	0.001786	0	0
SSTR4	6754	broad.mit.edu	37	20	23016462	23016462	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:23016462C>T	uc002wsr.2	+	0	406	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	114					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACTGGCCCTTCGGCTCCGTGC	0.662000														65			75		0	0	0.003610	0	0
XPO6	23214	broad.mit.edu	37	16	28128740	28128740	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:28128740A>G	uc002dpa.1	-	14	2404	c.1903T>C	c.(1903-1905)Tta>Cta	p.L635L	XPO6_uc002dpb.1_Silent_p.L621L|XPO6_uc010vcp.1_Silent_p.L635L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	635					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TACTGTGCTAACCAGTGAGAG	0.458000														72			42		0	0	0.002522	0	0
SVEP1	79987	broad.mit.edu	37	9	113228145	113228145	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113228145C>T	uc010mtz.3	-	18	3659	c.3322_splice	c.e18+1	p.V1108_splice	SVEP1_uc010mua.1_Splice_Site_p.V1108_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1108					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTTGATAACCTCCACATGCA	0.423000														0			5		0	0	0.000602	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290158	95290158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:95290158C>T	uc001dqv.4	+	2	352	c.245C>T	c.(244-246)gCc>gTc	p.A82V	SLC44A3_uc001dqx.4_Missense_Mutation_p.A82V|SLC44A3_uc010otq.2_Missense_Mutation_p.A46V|SLC44A3_uc010otr.2_Missense_Mutation_p.A46V|SLC44A3_uc001dqw.4_Missense_Mutation_p.A34V|SLC44A3_uc010ots.2_Missense_Mutation_p.A34V|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Missense_Mutation_p.A34V|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	82						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GTGGAAGGGGCCCCTCTTTCA	0.488000														5			60		0	0	0.003610	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507419	74507419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:74507419C>T	uc001dfy.4	-	6	1388	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	399								p.R399R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCGCTCCAATCGTATGTCTTT	0.343000														3			43		0	0	0.007835	0	0
OR10G7	390265	broad.mit.edu	37	11	123908973	123908973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:123908973C>T	uc001pzq.1	-	0	736	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAAAGGACCACGATACAGTGG	0.567000														4			12		0	0	0.000978	0	0
TRPC3	7222	broad.mit.edu	37	4	122820791	122820791	+	Silent	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:122820791A>T	uc003ieg.2	-	9	2597	c.2523T>A	c.(2521-2523)atT>atA	p.I841I	TRPC3_uc010inr.2_Silent_p.I713I|TRPC3_uc003ief.2_Silent_p.I768I|TRPC3_uc011cgl.1_Silent_p.I505I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	756					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGATTGAGAATGCTGTTAA	0.348000														35			31		0	0	0.007835	0	0
OR8K5	219453	broad.mit.edu	37	11	55926983	55926983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55926983C>T	uc010rja.2	-	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T270N(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398000														17			32		0	0	0.001786	0	0
SMC1B	27127	broad.mit.edu	37	22	45804690	45804690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:45804690C>T	uc003bgc.3	-	1	251	c.199G>A	c.(199-201)Gga>Aga	p.G67R	SMC1B_uc003bgd.3_Missense_Mutation_p.G67R|SMC1B_uc003bge.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	67					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATATGTGCTCCATGAATGAGT	0.343000														72			40		0	0	0.006999	0	0
CUTC	51076	broad.mit.edu	37	10	101496042	101496042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:101496042C>T	uc001kqd.4	+	1	249	c.101C>T	c.(100-102)tCa>tTa	p.S34L	CUTC_uc010qpk.2_Missense_Mutation_p.S34L|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	34					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TGTGTTGATTCAGTGGAATCA	0.393000														5			37		0	0	0.008740	0	0
RASA3	22821	broad.mit.edu	37	13	114758001	114758001	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:114758001G>A	uc001vui.3	-	21	2336	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	RASA3_uc010tkk.2_Silent_p.S703S|RASA3_uc001vuj.3_Silent_p.S352S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	735					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGTTGAAGAGGGAGTAGATAC	0.572000														21			32		0	0	0.005524	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647624	117647624	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:117647624C>T	uc001prh.1	-	2	575	c.573G>A	c.(571-573)gtG>gtA	p.V191V	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	131	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R190R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTGATCCTCCACCCGGACGG	0.527000														3			21		0	0	0.003330	0	0
STAT2	6773	broad.mit.edu	37	12	56743038	56743038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:56743038G>A	uc001slc.3	-	15	1552	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	STAT2_uc001slb.3_5'UTR|STAT2_uc001sld.3_Missense_Mutation_p.T446I|STAT2_uc010sqn.2_Intron	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	450					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACAGGGAGGGTGTCCGTCTG	0.512000														48			25		0	0	0.003954	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688735	26688735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:26688735G>A	uc003acb.3	+	1	654	c.458G>A	c.(457-459)gGc>gAc	p.G153D	SEZ6L_uc003acd.3_Missense_Mutation_p.G153D|SEZ6L_uc011akd.2_Missense_Mutation_p.G153D|SEZ6L_uc003ace.3_Missense_Mutation_p.G153D|SEZ6L_uc011akc.2_Missense_Mutation_p.G153D|SEZ6L_uc003acc.3_Missense_Mutation_p.G153D|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	153						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCGTCCCAGGGCCTAGATCTC	0.667000														30			25		0	0	0.005443	0	0
MYH15	22989	broad.mit.edu	37	3	108107893	108107893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:108107893C>T	uc003dxa.1	-	38	5576	c.5519G>A	c.(5518-5520)gGt>gAt	p.G1840D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1840						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACGGATTTCACCCTCCAGTTC	0.537000														86			36		0	0	0.006230	0	0
DOHH	83475	broad.mit.edu	37	19	3496633	3496633	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3496633G>C	uc002lxs.3	-	1	343	c.180C>G	c.(178-180)taC>taG	p.Y60*	DOHH_uc010xhl.2_Nonsense_Mutation_p.Y60*	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	60					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCAGGCAGTAGGCCAGCT	0.667000														31			20		0	0	0.001523	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663597	169663597	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:169663597G>A	uc011bpp.2	-	1		c.4206C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TTTAAAGAGGGGAAAGACCAC	0.428000														6			13		0	0	0.001368	0	0
PSG4	5672	broad.mit.edu	37	19	43708384	43708384	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43708384C>T	uc002ovy.3	-	1	186	c.84G>A	c.(82-84)tgG>tgA	p.W28*	PSG4_uc002ovz.3_Nonsense_Mutation_p.W28*|PSG4_uc002owb.3_Nonsense_Mutation_p.W28*	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	28					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGCGGATTCCAGAAGTTTA	0.463000														44			79		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3229252	3229252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:3229252C>T	uc004crg.4	-	6	7149	c.6992G>A	c.(6991-6993)gGg>gAg	p.G2331E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2331	Ig-like C2-type 7.					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)				CTCGTCCTTCCCGACCTGATT	0.537000														8			84		0	0	0.003610	0	0
REG1P	5969	broad.mit.edu	37	2	79363190	79363190	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:79363190G>A	uc002soa.1	-	3		c.1124C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		CTACTCCACTGATAATGGCAG	0.522000														20			7		0	0	0.004482	0	0
CNGB3	54714	broad.mit.edu	37	8	87616331	87616331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:87616331C>T	uc003ydx.3	-	14	1819	c.1771G>A	c.(1771-1773)Gga>Aga	p.G591R	CNGB3_uc010maj.3_Intron	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	591					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGATTTCTCCAAACACCGAC	0.383000														19			11		0	0	0.001855	0	0
TPCN1	53373	broad.mit.edu	37	12	113716033	113716033	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:113716033G>A	uc001tux.3	+	13	1614	c.1440G>A	c.(1438-1440)ttG>ttA	p.L480L	TPCN1_uc001tuw.3_Silent_p.L408L|TPCN1_uc010syt.1_Silent_p.L340L	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	408						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTGCTGCTTTGAAGTGGAAGG	0.473000														72			16		0	0	0.008871	0	0
RSPH1	89765	broad.mit.edu	37	21	43897453	43897453	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:43897453G>A	uc002zbg.3	-	6	780	c.675C>T	c.(673-675)ccC>ccT	p.P225P		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	225					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCGGCTTTTTGGGGAGAGTTG	0.562000														55			38		0	0	0.006230	0	0
CDH18	1016	broad.mit.edu	37	5	19503104	19503104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:19503104C>T	uc003jgd.3	-	10	2161	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CDH18_uc011cnm.2_Missense_Mutation_p.E543K|CDH18_uc003jgc.3_Missense_Mutation_p.E543K|CDH18_uc021xwu.1_Missense_Mutation_p.E543K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	543	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTTCACCTTCATTGTCCTTC	0.353000														44			23		0	0	0.003330	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														48			4		0	0	0.000248	0	0
FAT4	79633	broad.mit.edu	37	4	126372388	126372388	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126372388T>C	uc003ifj.4	+	8	10217	c.10217T>C	c.(10216-10218)cTa>cCa	p.L3406P	FAT4_uc011cgp.2_Missense_Mutation_p.L1704P|FAT4_uc003ifi.1_Missense_Mutation_p.L884P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3406	Cadherin 33.				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						ATTTTTACTCTAAACATCTAC	0.473000														49			27		0	0	0.005443	0	0
ZNF768	79724	broad.mit.edu	37	16	30536353	30536353	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30536353C>A	uc002dyk.4	-	1	1284	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*	ZNF768_uc010vex.2_Nonsense_Mutation_p.E339*|ZNF768_uc010vew.2_Nonsense_Mutation_p.E339*	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	370					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGGGCCGCTCGTGGCTGTGG	0.642000														37			20		1.10923e-09	1.42133e-09	0.002780	1	0
ATP10D	57205	broad.mit.edu	37	4	47538884	47538884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:47538884C>T	uc003gxk.1	+	8	1489	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.T427I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	442					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGACAGGAACCCTCACTGAG	0.428000														28			9		0	0	0.004482	0	0
ZFP2	80108	broad.mit.edu	37	5	178359231	178359231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:178359231C>T	uc003mjn.1	+	4	1426	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZFP2_uc010jky.2_Missense_Mutation_p.S306F|ZFP2_uc010jkx.1_Missense_Mutation_p.S306F|ZFP2_uc021yjb.1_Missense_Mutation_p.S306F	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGCGGGAAATCCTTTAGCCAA	0.368000														39			33		0	0	0.004289	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216262	77216262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:77216262C>T	uc001syk.1	+	7	1011	c.848C>T	c.(847-849)gCa>gTa	p.A283V	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	283					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GCAAGGCAAGCAAAAGGATAT	0.353000														9			26		0	0	0.006320	0	0
SORL1	6653	broad.mit.edu	37	11	121478879	121478880	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:121478879_121478880GG>AT	uc001pxx.3	+	37	5362_5363	c.5233_5234GG>AT	c.(5233-5235)gga>ATa	p.G1745I	SORL1_uc010rzp.1_Missense_Mutation_p.G591I|SORL1_uc010rzq.1_Missense_Mutation_p.G360I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1745					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACCATAAAAGGAAAAGGTAAA	0.366000														1			11		0	0	0.004672	0	0
CFH	3075	broad.mit.edu	37	1	196874340	196874340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:196874340G>A	uc001gtp.3	+	2	496	c.359G>A	c.(358-360)gGa>gAa	p.G120E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G119E|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	480	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTAAACCAGGATATGCAACA	0.303000														55			33		0	0	0.003271	0	0
SVEP1	79987	broad.mit.edu	37	9	113198727	113198727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113198727G>A	uc010mtz.3	-	27	5034	c.4697C>T	c.(4696-4698)cCa>cTa	p.P1566L		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1566	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACTCAGCTGGGCTGAATCC	0.483000														4			37		0	0	0.004878	0	0
CA2	760	broad.mit.edu	37	8	86386594	86386594	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:86386594G>A	uc003ydk.2	+	3	573	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	131					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GGGATTTTGGGAAAGCTGTGC	0.393000														141			45		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10296153	10296153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10296153C>T	uc002gmm.2	-	36	5553	c.5458G>A	c.(5458-5460)Gcc>Acc	p.A1820T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1820					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						CCCACCCTGGCCTCCAGTTTC	0.557000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					64			79		0	0	0.003610	0	0
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:11422583C>T	uc001qzs.3	-	0	59	c.21G>A	c.(19-21)tcG>tcA	p.S7S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	7						extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532000														32			32		0	0	0.005524	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911637	39911637	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39911637G>A	uc010xuz.2	+	14	1772	c.1447_splice	c.e14+1	p.E483_splice	PLEKHG2_uc010xuy.2_Splice_Site_p.E424_splice|PLEKHG2_uc002olj.3_Splice_Site_p.E483_splice|PLEKHG2_uc010xva.2_Intron	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	483					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCAGTCTGGTGAGCACTCA	0.657000														18			22		0	0	0.003330	0	0
ITGAD	3681	broad.mit.edu	37	16	31429405	31429405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:31429405C>T	uc010cap.1	+	20	2561	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	ITGAD_uc002ebv.1_Missense_Mutation_p.H837Y	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	837					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						GAAGCAGCCCCATCAGAGTGC	0.557000														61			45		0	0	0.003610	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55890126C>T	uc001nii.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000														227			102		0	0	0.003610	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401213	17401213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:17401213C>T	uc011kye.2	+	1	533	c.485C>T	c.(484-486)tCg>tTg	p.S162L	SLC7A2_uc011kyc.2_Missense_Mutation_p.S122L|SLC7A2_uc011kyd.2_Missense_Mutation_p.S162L	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	122					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCATTTTATCGTATGTGATA	0.478000														32			19		0	0	0.008871	0	0
DUSP27	92235	broad.mit.edu	37	1	167097616	167097616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:167097616G>A	uc001geb.1	+	4	3264	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1083					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGAATTTGGAGCCAAGAGG	0.512000														4			36		0	0	0.004289	0	0
CAD	790	broad.mit.edu	37	2	27447254	27447254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:27447254C>T	uc002rji.3	+	8	1312	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CAD_uc010eyw.3_Missense_Mutation_p.P384S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	384	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.P384P(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGGGATTCCCACTCCCGG	0.572000														70			58		0	0	0.003610	0	0
TMEM30A	55754	broad.mit.edu	37	6	75965893	75965893	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:75965893G>A	uc003phw.2	-	6	1289	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	TMEM30A_uc003phx.2_Silent_p.F301F	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	337						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCAGAAGGAAGGAGATGG	0.353000														2			27		0	0	0.003954	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038894	17038894	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17038894A>G	uc002nfb.3	-	24	3468	c.3436T>C	c.(3436-3438)Tac>Cac	p.Y1146H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1099						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						GCCTCGCTGTAGCTCTCGTCC	0.637000														70			19		0	0	0.006122	0	0
MYLIP	29116	broad.mit.edu	37	6	16145501	16145501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:16145501C>T	uc003nbq.3	+	5	1438	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	MYLIP_uc003nbr.3_Missense_Mutation_p.P220S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	401					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CACCTTCTGTCCCTGTGGCCA	0.607000														134			41		0	0	0.008740	0	0
ZNF607	84775	broad.mit.edu	37	19	38200705	38200705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:38200705C>T	uc002ohc.2	-	2	624	c.28G>A	c.(28-30)Gat>Aat	p.D10N	ZNF607_uc002ohb.2_Missense_Mutation_p.D10N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATGGCCACATCCCCGAATGTT	0.488000														28			20		0	0	0.002299	0	0
GPR158	57512	broad.mit.edu	37	10	25887673	25887673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:25887673C>T	uc001isj.3	+	10	3178	c.3118C>T	c.(3118-3120)Ccc>Tcc	p.P1040S	GPR158_uc001isk.3_Missense_Mutation_p.P415S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1040						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1040T(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAAAAACCCCACTTTTTC	0.453000														10			30		0	0	0.001786	0	0
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56538862C>T	uc002qmj.3	+	6	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	NLRP5_uc002qmi.3_Silent_p.V402V	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	421	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTCAGAGGTCGTGTCTCCCC	0.547000														17			5		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9056224	9056224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9056224C>T	uc002mkp.3	-	2	31426	c.31222G>A	c.(31222-31224)Gga>Aga	p.G10408R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10410	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						GTCACTGTTCCCAGCTCAACG	0.478000														160			62		0	0	0.003610	0	0
QSOX1	5768	broad.mit.edu	37	1	180165581	180165581	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:180165581C>T	uc001gnz.3	+	11	1728	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	QSOX1_uc001gny.3_Silent_p.A551A|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	551					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTCAGCTGCCCGGAGGGATG	0.617000														6			189		0	0	0.003610	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524177	42524177	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:42524177C>T	uc003gwr.2	-	22	2179	c.1947_splice	c.e22+1	p.K649_splice	ATP8A1_uc003gws.2_Splice_Site_p.K634_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	649					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)	ATCCACGTACCTTTTCAATCA	0.403000														30			7		0	0	0.004482	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215708	20215708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20215708G>A	uc010tkt.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(3)|p.L40V(2)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTCCTGGGAAACCTCTTG	0.398000														206			80		0	0	0.003610	0	0
MAFIP	727764	broad.mit.edu	37	GL000194.1	53784	53784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrGL000194.1:53784G>A	uc021xvt.1	-	2	1977	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	MAFIP_uc003jab.2_Non-coding_Transcript|MAFIP_uc011clu.2_3'UTR	NM_001190825	NP_001177754	Q8WZ33	MAFIP_HUMAN	Homo sapiens MAFF interacting protein (MAFIP), mRNA.	80					microtubule cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule|nucleolus											TTGAGGTTGCGCAGGGACTGC	0.587000														2			3		0	0	0.000602	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735102	56735102	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56735102G>A	uc002qmq.3	-	2	652	c.486C>T	c.(484-486)tcC>tcT	p.S162S	ZSCAN5A_uc010ygi.2_Silent_p.S45S|ZSCAN5A_uc002qmr.3_Silent_p.S162S|ZSCAN5A_uc002qms.1_Silent_p.S162S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCGTTGGCTGGACACGTCTT	0.587000														49			19		0	0	0.007413	0	0
RFXANK	8625	broad.mit.edu	37	19	19304785	19304785	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:19304785C>T	uc002nls.3	+	2	535	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MEF2B_uc002nlp.2_5'Flank|MEF2B_uc010xqp.1_5'Flank|MEF2B_uc002nlo.2_5'Flank|MEF2BNB_uc002nlq.3_5'Flank|MEF2BNB_uc002nlr.4_5'Flank|MEF2B_uc010ecb.2_5'Flank|RFXANK_uc002nlt.3_Silent_p.L10L|RFXANK_uc002nlu.3_Silent_p.L10L|RFXANK_uc002nlv.3_Silent_p.L10L|RFXANK_uc021uqt.1_Silent_p.L10L	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	10						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CAGAAGACCTCATCCAGACCC	0.537000														121			161		0	0	0.003610	0	0
PTPRC	5788	broad.mit.edu	37	1	198701444	198701444	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:198701444T>C	uc001gur.1	+	18	2164	c.1984T>C	c.(1984-1986)Ttc>Ctc	p.F662L	PTPRC_uc001gut.1_Missense_Mutation_p.F501L|PTPRC_uc009wzf.1_Missense_Mutation_p.F550L|PTPRC_uc021pgy.1_Missense_Mutation_p.F616L|PTPRC_uc010ppg.1_Missense_Mutation_p.F598L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	662	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCGCGGGTGTTCAGCAAGTT	0.393000														32			27		0	0	0.002096	0	0
FGFR2	2263	broad.mit.edu	37	10	123256163	123256163	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:123256163G>A	uc021pzz.1	-	12	2393	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	FGFR2_uc021pzv.1_Silent_p.P470P|FGFR2_uc021pzw.1_Silent_p.P467P|FGFR2_uc021pzx.1_Silent_p.P493P|FGFR2_uc021pzy.1_Silent_p.P583P|FGFR2_uc010qtl.2_Silent_p.P466P|FGFR2_uc010qtm.2_Silent_p.P465P|FGFR2_uc021qaa.1_Silent_p.P583P|FGFR2_uc021qab.1_Silent_p.P494P|FGFR2_uc021qac.1_Silent_p.P511P|FGFR2_uc001lfg.4_Silent_p.P190P	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	582	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACTCCATCCCGGGTGGCCTCC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					11			122		0	0	0.003610	0	0
GPX6	257202	broad.mit.edu	37	6	28474159	28474159	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:28474159A>T	uc021yrx.1	-	2	339	c.289T>A	c.(289-291)Ttg>Atg	p.L97M	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	97					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGAAAGGCCAACACAATGACA	0.483000														44			89		0	0	0.003610	0	0
SRL	6345	broad.mit.edu	37	16	4254547	4254547	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:4254547G>A	uc002cvz.4	-	1	163	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	509	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.S50S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGTAGTCATCGGATGGCTTGT	0.602000														69			62		0	0	0.003610	0	0
FZR1	51343	broad.mit.edu	37	19	3523026	3523026	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3523026C>T	uc010dtk.2	+	0	73	c.39C>T	c.(37-39)atC>atT	p.I13I	FZR1_uc002lxt.2_Silent_p.I13I|FZR1_uc002lxv.2_Silent_p.I13I	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	13					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)		TTCGCCAGATCGTCATCCAGA	0.687000														50			65		0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:29038468G>A	uc002kws.3	+	3	386	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	93	Cadherin 1.				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)			AGTGGGAATCGATCAGCCGCC	0.443000														31			48		0	0	0.003610	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083465	6083465	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:6083465C>T	uc010idb.1	-	5	1458	c.972G>A	c.(970-972)gaG>gaA	p.E324E	JAKMIP1_uc010idc.1_Silent_p.E159E|JAKMIP1_uc010idd.1_Silent_p.E324E|JAKMIP1_uc003giu.4_Silent_p.E324E|JAKMIP1_uc011bwc.2_Silent_p.E159E|JAKMIP1_uc003giv.4_Silent_p.E324E|JAKMIP1_uc010ide.3_Silent_p.E324E	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	324	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACCTCGGTCTCTCGTGAGC	0.532000														24			62		0	0	0.003610	0	0
ABP1	26	broad.mit.edu	37	7	150556125	150556125	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:150556125C>T	uc003why.1	+	3	6063	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	ABP1_uc003whz.1_Silent_p.I615I|ABP1_uc003wia.1_Silent_p.I615I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	615					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCAGGCCATCACCTGGGCAA	0.642000														29			25		0	0	0.003954	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627195	108627195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:108627195G>A	uc002tdv.3	+	8	1897	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SLC5A7_uc010ywm.2_Missense_Mutation_p.E294K|SLC5A7_uc010fjj.3_Missense_Mutation_p.E541K|SLC5A7_uc010ywn.2_Missense_Mutation_p.E428K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	541					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TAAATTAGATGAACTTGCACT	0.398000														21			10		0	0	0.008291	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783302	9783302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:9783302C>T	uc001aqe.4	+	18	2826	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V	PIK3CD_uc001aqb.4_Missense_Mutation_p.A849V|PIK3CD_uc010oaf.2_Missense_Mutation_p.A848V|PIK3CD_uc021ogb.1_Missense_Mutation_p.A633V	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	849	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCCACAGCCGCCTTCAACAAG	0.587000														8			74		0	0	0.003610	0	0
OR2L13	284521	broad.mit.edu	37	1	248263527	248263527	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:248263527C>A	uc001ids.3	+	2	1187	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	OR2L13_uc021pmc.1_Missense_Mutation_p.L284I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TACCCCCATGCTCAATCCCAT	0.483000														70			12		5.50884e-06	7.00761e-06	0.001368	1	0
KIAA1328	57536	broad.mit.edu	37	18	34740253	34740253	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:34740253G>A	uc002kzz.3	+	7	1345	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	KIAA1328_uc002lab.3_Silent_p.R193R|KIAA1328_uc002lac.1_Silent_p.R300R	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	441										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GAGAGAATAGGAAGGAGAGGA	0.418000														26			19		0	0	0.007413	0	0
VAT1L	57687	broad.mit.edu	37	16	77850854	77850854	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:77850854G>A	uc002ffg.1	+	1	367	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	90							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGCGACAAGGGAATATTGACA	0.448000														43			34		0	0	0.003271	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42335105G>A	uc002igf.4	-	11	1502	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000														36			20		0	0	0.008871	0	0
BCL9L	283149	broad.mit.edu	37	11	118771389	118771389	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:118771389G>A	uc001pug.3	-	5	4028	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BCL9L_uc009zal.3_Silent_p.S1016S	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1021	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTTGTTCTGGGAGACCCCCG	0.632000														6			33		0	0	0.006999	0	0
MTMR4	9110	broad.mit.edu	37	17	56582272	56582272	+	Silent	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:56582272A>C	uc002iwj.2	-	11	1277	c.1167T>G	c.(1165-1167)gcT>gcG	p.A389A		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	389	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACCAGCACAGCTGCTTTTA	0.557000														39			40		0	0	0.005524	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085042	64085042	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:64085042G>A	uc003dmf.3	-	7	2806	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	740						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTCCCTCCGGGACCCATGCC	0.597000														5			32		0	0	0.003271	0	0
VAT1L	57687	broad.mit.edu	37	16	78011529	78011529	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:78011529G>A	uc002ffg.1	+	8	1294	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	399							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGAAGCAGGGGAAGAGGAGG	0.522000														30			32		0	0	0.004289	0	0
DNMT1	1786	broad.mit.edu	37	19	10250421	10250421	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:10250421G>A	uc002mng.3	-	32	4011	c.3831C>T	c.(3829-3831)tcC>tcT	p.S1277S	DNMT1_uc002mnf.3_Silent_p.S201S|DNMT1_uc010xlc.2_Silent_p.S1293S|DNMT1_uc002mnh.3_Silent_p.S1172S|DNMT1_uc010xld.2_Silent_p.S1277S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1277	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCAGGACCATGGAGCGCTTGA	0.632000														11			23		0	0	0.002780	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158564	26158564	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:26158564C>A	uc003ngr.3	+	0	216	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S56Y	NM_021063	NP_619790	P58876	H2B1D_HUMAN	Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.	56					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCGGCATCTCTTCCAAGGCA	0.567000														121			197		3.44299e-84	4.51061e-84	0.003610	1	0
ANO1	55107	broad.mit.edu	37	11	69933967	69933967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:69933967C>T	uc001opj.3	+	1	523	c.218C>T	c.(217-219)cCc>cTc	p.P73L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.P45L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	73					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CACAAGAGGCCCTCGGGCAAC	0.652000														22			9		0	0	0.006214	0	0
CES1	1066	broad.mit.edu	37	16	55855329	55855329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:55855329G>A	uc002eim.3	-	4	749	c.641C>T	c.(640-642)tCt>tTt	p.S214F	CES1_uc002eil.3_Missense_Mutation_p.S215F|CES1_uc002ein.3_Missense_Mutation_p.S214F	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	214					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GATGGTCACAGAGCCTGGGTT	0.587000														64			31		0	0	0.002836	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:79358832G>A	uc001diq.4	-	12	1948	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R598C(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000														1			30		0	0	0.004878	0	0
SP6	80320	broad.mit.edu	37	17	45924926	45924926	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:45924926G>T	uc002imh.1	-	1	1148	c.870C>A	c.(868-870)ttC>ttA	p.F290L	SP6_uc002img.1_Missense_Mutation_p.F290L|SP6_uc021tzc.1_Missense_Mutation_p.F290L	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GCTTGCCGCAGAAGAGCCAGT	0.662000														42			15		4.7546e-09	6.08497e-09	0.004007	1	0
YTHDF2	51441	broad.mit.edu	37	1	29069282	29069282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:29069282G>A	uc021okf.1	+	4	763	c.500G>A	c.(499-501)gGa>gAa	p.G167E	YTHDF2_uc001brc.3_Missense_Mutation_p.G167E|YTHDF2_uc010ofx.2_Missense_Mutation_p.G117E|YTHDF2_uc001bre.3_Missense_Mutation_p.G117E	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	167					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATTGATGGACAGTCAGCT	0.468000														3			29		0	0	0.001786	0	0
C3orf15	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	T	T	rs139653997		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:119462963C>T	uc003ede.4	+	13	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	C3orf15_uc010hqz.3_Missense_Mutation_p.R546W|C3orf15_uc011bjd.2_Missense_Mutation_p.R482W|C3orf15_uc011bje.2_Missense_Mutation_p.R588W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	444						mitochondrion	protein binding	p.R608W(2)|p.R607G(1)		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)		GCGCCAGCGGCGGGTACGAGA	0.587000														97			26		0	0	0.006320	0	0
SLC17A7	57030	broad.mit.edu	37	19	49937914	49937914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:49937914C>T	uc002pnp.3	-	4	754	c.582G>A	c.(580-582)tgG>tgA	p.W194*	SLC17A7_uc002pnq.1_Nonsense_Mutation_p.W127*|SLC17A7_uc002pno.3_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	194					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCATTTGCTCCAGATCCCAT	0.592000														26			37		0	0	0.006230	0	0
KIF4B	285643	broad.mit.edu	37	5	154397004	154397004	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:154397004G>A	uc010jih.1	+	0	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.S1195L(1)		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)			TCCCAGAGTCGAAACATGGAG	0.507000														1			15		0	0	0.004990	0	0
OAS1	4938	broad.mit.edu	37	12	113346461	113346461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:113346461G>A	uc001tuc.3	+	1	407	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	OAS1_uc010syn.2_Missense_Mutation_p.E100K|OAS1_uc010syo.2_Missense_Mutation_p.E100K|OAS1_uc001tub.3_Missense_Mutation_p.E101K|OAS1_uc001tud.3_Missense_Mutation_p.E101K|OAS1_uc009zwf.3_Missense_Mutation_p.E100K	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	101					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GTTCATCCAGGAAATTAGGAG	0.552000														38			14		0	0	0.004990	0	0
PALMD	54873	broad.mit.edu	37	1	100155290	100155290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:100155290G>A	uc001dsg.3	+	6	1917	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	492					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TAGTCCTCATGAAAACACAAA	0.463000														3			22		0	0	0.002780	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813600	100813600	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:100813600A>C	uc010svi.2	+	11	1746	c.1433A>C	c.(1432-1434)gAa>gCa	p.E478A	SLC17A8_uc009ztx.3_Missense_Mutation_p.E428A	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	478					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TAGACCCGTGAAGAATGGCAG	0.453000														72			26		0	0	0.007291	0	0
RIN2	54453	broad.mit.edu	37	20	19977443	19977443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:19977443G>A	uc002wro.2	+	10	2617	c.2468G>A	c.(2467-2469)cGg>cAg	p.R823Q	RIN2_uc010gcu.2_Missense_Mutation_p.R341Q|RIN2_uc010gcv.2_Missense_Mutation_p.R568Q	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	774	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGGCACAAACGGAGAACCACC	0.557000														7			4		0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179590695	179590695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179590695G>A	uc021vsy.1	-	66	16847	c.16622C>T	c.(16621-16623)tCg>tTg	p.S5541L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2202L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6468	Ig-like 36.						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)			TGGTGTTCCCGAAAGTTCACA	0.413000														35			26		0	0	0.004656	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631396	77631396	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:77631396G>A	uc011cbx.2	+	2	1364	c.411G>A	c.(409-411)agG>agA	p.R137R	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	137					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCAGCACAGGAAAGCAGCGT	0.542000														57			16		0	0	0.004990	0	0
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:76332530T>G	uc003ket.3	+	3	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G	AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	222					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423000														230			7		0	0	0.003080	0	0
FAM155A	728215	broad.mit.edu	37	13	108518107	108518107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:108518107C>T	uc001vql.3	-	0	1354	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCAAACTCTTCGTATTTCTCC	0.527000														78			33		0	0	0.002096	0	0
SSTR2	6752	broad.mit.edu	37	17	71166318	71166318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166318C>T	uc002jje.3	+	1	1220	c.860C>T	c.(859-861)aCc>aTc	p.T287I	SSTR2_uc021ucm.1_Missense_Mutation_p.T287I	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	287					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCAGCCCCACCCCAGCCCTT	0.507000														60			51		0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23523442	23523442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:23523442G>A	uc003jgo.3	+	8	1107	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	309	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGATGGAAAAGATAAATCCTG	0.413000										HNSCC(3;0.000094)				66			39		0	0	0.003610	0	0
CEP170	9859	broad.mit.edu	37	1	243292732	243292732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:243292732C>T	uc021plo.1	-	17	4751	c.4343G>A	c.(4342-4344)cGg>cAg	p.R1448Q	CEP170_uc021plp.1_Missense_Mutation_p.R1324Q|CEP170_uc021plq.1_Missense_Mutation_p.R1350Q|CEP170_uc001hzr.3_Missense_Mutation_p.R37Q|CEP170_uc001hzv.1_Missense_Mutation_p.R800Q	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1448	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCCCAATTCCGATCTTTGTC	0.264000														17			11		0	0	0.008291	0	0
ORC4	5000	broad.mit.edu	37	2	148731066	148731066	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:148731066A>T	uc002twj.3	-	2	255	c.85T>A	c.(85-87)Tgt>Agt	p.C29S	ORC4_uc021vqr.1_Missense_Mutation_p.C29S|ORC4_uc002twi.3_Missense_Mutation_p.C29S|ORC4_uc010zbo.2_5'UTR|ORC4_uc010zbq.2_Intron|ORC4_uc010zbp.2_5'UTR|ORC4_uc002twk.3_Missense_Mutation_p.C29S|ORC4_uc010zbr.2_Missense_Mutation_p.C29S	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	29					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTCTGACGACAAAATCTTTCA	0.308000														40			32		0	0	0.004878	0	0
EVI5L	115704	broad.mit.edu	37	19	7925473	7925473	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7925473C>T	uc010xjz.2	+	12	1448	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	EVI5L_uc002min.3_Silent_p.F456F	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	456						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGAAGACTTCGTGTCCCACC	0.657000														4			10		0	0	0.000978	0	0
LOC727896	727896	broad.mit.edu	37	18	2946308	2946308	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:2946308T>C	uc010wyu.2	-	0	314	c.227A>G	c.(226-228)gAg>gGg	p.E76G	LPIN2_uc002klo.3_Intron					Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 pseudogene (LOC727896), non-coding RNA.																		AGTCTTGACCTCAGGTTTGAC	0.398000														14			21		0	0	0.002299	0	0
OR5M9	390162	broad.mit.edu	37	11	56230234	56230234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:56230234G>A	uc010rjj.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGAGTGTAGGAGATGAGGAC	0.498000														12			4		0	0	0.000248	0	0
COL8A1	1295	broad.mit.edu	37	3	99514879	99514879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:99514879G>A	uc003dti.1	+	2	2265	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.D712N|COL8A1_uc003dth.1_Missense_Mutation_p.D712N	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.R713W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGGCCCGGAGACCGGGTGTT	0.537000														32			20		0	0	0.001523	0	0
OLFML1	283298	broad.mit.edu	37	11	7530873	7530873	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:7530873C>A	uc001mfi.3	+	2	1170	c.663C>A	c.(661-663)taC>taA	p.Y221*	OLFML1_uc010raz.2_Nonsense_Mutation_p.Y85*|OLFML1_uc010rba.2_Nonsense_Mutation_p.Y221*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	221	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGTGATCTACAAAGGTTTTC	0.438000														13			20		1.28384e-07	1.64107e-07	0.001882	1	0
LOC401127	401127	broad.mit.edu	37	4	39483089	39483089	+	RNA	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:39483089C>T	uc011byn.2	+	0		c.1215C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		ACTGTTAAGTCCCTTTGCTCC	0.502000														14			20		0	0	0.001523	0	0
SFSWAP	6433	broad.mit.edu	37	12	132249039	132249039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:132249039G>A	uc001uja.1	+	11	1899	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	SFSWAP_uc010tbn.1_Missense_Mutation_p.E587K|SFSWAP_uc001ujb.1_Missense_Mutation_p.E380K	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	587					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGGCCAAAGAAAATGATCT	0.408000														1			14		0	0	0.003163	0	0
RPGR	6103	broad.mit.edu	37	X	38132689	38132689	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:38132689G>A	uc004deb.3	-	17	2359	c.2191C>T	c.(2191-2193)Cta>Tta	p.L731L	RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA.	737	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTTTTCTAGGATTTCTAAT	0.313000														0			20		0	0	0.003330	0	0
GHR	2690	broad.mit.edu	37	5	42719062	42719062	+	Missense_Mutation	SNP	G	A	A	rs6176	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42719062G>A	uc021xxv.1	+	9	1611	c.1474G>A	c.(1474-1476)Gac>Aac	p.D492N	GHR_uc003jmt.3_Missense_Mutation_p.D485N|GHR_uc003jmu.3_Missense_Mutation_p.D485N|GHR_uc003jmv.2_Missense_Mutation_p.D485N|GHR_uc021xxw.1_Missense_Mutation_p.D485N|GHR_uc021xxx.1_Missense_Mutation_p.D485N|GHR_uc021xxy.1_Missense_Mutation_p.D485N|GHR_uc021xxz.1_Missense_Mutation_p.D485N|GHR_uc021xya.1_Missense_Mutation_p.D485N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D298N|GHR_uc021xyd.1_Missense_Mutation_p.D463N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	485					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCAAACATCGACTTTTATGC	0.488000														38			41		0	0	0.008740	0	0
INTS4	92105	broad.mit.edu	37	11	77667094	77667094	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:77667094G>T	uc001oys.3	-	7	840	c.812C>A	c.(811-813)cCt>cAt	p.P271H	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.P271H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	271					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATTAGAAGAAGGAATTGGGAC	0.413000														17			17		4.63292e-17	5.99488e-17	0.008871	1	0
NPY1R	4886	broad.mit.edu	37	4	164246466	164246466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164246466C>T	uc003iqm.2	-	2	1609	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.E139K	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	382					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATTTTTTCATTATCATCA	0.378000														27			24		0	0	0.003330	0	0
PTCH2	8643	broad.mit.edu	37	1	45293862	45293862	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:45293862G>A	uc010olf.2	-	14	1722	c.1710_splice	c.e14-1	p.S570_splice	PTCH2_uc021omv.1_Splice_Site_p.S570_splice|PTCH2_uc010olg.2_Splice_Site_p.S268_splice	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	570					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGAGCAGGGACTGGAAGAG	0.617000									Basal Cell Nevus syndrome					6			35		0	0	0.003271	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88920115	88920115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:88920115G>A	uc004aou.3	-	22	4016	c.3878C>T	c.(3877-3879)tCa>tTa	p.S1293L	ZCCHC6_uc010mqe.3_Missense_Mutation_p.S193L|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.S1293L|ZCCHC6_uc004aot.3_Missense_Mutation_p.S1057L|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1293					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTTTTCCTTGATAATCCAGC	0.303000														3			29		0	0	0.002836	0	0
LAMA4	3910	broad.mit.edu	37	6	112461972	112461972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:112461972G>A	uc003pvu.2	-	21	3275	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	LAMA4_uc003pvv.2_Missense_Mutation_p.S982F|LAMA4_uc003pvt.2_Missense_Mutation_p.S982F	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	989	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTTGAAGTTGGAAGGCACTCC	0.413000														0			26		0	0	0.007291	0	0
ST14	6768	broad.mit.edu	37	11	130064116	130064116	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:130064116G>A	uc001qfw.3	+	7	1141	c.948G>A	c.(946-948)ctG>ctA	p.L316L	ST14_uc010sca.1_Silent_p.L126L	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	316	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCATCACACTGATAACCAACA	0.612000														37			69		0	0	0.003610	0	0
C3orf30	152405	broad.mit.edu	37	3	118867037	118867037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:118867037C>T	uc003ecb.1	+	1	1449	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.S470L	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	470										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GATGAATTTTCAGAAATTGAC	0.368000														60			41		0	0	0.005524	0	0
TYW1B	441250	broad.mit.edu	37	7	72277945	72277945	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:72277945C>G	uc011kej.2	-	4	596	c.437G>C	c.(436-438)gGc>gCc	p.G146A	TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	146	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AACATTTTTGCCAACCTGCGA	0.517000														72			12		0	0	0.002450	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792266	124792266	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:124792266C>T	uc003yqv.3	+	6	652	c.591C>T	c.(589-591)atC>atT	p.I197I	FAM91A1_uc011lik.1_Silent_p.I197I|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	197										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATAAGATCATCGATTCAGGCC	0.323000														42			23		0	0	0.003954	0	0
EYA4	2070	broad.mit.edu	37	6	133767844	133767844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:133767844G>A	uc011ecs.2	+	3	476	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	EYA4_uc011ecq.2_Missense_Mutation_p.E54K|EYA4_uc011ecr.2_Missense_Mutation_p.E54K|EYA4_uc003qec.4_Missense_Mutation_p.E54K|EYA4_uc003qed.4_Missense_Mutation_p.E54K|EYA4_uc003qee.4_Missense_Mutation_p.E54K|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	54					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCCAAACTGGAAAAATCTAA	0.438000														4			26		0	0	0.003954	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918210	111918210	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:111918210T>A	uc003dyu.3	-	19	2703	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	SLC9C1_uc011bhu.2_Missense_Mutation_p.L90F|SLC9C1_uc010hqc.3_Missense_Mutation_p.L779F	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	827					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAATTCCTTTTAAGCCAAAAG	0.313000														75			48		0	0	0.003610	0	0
LTBP3	4054	broad.mit.edu	37	11	65318909	65318909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:65318909G>A	uc001oej.3	-	9	1854	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	LTBP3_uc001oeh.3_5'Flank|LTBP3_uc010roi.2_Missense_Mutation_p.P412S|LTBP3_uc001oei.3_Missense_Mutation_p.P529S|LTBP3_uc010roj.2_Missense_Mutation_p.P230S|LTBP3_uc010rok.1_Missense_Mutation_p.P440S|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	529						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTGGCAGTTGGGTGGCTCTGC	0.652000														26			15		0	0	0.006122	0	0
SRRM4	84530	broad.mit.edu	37	12	119540121	119540121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:119540121C>T	uc001txa.2	+	1	600	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	71					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCACCGAGCCCTTGGGCACC	0.542000														3			23		0	0	0.002299	0	0
ZNF491	126069	broad.mit.edu	37	19	11917528	11917528	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:11917528C>A	uc002mso.1	+	2	1045	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	ZNF491_uc021upj.1_Missense_Mutation_p.R254S	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R254C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGCATTATCTCGCCTTATAAG	0.413000														17			27		6.32553e-13	8.14499e-13	0.004656	1	0
GABRA4	2557	broad.mit.edu	37	4	46967121	46967121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:46967121G>A	uc003gxg.3	-	7	1983	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	GABRA4_uc021xnz.1_Missense_Mutation_p.L315F|GABRA4_uc021xoa.1_Missense_Mutation_p.L264F	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	334					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACTCGATAAGGGCCGAAAAT	0.463000														26			44		0	0	0.002222	0	0
CCDC141	285025	broad.mit.edu	37	2	179736976	179736976	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179736976T>A	uc002une.2	-	12	2081	c.1963A>T	c.(1963-1965)Aac>Tac	p.N655Y	CCDC141_uc002unf.1_Missense_Mutation_p.N134Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	80							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTTCTGGTTTTCCATGGTG	0.418000														43			31		0	0	0.002836	0	0
MST1P2	11209	broad.mit.edu	37	1	16974677	16974677	+	RNA	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:16974677C>T	uc010och.2	+	6		c.1137C>T			MST1P2_uc001azk.2_Non-coding_Transcript|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.																		GTTGTACAGACGACGTGCGGC	0.697000														19			4		0	0	0.001168	0	0
SYT1	6857	broad.mit.edu	37	12	79679683	79679683	+	Missense_Mutation	SNP	G	A	A	rs138582600		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:79679683G>A	uc001sys.3	+	5	954	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SYT1_uc001syt.3_Missense_Mutation_p.E95K|SYT1_uc001syu.3_Missense_Mutation_p.E95K|SYT1_uc001syv.3_Missense_Mutation_p.E95K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	95					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.E95K(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGGGAAAGGAAAAAGGAGG	0.348000														13			14		0	0	0.002450	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560428	101560428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:101560428C>T	uc001thz.4	-	11	1760	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	457					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.V456I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTCCAATTCCAACCCATAG	0.393000														14			20		0	0	0.008871	0	0
DSTYK	25778	broad.mit.edu	37	1	205138813	205138813	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:205138813T>A	uc001hbw.3	-	2	866	c.802A>T	c.(802-804)Atc>Ttc	p.I268F	DSTYK_uc001hbx.3_Missense_Mutation_p.I268F|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	268						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTTTCGGATTTCCTGAAGC	0.448000														32			31		0	0	0.007291	0	0
C15orf2	23742	broad.mit.edu	37	15	24921772	24921772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:24921772G>A	uc001ywo.3	+	0	1232	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	253			G -> R (in dbSNP:rs1563102).		cell differentiation|multicellular organismal development|spermatogenesis			p.G253E(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGGCATCTTGGAAAGCCTGAT	0.637000														38			26		0	0	0.006320	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062327	144062327	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:144062327C>T	uc003wel.3	+	1	2683	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P	ARHGEF5_uc003wek.3_Silent_p.P855P|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	855					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCCATTGCCCCCAAAGTCCA	0.587000														84			38		0	0	0.002852	0	0
MYOCD	93649	broad.mit.edu	37	17	12666879	12666879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:12666879C>T	uc002gno.2	+	13	3178	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L	MYOCD_uc002gnn.2_Missense_Mutation_p.P912L|MYOCD_uc002gnq.2_Missense_Mutation_p.P636L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	912					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P912R(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAGCAGCCCCAGCATCTTC	0.512000														13			26		0	0	0.003330	0	0
GDF2	2658	broad.mit.edu	37	10	48414335	48414335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:48414335C>T	uc001jfa.1	-	1	693	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	178					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCATCTGTTCCATCCAGAAC	0.532000														1			24		0	0	0.003330	0	0
ZIC3	7547	broad.mit.edu	37	X	136649461	136649461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:136649461G>A	uc004fak.3	+	0	1116	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	204					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCAGTGGCCAGCCCGCGCACG	0.692000														3			42		0	0	0.008740	0	0
PHF21B	112885	broad.mit.edu	37	22	45279178	45279178	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:45279178G>A	uc003bfn.3	-	12	1535	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	PHF21B_uc011aqk.2_Silent_p.L408L|PHF21B_uc003bfm.3_Silent_p.L258L|PHF21B_uc011aql.2_Silent_p.L420L	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTCAACTCCAGGCATTTCTGT	0.637000														50			33		0	0	0.002445	0	0
DYSF	8291	broad.mit.edu	37	2	71766287	71766287	+	Splice_Site	SNP	G	A	A	rs141400095		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71766287G>A	uc010fen.3	+	17	1635	c.1494_splice	c.e17-1	p.W498_splice	DYSF_uc010fei.3_Splice_Site_p.W497_splice|DYSF_uc010feh.3_Splice_Site_p.W466_splice|DYSF_uc002sig.4_Splice_Site_p.W466_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.W497_splice|DYSF_uc010fee.3_Splice_Site_p.W466_splice|DYSF_uc010fef.3_Splice_Site_p.W497_splice|DYSF_uc002sie.3_Splice_Site_p.W466_splice|DYSF_uc010feo.3_Splice_Site_p.W498_splice|DYSF_uc010fej.3_Splice_Site_p.W467_splice|DYSF_uc010fel.3_Splice_Site_p.W467_splice|DYSF_uc010fem.3_Splice_Site_p.W467_splice|DYSF_uc002sif.3_Splice_Site_p.W467_splice|DYSF_uc010fek.3_Splice_Site_p.W498_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	466						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W466*(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTGCTCTAGGGACCGCCTGA	0.557000														50			52		0	0	0.003610	0	0
NTRK3	4916	broad.mit.edu	37	15	88476382	88476382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:88476382C>T	uc002bme.2	-	15	2056	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	NTRK3_uc002bmh.2_Missense_Mutation_p.D576N|NTRK3_uc002bmf.2_Missense_Mutation_p.D584N|NTRK3_uc021sua.1_Missense_Mutation_p.D576N|NTRK3_uc010upl.1_Missense_Mutation_p.D486N|NTRK3_uc010bnh.1_Missense_Mutation_p.D576N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	584	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D584E(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCTGGAAATCCTTCCGGGCA	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				48			42		0	0	0.003214	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936041	94936041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94936041G>A	uc001ydf.3	-	1	352	c.191C>T	c.(190-192)tCc>tTc	p.S64F	SERPINA9_uc001yde.3_Missense_Mutation_p.S64F|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.S64F|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	46					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTGTTGAGGGAATACACCTG	0.587000														48			33		0	0	0.002445	0	0
RYR3	6263	broad.mit.edu	37	15	34042414	34042414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:34042414G>A	uc001zhi.3	+	56	8396	c.8326G>A	c.(8326-8328)Gaa>Aaa	p.E2776K	RYR3_uc010bar.3_Missense_Mutation_p.E2776K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2776	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGCCAAGGAAAAGTTCAA	0.493000														11			14		0	0	0.003163	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189118	26189119	+	Silent	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:26189118_26189119GG>AA	uc003ngu.3	-	0	186_187	c.186_187CC>TT	c.(184-189)ttcctg>ttTTtg	p.62_63FL>FL		NM_003539	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4d (HIST1H4D), mRNA.	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ACATTTTCCAGGAAAACTTTCA	0.579000														51			67		0	0	0.004672	0	0
DVL3	1857	broad.mit.edu	37	3	183888383	183888383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:183888383C>T	uc003fms.3	+	14	2131	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	DVL3_uc011bqw.2_Missense_Mutation_p.P647L|DVL3_uc003fmt.3_Missense_Mutation_p.P335L|DVL3_uc003fmu.3_Missense_Mutation_p.P496L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	664					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCTACGGCCCCCCCATGCTG	0.736000														9			11		0	0	0.001368	0	0
GABRA1	2554	broad.mit.edu	37	5	161324166	161324166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:161324166C>T	uc010jiw.3	+	10	1577	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	GABRA1_uc010jix.3_Missense_Mutation_p.P370L|GABRA1_uc010jiy.3_Missense_Mutation_p.P370L|GABRA1_uc003lyx.4_Missense_Mutation_p.P370L|GABRA1_uc010jiz.3_Missense_Mutation_p.P370L|GABRA1_uc010jja.3_Missense_Mutation_p.P370L|GABRA1_uc010jjb.3_Missense_Mutation_p.P370L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	370					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACTTACGCTCCAACAGCAACC	0.438000														7			77		0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2613673	2613673	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:2613673C>T	uc001qkm.2	+	7	1498	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Silent_p.F395F|CACNA1C_uc001qkk.2_Silent_p.F395F|CACNA1C_uc001qkn.2_Silent_p.F395F|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.F131F|CACNA1C_uc009zdy.1_Silent_p.F20F|CACNA1C_uc001qkv.1_5'Flank	NM_001167625	NP_001161097	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 23, mRNA.	395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTTTTTCGTTCTAAATC	0.488000														89			59		0	0	0.003610	0	0
AGBL2	79841	broad.mit.edu	37	11	47712337	47712337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:47712337G>A	uc001ngg.3	-	9	1224	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.R270C|AGBL2_uc001ngh.1_Missense_Mutation_p.R252C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	308					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCTGAACACGAAAATAAAAC	0.403000														55			30		0	0	0.008361	0	0
C14orf133	63894	broad.mit.edu	37	14	77902196	77902196	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:77902196G>A	uc001xtt.2	-	13	1320	c.903C>T	c.(901-903)atC>atT	p.I301I	C14orf133_uc001xtu.2_Silent_p.I301I|C14orf133_uc001xtv.2_Silent_p.I301I|C14orf133_uc021rwu.1_Silent_p.I301I|C14orf133_uc010tvj.2_Silent_p.I252I	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	301					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCTCAATAATGATCTGACGTT	0.463000														50			46		0	0	0.003610	0	0
PFKM	5213	broad.mit.edu	37	12	48501918	48501918	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:48501918A>G	uc001rrb.2	+	2	420	c.146A>G	c.(145-147)aAg>aGg	p.K49R	SENP1_uc001rqw.3_5'Flank|SENP1_uc001rqx.3_5'Flank|SENP1_uc001rqy.3_5'Flank|SENP1_uc001rqz.3_5'Flank|SENP1_uc009zkx.3_5'Flank|PFKM_uc001rra.2_5'UTR	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACATCTTGAAGAGTCTAGAT	0.463000														40			91		0	0	0.003610	0	0
KCNA6	3742	broad.mit.edu	37	12	4919938	4919938	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:4919938G>T	uc001qng.3	+	0	1597	c.731G>T	c.(730-732)gGg>gTg	p.G244V	KCNA6_uc021qtr.1_Missense_Mutation_p.G244V	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	244						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAATGGGGACCGGGGGC	0.547000										HNSCC(72;0.22)				92			42		2.24059e-37	2.92808e-37	0.003610	1	0
KLHL18	23276	broad.mit.edu	37	3	47374698	47374698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47374698C>T	uc003crd.3	+	4	778	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	KLHL18_uc003crc.2_Missense_Mutation_p.P218S|KLHL18_uc011bav.2_Missense_Mutation_p.P106S|KLHL18_uc010hjq.2_Missense_Mutation_p.P69S	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	218	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCAGAGGGGTCCCTACCTGCC	0.592000														3			52		0	0	0.003610	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647325	34647325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:34647325G>A	uc002kzz.3	+	6	1071	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	KIAA1328_uc002lab.3_Missense_Mutation_p.G66E|KIAA1328_uc002lac.1_Missense_Mutation_p.G173E|KIAA1328_uc002lad.3_Missense_Mutation_p.G66E	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	350								p.G350R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CATGGTGGTGGGGCACTGCAA	0.458000														24			19		0	0	0.007413	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193244	132193244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:132193244C>T	uc003vra.4	-	1	438	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	PLXNA4_uc003vrc.2_Missense_Mutation_p.R70Q|PLXNA4_uc003vrb.3_Missense_Mutation_p.R70Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	70	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTGTAAATCCGATTGACGGC	0.577000														76			37		0	0	0.005524	0	0
CALB1	793	broad.mit.edu	37	8	91090675	91090675	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:91090675C>T	uc003yel.1	-	3	339	c.157_splice	c.e3-1	p.E53_splice	CALB1_uc003yem.1_Splice_Site|CALB1_uc011lge.1_Splice_Site	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	53	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GGTGATAACTCCTAAAATTAT	0.308000														74			30		0	0	0.001786	0	0
C21orf62	56245	broad.mit.edu	37	21	34166432	34166432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:34166432C>T	uc021wik.1	-	0	301	c.301G>A	c.(301-303)Gac>Aac	p.D101N	C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Missense_Mutation_p.D101N|C21orf62_uc011adt.2_Missense_Mutation_p.D101N|C21orf62_uc011adu.2_Missense_Mutation_p.D101N	NM_019596	NP_062542	Q9NYP8	CU062_HUMAN	Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA.	101										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AGCTTCAGGTCTTGGACCAGC	0.562000														36			24		0	0	0.003330	0	0
BC101079	0	broad.mit.edu	37	15	102292756	102292756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:102292756G>A	uc010usj.2	+	3	403	c.344G>A	c.(343-345)gGc>gAc	p.G115D	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GGCAGAGCAGGCACAGCGGCG	0.607000														9			4		0	0	0.000248	0	0
SCN7A	6332	broad.mit.edu	37	2	167288995	167288995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:167288995C>T	uc002udu.2	-	14	2555	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	809					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTGCTTTTTTCCTTATCTTTG	0.398000														155			131		0	0	0.003610	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918742	17918742	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17918742G>A	uc002nhl.1	+	1	273	c.126G>A	c.(124-126)gcG>gcA	p.A42A	B3GNT3_uc010ebd.1_Silent_p.A42A|B3GNT3_uc010ebe.1_Silent_p.A42A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	42					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						AGCCACCGGCGATCCCCGAGG	0.677000														8			24		0	0	0.003330	0	0
BDKRB2	624	broad.mit.edu	37	14	96703467	96703467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:96703467C>T	uc010avm.1	+	1	219	c.23C>T	c.(22-24)tCa>tTa	p.S8L	BDKRB2_uc010avl.2_Nonsense_Mutation_p.Q68*|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Missense_Mutation_p.S8L	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	8					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGGAAGATATCAATGTTTCTG	0.527000														70			51		0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	137928455	137928455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:137928455G>A	uc002tva.1	+	5	1577	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522000														28			21		0	0	0.001523	0	0
KCNH5	27133	broad.mit.edu	37	14	63447604	63447604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:63447604C>T	uc001xfx.3	-	5	979	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	KCNH5_uc001xfy.3_Missense_Mutation_p.E310K|KCNH5_uc001xfz.1_Missense_Mutation_p.E252K|KCNH5_uc001xga.3_Missense_Mutation_p.E252K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	310					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.E310K(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCACATTTTCAAAGGCATTG	0.363000														22			27		0	0	0.006320	0	0
PHC1	1911	broad.mit.edu	37	12	9083324	9083324	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:9083324G>A	uc001qvd.3	+	6	1062	c.906G>A	c.(904-906)ggG>ggA	p.G302G	PHC1_uc001qvc.1_Silent_p.G257G|PHC1_uc010sgn.1_Silent_p.G302G|PHC1_uc001qve.3_Silent_p.G302G	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	302					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGGGTGGTGGGAGCTGTCCCA	0.607000														4			8		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262057	140262057	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140262057C>T	uc003lif.2	+	0	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S68S|PCDHAC2_uc003lid.3_Silent_p.S68S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	86	Cadherin 1.				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)			GGGTGGCGTCCAAAAGACACG	0.622000														10			112		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82784917	82784917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:82784917C>T	uc003uhx.2	-	1	1329	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	PCLO_uc003uhv.2_Missense_Mutation_p.G347E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	320	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G347G(1)		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						TTTCACTGTCCCTGGTTGTTG	0.587000														31			22		0	0	0.002299	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246907	47246907	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:47246907G>A	uc002ion.2	+	10	1577	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	B4GALNT2_uc010wlt.1_Silent_p.G420G|B4GALNT2_uc010wlu.1_Silent_p.G446G	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	506					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATGGGCTAGGGACCCTACTCG	0.532000														67			69		0	0	0.003610	0	0
TRPA1	8989	broad.mit.edu	37	8	72963099	72963099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:72963099C>T	uc003xza.3	-	14	1994	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	607						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTAAGACATTCATCCCATCTG	0.338000														24			46		0	0	0.003610	0	0
OTUD4	54726	broad.mit.edu	37	4	146071980	146071980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:146071980G>A	uc003ika.4	-	11	989	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	348							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCCAGAAGTGGAAGGTTTTTT	0.423000														22			16		0	0	0.004990	0	0
PDE9A	5152	broad.mit.edu	37	21	44182282	44182282	+	Missense_Mutation	SNP	T	C	C	rs145560514		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:44182282T>C	uc002zbm.3	+	13	1238	c.1175T>C	c.(1174-1176)aTc>aCc	p.I392T	PDE9A_uc002zbn.3_Missense_Mutation_p.I265T|PDE9A_uc002zbo.3_Missense_Mutation_p.I339T|PDE9A_uc002zbp.3_Missense_Mutation_p.I185T|PDE9A_uc002zbq.3_Missense_Mutation_p.I290T|PDE9A_uc002zbs.3_Missense_Mutation_p.I185T|PDE9A_uc002zbr.3_Missense_Mutation_p.I185T|PDE9A_uc002zbt.3_Missense_Mutation_p.I264T|PDE9A_uc002zbu.3_Missense_Mutation_p.I258T|PDE9A_uc002zbv.3_Missense_Mutation_p.I232T|PDE9A_uc002zbw.3_Missense_Mutation_p.I175T|PDE9A_uc002zbx.3_Missense_Mutation_p.I332T|PDE9A_uc002zby.3_Missense_Mutation_p.I175T|PDE9A_uc002zbz.3_Missense_Mutation_p.I284T|PDE9A_uc002zca.3_Missense_Mutation_p.I351T|PDE9A_uc002zcb.3_Missense_Mutation_p.I366T|PDE9A_uc002zcc.3_Missense_Mutation_p.I291T|PDE9A_uc002zcd.3_Missense_Mutation_p.I306T|PDE9A_uc002zce.3_Missense_Mutation_p.I325T|PDE9A_uc002zcf.3_Missense_Mutation_p.I185T|PDE9A_uc002zcg.3_Missense_Mutation_p.I185T|PDE9A_uc010gpf.1_Missense_Mutation_p.I185T	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	392	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCTTCCAGATCCTCGCCGAG	0.612000														45			30		0	0	0.001786	0	0
NLRP11	204801	broad.mit.edu	37	19	56297232	56297232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56297232G>A	uc010ygf.2	-	11	3572	c.2861C>T	c.(2860-2862)cCa>cTa	p.P954L	NLRP11_uc002qlz.3_Missense_Mutation_p.P801L|NLRP11_uc002qmb.3_Missense_Mutation_p.P855L|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	954							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCAGTTAATGGAAGCCTGAA	0.433000														33			47		0	0	0.003610	0	0
SSTR2	6752	broad.mit.edu	37	17	71166319	71166319	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166319C>T	uc002jje.3	+	1	1221	c.861C>T	c.(859-861)acC>acT	p.T287T	SSTR2_uc021ucm.1_Silent_p.T287T	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	287					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCAGCCCCACCCCAGCCCTTA	0.502000														8			101		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28970648	28970648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:28970648G>A	uc002kwr.2	+	5	682	c.547G>A	c.(547-549)Gat>Aat	p.D183N	DSG4_uc002kwq.2_Missense_Mutation_p.D183N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	183	Cadherin 2.		Missing (in LAH1).		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)			ATGTGCCACAGATGCAGATGA	0.393000														45			20		0	0	0.001882	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857935	9857935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:9857935C>T	uc010uym.2	-	13	3776	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1156K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E999K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1156K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1156					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAAGTTTTCACTGGGATCC	0.527000														107			79		0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31537398	31537398	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31537398G>A	uc010dmi.3	-	7	1618	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	NOL4_uc010xbs.2_Silent_p.I155I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.I366I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	440						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATGAGTCAATGATAGCCTGGA	0.468000														32			10		0	0	0.006214	0	0
ENHO	375704	broad.mit.edu	37	9	34521573	34521573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:34521573C>T	uc022bgf.1	-	0	121	c.121G>A	c.(121-123)Gtt>Att	p.V41I	ENHO_uc003zun.1_Missense_Mutation_p.V41I|ENHO_uc003zuo.3_Non-coding_Transcript	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	Homo sapiens energy homeostasis associated (ENHO), mRNA.	41						extracellular region				endometrium(1)|lung(1)	2						AGAGAGTCAACGTCGGCAGAG	0.632000														38			28		0	0	0.006320	0	0
RBM22	55696	broad.mit.edu	37	5	150072520	150072520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:150072520G>A	uc003lst.3	-	9	1191	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	357	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGCTGGAGGACCACTTGGG	0.547000														7			78		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641671	121641671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121641671G>A	uc003eep.2	+	8	983	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	SLC15A2_uc011bjn.1_Missense_Mutation_p.R246Q	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	277					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATTCCAAAGCGACAGCACTGG	0.423000														29			14		0	0	0.004007	0	0
ROBO1	6091	broad.mit.edu	37	3	78766486	78766486	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:78766486G>A	uc003dqe.2	-	6	1064	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ROBO1_uc003dqc.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqb.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	286	Ig-like C2-type 3.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.R286R(6)|p.R263R(2)|p.R247R(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTCACCTCGGGCCTCACAT	0.428000														101			107		0	0	0.003610	0	0
ODZ1	10178	broad.mit.edu	37	X	123785916	123785916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:123785916G>A	uc010nqy.3	-	7	1491	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	ODZ1_uc011muj.2_Missense_Mutation_p.S475F|ODZ1_uc004euj.3_Missense_Mutation_p.S476F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	476					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTATCATCAGAGCCCTTGGA	0.433000														2			42		0	0	0.002522	0	0
LZTR1	8216	broad.mit.edu	37	22	21328425	21328425	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:21328425G>A	uc002ztj.2	+	4	647	c.429G>A	c.(427-429)gaG>gaA	p.E143E	LZTR1_uc002ztk.2_Silent_p.E143E|LZTR1_uc002ztl.2_Silent_p.E149E|LZTR1_uc011ahx.1_Silent_p.E131E	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGACCTGGAGGACTTCCCTG	0.667000														34			17		0	0	0.006122	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535920	69535920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:69535920C>T	uc021xow.1	-	0	575	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	139					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CTTGTAGTTTCATCATAAGTT	0.358000														150			63		0	0	0.003610	0	0
MME	4311	broad.mit.edu	37	3	154861319	154861319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:154861319C>T	uc010hvr.1	+	12	1487	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	MME_uc003fab.1_Missense_Mutation_p.L426F|MME_uc003fac.1_Missense_Mutation_p.L426F|MME_uc003fad.1_Missense_Mutation_p.L426F|MME_uc003fae.1_Missense_Mutation_p.L426F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	426					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)	TGTGGGGAGGCTTTATGTGGA	0.413000														75			45		0	0	0.003214	0	0
FSIP1	161835	broad.mit.edu	37	15	40057916	40057916	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:40057916T>C	uc001zki.3	-	3	560	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	114										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CATCTTGAAGTTGAGAATCTA	0.274000														40			18		0	0	0.001882	0	0
FAM5C	339479	broad.mit.edu	37	1	190234137	190234137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:190234137C>T	uc001gse.1	-	3	708	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	FAM5C_uc010pot.1_Missense_Mutation_p.R57Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	159						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCTTCAGCTCGTTTGCTCAA	0.408000														2			62		0	0	0.003610	0	0
FRG2B	441581	broad.mit.edu	37	10	135440179	135440179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:135440179G>A	uc010qvg.2	-	0	121	c.68C>T	c.(67-69)cCt>cTt	p.P23L		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	23						nucleus		p.P22T(1)|p.P22H(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGTTGGAAAGGGGGCTGGTC	0.498000														196			16		0	0	0.002780	0	0
DSTYK	25778	broad.mit.edu	37	1	205138811	205138811	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:205138811G>A	uc001hbw.3	-	2	868	c.804C>T	c.(802-804)atC>atT	p.I268I	DSTYK_uc001hbx.3_Silent_p.I268I|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	268						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AATACTTTCGGATTTCCTGAA	0.443000														32			30		0	0	0.006320	0	0
ERC2	26059	broad.mit.edu	37	3	56041241	56041241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:56041241C>T	uc021wzo.1	-	8	2169	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	ERC2_uc003dhr.1_Missense_Mutation_p.E677K|ERC2_uc003dht.1_Missense_Mutation_p.E148K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	677						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGCTACATTCCTCTTTCTTT	0.333000														0			6		0	0	0.001168	0	0
EFHA2	286097	broad.mit.edu	37	8	16962938	16962938	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:16962938C>T	uc003wxd.2	+	10	1144	c.1102C>T	c.(1102-1104)Caa>Taa	p.Q368*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	368						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGATAATCTCCAAACAGAAGT	0.313000														17			3		0	0	0.004672	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:73056945C>T	uc001sxa.3	+	18	3075	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000														16			30		0	0	0.001786	0	0
TRHR	7201	broad.mit.edu	37	8	110100093	110100093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:110100093G>A	uc003ymz.4	+	0	441	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	118						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTCAATAACAGCCTTTACCAT	0.433000														52			20		0	0	0.001523	0	0
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:84811238C>T	uc010fgb.3	+	14	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_uc002soo.3_Missense_Mutation_p.S361F|DNAH6_uc002sop.3_Missense_Mutation_p.S361F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	782	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						ATGAAGCCATCCATTGTTGCT	0.398000														53			41		0	0	0.007835	0	0
SLC2A3	6515	broad.mit.edu	37	12	8075454	8075454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:8075454G>A	uc001qtr.3	-	8	1497	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	412					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAGGAAGTTGGAGGTCCAGTT	0.537000														62			50		0	0	0.003610	0	0
UNC80	285175	broad.mit.edu	37	2	210640652	210640652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:210640652C>T	uc010zjc.1	+	2	261	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	UNC80_uc021vvx.1_Missense_Mutation_p.L61F|UNC80_uc002vdj.1_Missense_Mutation_p.L61F	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	61						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCTGCATGGCCTCTCTCCAGC	0.453000														104			63		0	0	0.003610	0	0
CARD6	84674	broad.mit.edu	37	5	40852421	40852421	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:40852421C>T	uc003jmg.3	+	2	1062	c.987C>T	c.(985-987)ttC>ttT	p.F329F		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	329					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTGGAATTTCCTGATGAAAG	0.463000														41			24		0	0	0.002780	0	0
RIN3	79890	broad.mit.edu	37	14	93151445	93151445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:93151445G>A	uc001yap.3	+	8	2733	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	RIN3_uc010auk.3_Missense_Mutation_p.E523K|RIN3_uc001yaq.3_Missense_Mutation_p.E786K|RIN3_uc001yas.1_Missense_Mutation_p.E523K	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	861					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCACCGCTGGGAGCGCCGGCG	0.672000														18			24		0	0	0.003330	0	0
FUT6	2528	broad.mit.edu	37	19	5831951	5831951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:5831951G>A	uc002mdf.1	-	3	1154	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	FUT6_uc021unl.1_Nonsense_Mutation_p.Q210*|FUT6_uc002mdg.1_Nonsense_Mutation_p.Q210*|FUT6_uc002mdh.1_Nonsense_Mutation_p.Q210*|FUT6_uc021unm.1_Nonsense_Mutation_p.Q210*	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	210					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGGCTCTGGTAGTAGCGC	0.647000														42			63		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	12	49416070	49416071	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49416070_49416071GG>AA	uc001rta.4	-	51	16404_16405	c.16404_16405CC>TT	c.(16402-16407)ggccct>ggTTct	p.P5469S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5469	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCTGGCAGGGCCGCCGGTCA	0.490000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				5			16		0	0	0.004672	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4976637C>T	uc010qyt.2	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000														7			93		0	0	0.003610	0	0
SMR3A	26952	broad.mit.edu	37	4	71232674	71232674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:71232674C>T	uc003hfg.1	+	2	449	c.368C>T	c.(367-369)tCt>tTt	p.S123F	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	123	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCTGTAAATTCTCCAACTGAT	0.512000														23			38		0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9068790	9068790	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9068790T>C	uc002mkp.3	-	2	18860	c.18656A>G	c.(18655-18657)aAc>aGc	p.N6219S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6221	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N6219I(3)|p.N1852I(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						AGAGAGAGAGTTGGCTTCTTC	0.458000														70			46		0	0	0.003610	0	0
GFPT2	9945	broad.mit.edu	37	5	179755283	179755283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:179755283G>A	uc003mlw.1	-	6	688	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	197	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCACCGTGTGGCAACGGCTTC	0.532000											OREG0017113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			37		0	0	0.007835	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466899	50466899	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:50466899A>G	uc001vdk.2	+	0	2355	c.2173A>G	c.(2173-2175)Acc>Gcc	p.T725A						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TCCTCCAGGAACCATGTTTGG	0.527000														41			68		0	0	0.003610	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062918	48062918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:48062918C>T	uc010bek.3	+	18	2518	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	SEMA6D_uc001zvw.3_Missense_Mutation_p.L658F|SEMA6D_uc001zvy.3_Missense_Mutation_p.L720F|SEMA6D_uc001zvz.3_Missense_Mutation_p.L664F|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.L658F|SEMA6D_uc001zwc.3_Missense_Mutation_p.L645F	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	720					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACTGAATGGTCTCTTTGACAG	0.443000														70			38		0	0	0.005524	0	0
LAMC2	3918	broad.mit.edu	37	1	183197521	183197521	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:183197521A>G	uc001gqa.2	+	10	1795	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	LAMC2_uc001gpz.4_Missense_Mutation_p.E494G|LAMC2_uc010poa.2_Missense_Mutation_p.E194G	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	494	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCGCTGTGAGCTCTGTGCT	0.562000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			65		0	0	0.003610	0	0
PRSS58	136541	broad.mit.edu	37	7	141955396	141955396	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:141955396G>A	uc003vxb.3	-	1	458	c.138C>T	c.(136-138)atC>atT	p.I46I	PRSS58_uc003vxc.4_Silent_p.I46I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	46	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.L45L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AAAGCGGGTGGATCAGGACTC	0.498000														84			38		0	0	0.006230	0	0
VARS	7407	broad.mit.edu	37	6	31747260	31747260	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:31747260G>A	uc003nxe.3	-	27	3765	c.3342C>T	c.(3340-3342)atC>atT	p.I1114I	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.I51I	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1114					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGCTCGCGTGATGCTTAGCG	0.697000														170			278		0	0	0.003610	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														13			9		0	0	0.006214	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77468357	77468357	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:77468357A>G	uc002ffc.4	-	1	555	c.136T>C	c.(136-138)Tta>Cta	p.L46L	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.	46					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						TCACTGGCTAAGGCCGCGGCG	0.642000														9			5		0	0	0.001168	0	0
MYH1	4619	broad.mit.edu	37	17	10399748	10399748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10399748C>T	uc002gmo.3	-	33	4869	c.4775G>A	c.(4774-4776)aGa>aAa	p.R1592K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1592						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1592K(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTGGTTTCTCTTCATCTG	0.463000														105			43		0	0	0.008740	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036488	21036488	+	Missense_Mutation	SNP	C	T	T	rs78627909		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:21036488C>T	uc010sil.2	+	10	1699	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	SLCO1B3_uc001rek.3_Missense_Mutation_p.S545F|SLCO1B3_uc001rel.3_Missense_Mutation_p.S545F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	545					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S545C(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTCATAAACTCTTTGTTCTCT	0.358000														59			50		0	0	0.003610	0	0
CD33	945	broad.mit.edu	37	19	51738439	51738439	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:51738439T>C	uc002pwa.2	+	4	813	c.773T>C	c.(772-774)gTt>gCt	p.V258A	CD33_uc010eos.1_Missense_Mutation_p.V258A|CD33_uc010eot.1_Missense_Mutation_p.V131A|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	258					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCAGGAGTGGTTCATGGGGCC	0.493000														33			47		0	0	0.003610	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706849	33706849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:33706849G>A	uc002num.2	-	1	329	c.182C>T	c.(181-183)tCg>tTg	p.S61L	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	61					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCCCTTGGGCGAGATGAAGAT	0.667000														8			6		0	0	0.001168	0	0
GLI3	2737	broad.mit.edu	37	7	42004024	42004024	+	Silent	SNP	C	T	T	rs111446996		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:42004024C>T	uc011kbh.2	-	14	4738	c.4647G>A	c.(4645-4647)gcG>gcA	p.A1549A	GLI3_uc011kbg.2_Silent_p.A1490A	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1549					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCATGGACAGCGCTGGGAATG	0.567000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					71			15		0	0	0.003163	0	0
LRPPRC	10128	broad.mit.edu	37	2	44121759	44121759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:44121759C>T	uc002rtr.2	-	35	3968	c.3910G>A	c.(3910-3912)Gtg>Atg	p.V1304M		NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1304	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAGATTTCACAGTTGATGCC	0.279000														195			178		0	0	0.003610	0	0
GFAP	2670	broad.mit.edu	37	17	42988735	42988735	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42988735C>T	uc021tyh.1	-	5	1062	c.996G>A	c.(994-996)gaG>gaA	p.E332E	GFAP_uc002ihq.3_Silent_p.E332E|GFAP_uc002ihr.3_Silent_p.E332E|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	332	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCCCCTCTTCCTCCAGCCGCG	0.652000														20			32		0	0	0.002096	0	0
TPO	7173	broad.mit.edu	37	2	1480956	1480956	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:1480956G>A	uc002qwr.3	+	7	1004	c.918G>A	c.(916-918)ggG>ggA	p.G306G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G306G|TPO_uc002qwx.3_Silent_p.G306G|TPO_uc002qwu.3_Silent_p.G306G|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.G306G	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTCTTTGGGAACCTGTCCA	0.711000														25			17		0	0	0.004990	0	0
CERS5	91012	broad.mit.edu	37	12	50524405	50524405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:50524405G>A	uc001rwd.4	-	9	1119	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CERS5_uc001rwc.3_3'UTR|CERS5_uc001rwe.4_Missense_Mutation_p.P309S|CERS5_uc001rwf.4_Non-coding_Transcript	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	368					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGTCACAGGGACTTTTTGTG	0.517000														65			30		0	0	0.007291	0	0
TC2N	123036	broad.mit.edu	37	14	92268603	92268603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:92268603C>T	uc001xzu.4	-	3	655	c.464G>A	c.(463-465)gGa>gAa	p.G155E	TC2N_uc001xzt.4_Missense_Mutation_p.G155E|TC2N_uc010auc.3_Missense_Mutation_p.G155E|TC2N_uc001xzv.4_Missense_Mutation_p.G155E	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	155						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CATACCCGATCCATACAGTCT	0.358000														29			18		0	0	0.001523	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239185	55239185	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55239185T>G	uc002qgu.1	+	3	482	c.464T>G	c.(463-465)cTg>cGg	p.L155R		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	155	Ig-like C2-type 2.					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)		CGCTTCCTTCTGCACAGAGAG	0.582000														1			45		0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57417853	57417853	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:57417853C>T	uc001cyp.3	-	5	601	c.534_splice	c.e5-1	p.G178_splice	C8B_uc010oon.2_Splice_Site_p.G116_splice|C8B_uc010ooo.2_Splice_Site_p.G126_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	178	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAAATTTATCCTGTGAGGAA	0.448000														6			61		0	0	0.003610	0	0
CDH4	1002	broad.mit.edu	37	20	60485588	60485588	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:60485588C>T	uc002ybn.2	+	8	1387	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	CDH4_uc002ybr.2_Silent_p.I396I|CDH4_uc002ybp.2_Silent_p.I359I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	433	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGCATCATCAGTGGGGATC	0.602000														21			23		0	0	0.003954	0	0
SMOC1	64093	broad.mit.edu	37	14	70478208	70478208	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:70478208G>A	uc001xlt.2	+	8	1146	c.864G>A	c.(862-864)gtG>gtA	p.V288V	SMOC1_uc001xls.2_Silent_p.V288V	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	288	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGCTACGTGATGCCCAGTT	0.582000														45			50		0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21894070	21894070	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21894070G>A	uc003svc.3	+	68	11251	c.11220G>A	c.(11218-11220)ttG>ttA	p.L3740L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3740					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTCTCTTTGAAGGTAATGC	0.338000									Kartagener syndrome					62			23		0	0	0.005443	0	0
LMBR1L	55716	broad.mit.edu	37	12	49491488	49491488	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49491488G>T	uc001rth.4	-	16	1779	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	DHH_uc001rtf.3_5'Flank|LMBR1L_uc001rtg.4_Missense_Mutation_p.F474L|LMBR1L_uc001rti.4_Missense_Mutation_p.F459L	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	479					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGCCTGGGGGAAACCGGAGA	0.607000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			32		1.42033e-22	1.8424e-22	0.004289	1	0
LMF1	64788	broad.mit.edu	37	16	984245	984245	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:984245G>A	uc021tae.1	-	3	518	c.514_splice	c.e3+1	p.G172_splice	LMF1_uc010uuu.2_Splice_Site|LMF1_uc021tad.1_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Splice_Site|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	172						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCACTTACCGAAAGAGTACC	0.458000														31			21		0	0	0.003330	0	0
BIRC7	79444	broad.mit.edu	37	20	61869964	61869965	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:61869964_61869965CC>TT	uc002yej.3	+	3	748_749	c.575_576CC>TT	c.(574-576)tcc>tTT	p.S192F	BIRC7_uc010gkc.1_Missense_Mutation_p.S192F|BIRC7_uc002yei.3_Missense_Mutation_p.S192F|MIR3196_uc021wga.1_5'Flank	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	192					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GTGGCCCCCTCCGGTGAGAGCT	0.658000														62			48		0	0	0.004672	0	0
TRIM68	55128	broad.mit.edu	37	11	4621725	4621725	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4621725G>A	uc001lzf.2	-	6	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	413	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAAGGACAGGATTGGGTACT	0.537000														54			24		0	0	0.007291	0	0
ODZ3	55714	broad.mit.edu	37	4	183245358	183245358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:183245358G>A	uc003ivd.1	+	0	260	c.185G>A	c.(184-186)aGa>aAa	p.R62K	ODZ3_uc021xux.1_Missense_Mutation_p.R62K|ODZ3_uc010irv.1_Missense_Mutation_p.R62K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	62	Teneurin N-terminal.				signal transduction	integral to membrane		p.R62K(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TACGGCAACAGAGTGAAGGAT	0.473000														28			23		0	0	0.005443	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711920	140711920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140711920G>A	uc003lji.2	+	0	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D557N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	559	Cadherin 5.				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)			GGACCAGAACGACAACGCGCC	0.642000														12			110		0	0	0.003610	0	0
RANBP2	5903	broad.mit.edu	37	2	109400092	109400092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:109400092C>T	uc002tem.4	+	28	9536	c.9410C>T	c.(9409-9411)tCc>tTc	p.S3137F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	3137	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCGGACAGTCCATTTATGGA	0.328000														58			33		0	0	0.004289	0	0
GALNT13	114805	broad.mit.edu	37	2	155099233	155099233	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:155099233G>A	uc002tyt.4	+	3	605	c.501G>A	c.(499-501)gaG>gaA	p.E167E	GALNT13_uc002tyr.4_Silent_p.E167E|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	167	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L166I(1)		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						TGACATTAGAGAATTACGTGA	0.338000														19			16		0	0	0.007413	0	0
CACNG4	27092	broad.mit.edu	37	17	65021058	65021058	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:65021058G>A	uc002jft.2	+	2	435	c.387G>A	c.(385-387)agG>agA	p.R129R		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	129					membrane depolarization|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 activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GTGCTGGCAGGATCTACAGCC	0.687000														70			62		0	0	0.003610	0	0
NTRK3	4916	broad.mit.edu	37	15	88476248	88476248	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:88476248G>A	uc002bme.2	-	15	2190	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	NTRK3_uc002bmh.2_Silent_p.F620F|NTRK3_uc002bmf.2_Silent_p.F628F|NTRK3_uc021sua.1_Silent_p.F620F|NTRK3_uc010upl.1_Silent_p.F530F|NTRK3_uc010bnh.1_Silent_p.F620F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	628	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTACCTGAGGAACTTATTCA	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				22			23		0	0	0.006320	0	0
IFI27	3429	broad.mit.edu	37	14	94582839	94582839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94582839C>T	uc021sba.1	+	4	458	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	112					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TCTGCCATTGCGGCTGTCATT	0.602000														30			10		0	0	0.000978	0	0
TACR2	6865	broad.mit.edu	37	10	71174766	71174766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:71174766C>T	uc001jpn.2	-	1	1117	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	174					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CACCCTGGTCCATGGTGACGG	0.642000														10			61		0	0	0.003610	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798067	55798067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55798067C>T	uc010riw.2	+	0	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTCAAATTCCCATGTATTAT	0.343000														19			25		0	0	0.003954	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517871	158517871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158517871C>T	uc010pil.2	-	0	25	c.25G>A	c.(25-27)Gat>Aat	p.D9N		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTATGATTATCTACTTCCAGA	0.433000														75			17		0	0	0.004990	0	0
NFAT5	10725	broad.mit.edu	37	16	69681273	69681274	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:69681273_69681274CC>TT	uc002exm.2	+	2	878_879	c.542_543CC>TT	c.(541-543)tcc>tTT	p.S181F	NFAT5_uc002exj.2_Missense_Mutation_p.S105F|NFAT5_uc002exk.2_Missense_Mutation_p.S105F|NFAT5_uc002exl.2_Missense_Mutation_p.S199F|NFAT5_uc002exn.2_Missense_Mutation_p.S199F|NFAT5_uc002exh.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.S105F	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	181					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATTCCCCCTCCAACTTCAGTA	0.510000														40			30		0	0	0.004672	0	0
POM121C	100101267	broad.mit.edu	37	7	75050949	75050950	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:75050949_75050950GG>AA	uc003udk.4	-	12	3470_3471	c.2585_2586CC>TT	c.(2584-2586)acc>aTT	p.T862I		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1104	Pore side (Potential).|Thr-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						TGAAAGCTCCGGTGGTGGCGCT	0.649000														27			26		0	0	0.004672	0	0
TTC18	118491	broad.mit.edu	37	10	75072323	75072323	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:75072323G>A	uc009xrc.3	-	10	1322	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	TTC18_uc001jty.3_Silent_p.L401L|TTC18_uc009xrd.1_Silent_p.L209L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	401							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)					TTGGACAGCAGAGAATTAATT	0.368000														12			86		0	0	0.003610	0	0
SYT5	6861	broad.mit.edu	37	19	55687136	55687136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55687136C>T	uc002qjm.1	-	3	1541	c.481G>A	c.(481-483)Gag>Aag	p.E161K	SYT5_uc002qjp.2_Missense_Mutation_p.E158K|SYT5_uc002qjn.1_Missense_Mutation_p.E161K|SYT5_uc002qjo.1_Missense_Mutation_p.E161K	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	161	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGGTCTCGTACCGCCTC	0.607000														26			64		0	0	0.003610	0	0
MYOM2	9172	broad.mit.edu	37	8	2054311	2054311	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:2054311G>A	uc003wpx.4	+	22	3060	c.2922G>A	c.(2920-2922)aaG>aaA	p.K974K	MYOM2_uc011kwi.2_Silent_p.K399K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	974	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle	p.D973N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCGGATAAGGAGGATTTAG	0.408000														14			14		0	0	0.002450	0	0
ACLY	47	broad.mit.edu	37	17	40063734	40063734	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:40063734G>A	uc002hyg.3	-	6	871	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_uc002hyh.3_Silent_p.I236I|ACLY_uc002hyi.3_Silent_p.I290I|ACLY_uc010wfx.2_Silent_p.I290I|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	236					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587000														98			36		0	0	0.002522	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:151935417G>A	uc022chl.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_uc004fgp.3_Silent_p.F250F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000														5			93		0	0	0.003610	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833128	34833128	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:34833128G>A	uc002nvd.4	+	9	3148	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	763										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATCCCAGCAGCCAGCGCAGG	0.587000														62			118		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38266355	38266355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:38266355G>A	uc010abx.3	-	3	1250	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.L339F|TRPC4_uc001uws.3_Missense_Mutation_p.L339F|TRPC4_uc010tey.2_Missense_Mutation_p.L339F|TRPC4_uc010abw.3_Missense_Mutation_p.L166F|TRPC4_uc010aby.3_Missense_Mutation_p.L339F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	339					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAGGAAAAAGAAGTCCTATT	0.478000														16			45		0	0	0.002852	0	0
ADAM18	8749	broad.mit.edu	37	8	39467034	39467034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:39467034G>A	uc003xni.3	+	4	353	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ADAM18_uc003xnh.3_Missense_Mutation_p.E100K|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E100K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	100					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.E100K(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATATGCTGCCGAATTTCCAAA	0.323000														20			25		0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13754446	13754446	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13754446G>A	uc003jfd.2	-	62	10462	c.10420_splice	c.e62-1	p.T3474_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3474	Stalk (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)					TTCAAGCAAGGTCTAACAAAG	0.423000									Kartagener syndrome					71			44		0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36130312	36130312	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:36130312T>C	uc003gsq.2	-	20	3821	c.3483A>G	c.(3481-3483)gaA>gaG	p.E1161E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1161	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCCAGGAGTTCACTTATAT	0.328000														17			28		0	0	0.008361	0	0
ITGA5	3678	broad.mit.edu	37	12	54798975	54798975	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54798975C>T	uc001sga.3	-	11	1268	c.1200G>A	c.(1198-1200)ggG>ggA	p.G400G	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	400					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGTCCAGGTCCCCCAGGGGGG	0.602000														78			23		0	0	0.003330	0	0
SKIL	6498	broad.mit.edu	37	3	170108058	170108058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:170108058G>A	uc003fgu.3	+	4	2189	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T	SKIL_uc011bps.2_Missense_Mutation_p.A473T|SKIL_uc003fgv.3_Missense_Mutation_p.A447T|SKIL_uc003fgw.3_Missense_Mutation_p.A493T	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	493					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATCTGAGTCTGCCACTTGCAA	0.368000														37			28		0	0	0.007291	0	0
SHANK2	22941	broad.mit.edu	37	11	70332945	70332945	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:70332945C>T	uc001oqc.3	-	20	3367	c.3255G>A	c.(3253-3255)agG>agA	p.R1085R	SHANK2_uc010rqn.2_Silent_p.R561R|SHANK2_uc001opz.3_Silent_p.R556R|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.	772					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)			TTTCGGGCTCCCTGGGCGTGG	0.677000														60			20		0	0	0.008871	0	0
TMEM181	57583	broad.mit.edu	37	6	158957847	158957847	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:158957847C>T	uc003qrm.4	+	0	380	c.369C>T	c.(367-369)taC>taT	p.Y123Y	TMEM181_uc010kjr.1_5'UTR	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	123					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GGGAAGCGTACCGCGAGCTCA	0.726000														3			38		0	0	0.002852	0	0
CDH8	1006	broad.mit.edu	37	16	61689414	61689414	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:61689414G>A	uc002eog.2	-	10	2821	c.1866C>T	c.(1864-1866)ggC>ggT	p.G622G		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	622					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G622G(4)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAATTAAGGCGCCCATACTGA	0.448000														29			37		0	0	0.004878	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562320	32562320	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:32562320C>T	uc001wrl.3	+	1	2684	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S	ARHGAP5_uc001wrm.3_Silent_p.S815S|ARHGAP5_uc001wrn.3_Silent_p.S815S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	815					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAATAATTCCCTAATGCTTG	0.388000														55			48		0	0	0.003610	0	0
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100468309C>T	uc003uww.3	+	5	1113	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TRIP6_uc010lhk.2_Missense_Mutation_p.R49C|TRIP6_uc022aiv.1_Missense_Mutation_p.R294C|TRIP6_uc022ait.1_Missense_Mutation_p.R49C|TRIP6_uc022aiu.1_Missense_Mutation_p.R49C	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	315	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617000														73			43		0	0	0.008740	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172358	47172358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:47172358G>A	uc001rpi.2	-	10	1318	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	SLC38A4_uc001rpj.2_Missense_Mutation_p.H307Y	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	307					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCACTGTCATGAAGAGAGCCC	0.478000														33			18		0	0	0.007413	0	0
ADD1	118	broad.mit.edu	37	4	2899946	2899946	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:2899946C>T	uc003gfq.3	+	6	965	c.777C>T	c.(775-777)tcC>tcT	p.S259S	ADD1_uc010ico.1_Silent_p.S259S|ADD1_uc003gfo.3_Silent_p.S259S|ADD1_uc003gfp.3_Silent_p.S259S|ADD1_uc003gfr.3_Silent_p.S259S|ADD1_uc003gfs.3_Silent_p.S259S|ADD1_uc003gft.3_Silent_p.S259S|ADD1_uc003gfu.3_Silent_p.S9S	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	259					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCAATCTCCCCGGAGGCGC	0.463000														74			39		0	0	0.003214	0	0
SERPINA3	12	broad.mit.edu	37	14	95080941	95080941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:95080941G>A	uc001ydp.3	+	1	322	c.163G>A	c.(163-165)Gac>Aac	p.D55N	SERPINA3_uc001ydo.4_Missense_Mutation_p.D80N|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.D55N|SERPINA3_uc001yds.3_Missense_Mutation_p.D55N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	55				D -> S (in Ref. 12; AA sequence).	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V54G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGCCAACGTGGACTTCGCTTT	0.567000														90			51		0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21788221	21788221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21788221G>A	uc003svc.3	+	52	8586	c.8555G>A	c.(8554-8556)cGa>cAa	p.R2852Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2852	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGGATCTTACGAACCCCTCAG	0.522000									Kartagener syndrome					37			24		0	0	0.002780	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														47			5		0	0	0.001168	0	0
LOC81691	81691	broad.mit.edu	37	16	20856428	20856428	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20856428G>C	uc002dhy.4	+	17	2364	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Missense_Mutation_p.K663N|LOC81691_uc002dhx.3_Missense_Mutation_p.K632N	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	663	RRM 2.					nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TCACAGGCAAGGACTGGAAGC	0.537000														33			21		0	0	0.003330	0	0
ART1	417	broad.mit.edu	37	11	3681025	3681025	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:3681025G>A	uc001lye.1	+	2	377	c.276G>A	c.(274-276)agG>agA	p.R92R	ART1_uc009yeb.1_Silent_p.R92R	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	92					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GTCAGGCCAGGTGGCCAGAGT	0.652000														15			15		0	0	0.004990	0	0
C16orf88	400506	broad.mit.edu	37	16	19721848	19721848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19721848C>T	uc002dgq.3	-	3	1063	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	350	Interaction with ZFP106 (By similarity).					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TTCCTGGTTTCAGAAGCTTCC	0.592000														80			75		0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	185984530	185984530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:185984530G>A	uc001grq.1	+	30	5099	c.4870G>A	c.(4870-4872)Gct>Act	p.A1624T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1624	Ig-like C2-type 13.		A -> V.		response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCAATGTTGCTGGAACTGC	0.373000														78			26		0	0	0.007291	0	0
C15orf2	23742	broad.mit.edu	37	15	24921296	24921296	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:24921296C>T	uc001ywo.3	+	0	756	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	94					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCTGGCCATCAGGAAGACAC	0.672000														36			31		0	0	0.003755	0	0
SCN5A	6331	broad.mit.edu	37	3	38647508	38647508	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38647508G>A	uc021wvo.1	-	8	1324	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SCN5A_uc021wvk.1_Silent_p.I424I|SCN5A_uc021wvl.1_Silent_p.I424I|SCN5A_uc021wvm.1_Silent_p.I424I|SCN5A_uc021wvn.1_Silent_p.I424I|SCN5A_uc021wvp.1_Silent_p.I424I|SCN5A_uc021wvq.1_Silent_p.I424I|SCN5A_uc021wvr.1_Silent_p.I424I|SCN5A_uc021wvs.1_Silent_p.I424I|SCN5A_uc021wvt.1_Silent_p.I424I|SCN5A_uc021wvu.1_Silent_p.I424I|SCN5A_uc021wvv.1_Silent_p.I424I|SCN5A_uc021wvj.1_Silent_p.I290I|SCN5A_uc021wvi.1_Silent_p.I290I|SCN5A_uc021wvw.1_Silent_p.I35I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	424					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTCTCAGCGATGGTGGCTT	0.552000														6			42		0	0	0.003610	0	0
ESRP1	54845	broad.mit.edu	37	8	95709087	95709087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:95709087C>T	uc003ygq.4	+	14	2162	c.1979C>T	c.(1978-1980)aCc>aTc	p.T660I	ESRP1_uc003ygr.4_Missense_Mutation_p.T656I|ESRP1_uc003ygs.4_Intron|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Intron|ESRP1_uc003ygw.3_Missense_Mutation_p.P450S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	660					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TAGTATGCAACCGAGGATGGA	0.383000														92			111		0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98513439	98513439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:98513439C>T	uc003upp.3	+	18	2502	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C	TRRAP_uc011kis.2_Missense_Mutation_p.R765C|TRRAP_uc003upr.3_Missense_Mutation_p.R457C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	765					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCGCTGTTTCGCTCTATTGG	0.527000														53			43		0	0	0.002852	0	0
PEG3	5178	broad.mit.edu	37	19	57325196	57325197	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:57325196_57325197GG>AA	uc002qnu.2	-	6	4964_4965	c.4613_4614CC>TT	c.(4612-4614)gcc>gTT	p.A1538V	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1509V|PEG3_uc002qnv.2_Missense_Mutation_p.A1538V|PEG3_uc002qnw.2_Missense_Mutation_p.A1414V|PEG3_uc002qnx.2_Missense_Mutation_p.A1412V|PEG3_uc010etr.2_Missense_Mutation_p.A1538V	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1538					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ACTCCCCAAAGGCATTTGCAGG	0.495000														68			23		0	0	0.004672	0	0
KALRN	8997	broad.mit.edu	37	3	124149562	124149562	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:124149562C>T	uc003ehg.3	+	15	2890	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	KALRN_uc010hrv.1_Silent_p.S921S|KALRN_uc003ehf.1_Silent_p.S921S|KALRN_uc011bjy.1_Silent_p.S921S|KALRN_uc003ehh.1_Silent_p.S267S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	921					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						TCAATGCCAGCTCTTTGTCGG	0.577000														42			31		0	0	0.002096	0	0
LILRB4	11006	broad.mit.edu	37	19	55174488	55174488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55174488G>A	uc002qgp.3	+	0	365	c.3G>A	c.(1-3)atG>atA	p.M1I	LILRB4_uc002qgo.1_Missense_Mutation_p.M42I|LILRB4_uc002qgq.3_Missense_Mutation_p.M1I|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.M42I|LILRB4_uc010eru.3_Missense_Mutation_p.M42I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	1						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGACGCCATGATCCCCACCT	0.617000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		32			51		0	0	0.003610	0	0
RAI2	10742	broad.mit.edu	37	X	17819064	17819064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:17819064G>A	uc022btm.1	-	0	1067	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	RAI2_uc004cyf.3_Missense_Mutation_p.P356L|RAI2_uc004cyg.3_Missense_Mutation_p.P356L|RAI2_uc011miy.2_Missense_Mutation_p.P306L|RAI2_uc022btl.1_Missense_Mutation_p.P356L|RAI2_uc004cyh.4_Missense_Mutation_p.P356L|RAI2_uc010nfa.3_Missense_Mutation_p.P356L	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	356					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGTCTCAGGGGGAGGCTCGGA	0.562000														4			47		0	0	0.003214	0	0
CHL1	10752	broad.mit.edu	37	3	447381	447382	+	Missense_Mutation	DNP	CC	TT	TT	rs150211430		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:447381_447382CC>TT	uc003bot.3	+	27	4304_4305	c.3662_3663CC>TT	c.(3661-3663)ccc>cTT	p.P1221L	CHL1_uc003bou.3_Missense_Mutation_p.P1205L|CHL1_uc011asi.2_Missense_Mutation_p.P1168L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1205					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCAACTTTTCCCCTTCGGGCAT	0.421000														17			29		0	0	0.004672	0	0
CDCA7L	55536	broad.mit.edu	37	7	21948053	21948053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21948053C>T	uc010kuk.3	-	3	496	c.376G>A	c.(376-378)Gat>Aat	p.D126N	CDCA7L_uc003sve.4_Missense_Mutation_p.D92N|CDCA7L_uc010kul.3_Missense_Mutation_p.D80N|CDCA7L_uc003svf.4_Missense_Mutation_p.D125N	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	126					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.D126Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTAGCCTTATCTTCTTCTTCA	0.438000														48			39		0	0	0.004878	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:136566094C>T	uc002tuu.1	-	7	3834	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTG	0.502000														110			97		0	0	0.003610	0	0
IL18R1	8809	broad.mit.edu	37	2	103013101	103013101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:103013101C>T	uc002tbw.4	+	10	1531	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y	IL18R1_uc010ywd.2_Missense_Mutation_p.H305Y|IL18R1_uc010fiy.3_Missense_Mutation_p.H461Y|IL18R1_uc010ywc.2_Missense_Mutation_p.H460Y	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	461	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAGTGGACTCCATGAAGCATT	0.343000														26			29		0	0	0.005443	0	0
CELSR3	1951	broad.mit.edu	37	3	48669784	48669784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:48669784G>A	uc003cuf.1	-	40	10694	c.10694C>T	c.(10693-10695)tCc>tTc	p.S3565F	CELSR3_uc003cug.3_Missense_Mutation_p.S139F|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Missense_Mutation_p.S11F|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Missense_Mutation_p.S160F|CELSR3_uc003cui.3_Missense_Mutation_p.S160F|CELSR3_uc003cuj.3_Missense_Mutation_p.S160F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGGCCAGGGATTCTGTCAC	0.607000														1			15		0	0	0.002450	0	0
POTEE	445582	broad.mit.edu	37	2	132021420	132021420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:132021420C>T	uc002tsn.2	+	14	2444	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.P398S|POTEE_uc002tsl.2_Missense_Mutation_p.P380S|POTEE_uc010fmy.1_Missense_Mutation_p.P262S	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	798	Actin-like.						ATP binding										GCGTGTGGCTCCCGAGGAGCA	0.587000														163			76		0	0	0.003610	0	0
IL3	3562	broad.mit.edu	37	5	131396672	131396672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:131396672C>T	uc003kwe.1	+	1	228	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	59					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CTTCAACAACCTCAATGGGGA	0.552000														4			48		0	0	0.003610	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965356	7965356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7965356G>A	uc002mir.3	+	2	2050	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	650						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GAGCACGTGCGGAAGCTCAGG	0.627000														16			5		0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866371	131866371	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131866371C>T	uc003vra.4	-	17	3490	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1087	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTTCAGAACCTCACAGATCT	0.597000														44			15		0	0	0.004007	0	0
RLTPR	146206	broad.mit.edu	37	16	67690334	67690334	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:67690334C>T	uc002etn.3	+	34	3942	c.3822C>T	c.(3820-3822)tcC>tcT	p.S1274S	RLTPR_uc010vjr.2_Silent_p.S1238S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1274										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGACCCTTCCTGCAGACCTG	0.617000														19			11		0	0	0.008291	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655756	138655757	+	Missense_Mutation	DNP	TG	AC	AC			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:138655756_138655757TG>AC	uc003qhu.3	+	32	5944_5945	c.5773_5774TG>AC	c.(5773-5775)tgt>ACt	p.C1925T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1925					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGGAGAACTGTATGGAGGAG	0.564000														23			15		0	0	0.004672	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771133	145771133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:145771133G>A	uc003zds.1	-	6	2576	c.2021C>T	c.(2020-2022)cCc>cTc	p.P674L	ARHGAP39_uc011llk.1_Missense_Mutation_p.P674L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P674L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	674					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGAGCTGGGAACGCCGCT	0.642000														17			13		0	0	0.002450	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872309	51872309	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:51872309A>T	uc002xwo.3	+	1	3199	c.2312A>T	c.(2311-2313)aAa>aTa	p.K771I	TSHZ2_uc021wex.1_Missense_Mutation_p.K768I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	771					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)			ACCAAGTCCAAAAGCAAGAAA	0.552000														53			55		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124401217	124401217	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:124401217A>C	uc001uft.4	+	61	10607	c.10582A>C	c.(10582-10584)Acc>Ccc	p.T3528P		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3528	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTACCTGAACACCAAGCTGGC	0.423000														5			30		0	0	0.006320	0	0
ZNF841	284371	broad.mit.edu	37	19	52570755	52570755	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:52570755T>C	uc010ydh.1	-	6	840	c.380A>G	c.(379-381)gAa>gGa	p.E127G	ZNF841_uc002pyl.1_Missense_Mutation_p.E11G	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTAAAAATTTTCAGTGTCATA	0.368000														2			6		0	0	0.001984	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428739	142428739	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142428739G>A	uc011ksk.1	+	1	116	c.99G>A	c.(97-99)agG>agA	p.R33R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		TAGTCAAAAGGACGGGAGAGA	0.473000														44			20		0	0	0.007413	0	0
PRSS1	5644	broad.mit.edu	37	7	142458528	142458528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142458528G>A	uc003wak.2	+	1	180	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.R30Q|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	55	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCATCAACGAACAGTGGGT	0.572000														136			62		0	0	0.003610	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706538	33706538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:33706538G>A	uc010dmy.3	-	1	723	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	145						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTGGGCAAAGAGCTTTTCGC	0.473000														24			34		0	0	0.002096	0	0
NBEAP1	606	broad.mit.edu	37	15	20874840	20874840	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20874840A>C	uc010tze.1	-	2	505	c.298T>G	c.(298-300)Tat>Gat	p.Y100D	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		CAGGATTAATAACCCAGTAGT	0.353000														89			18		0	0	0.008871	0	0
EXOC7	23265	broad.mit.edu	37	17	74081767	74081767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:74081767G>A	uc002jqs.3	-	14	1855	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Missense_Mutation_p.S461F|EXOC7_uc010wsv.2_Missense_Mutation_p.S508F|EXOC7_uc010wsw.2_Missense_Mutation_p.S559F|EXOC7_uc002jqq.3_Missense_Mutation_p.S536F|EXOC7_uc010wsx.2_Missense_Mutation_p.S528F|EXOC7_uc002jqr.3_Missense_Mutation_p.S505F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	587					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTCTCCAGGGACTTGAGGAT	0.587000														65			63		0	0	0.003610	0	0
CDKL2	8999	broad.mit.edu	37	4	76529088	76529088	+	Silent	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:76529088A>C	uc011cbp.2	-	5	1233	c.708T>G	c.(706-708)gcT>gcG	p.A236A	CDKL2_uc003hiq.3_Silent_p.A236A|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	236	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCTTACTCCAGCAAACACAG	0.368000														58			24		0	0	0.002299	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626444	80626444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:80626444G>A	uc003pja.4	-	5	1145	c.826C>T	c.(826-828)Cca>Tca	p.P276S	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	276					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.P276P(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CCAGCTTTTGGTTTCTTAGGC	0.378000														6			56		0	0	0.003610	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282495	52282495	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:52282495G>T	uc001rzd.3	+	1	467	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	ANKRD33_uc001rzh.4_Missense_Mutation_p.G97W|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTGCAGGCTGGGGGCCCTGTA	0.642000														837			9		0.00448238	0.00567445	0.004482	1	0
DSP	1832	broad.mit.edu	37	6	7584183	7584183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:7584183C>T	uc003mxp.1	+	23	6967	c.6688C>T	c.(6688-6690)Ccg>Tcg	p.P2230S	DSP_uc003mxq.1_Missense_Mutation_p.P1631S|DSP_uc021yle.1_Missense_Mutation_p.P1787S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2230	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATATTGAGACCGTCCACTGT	0.463000														39			72		0	0	0.003610	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080695	79080695	+	Silent	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:79080695T>G	uc002bej.4	-	7	1411	c.1200A>C	c.(1198-1200)ggA>ggC	p.G400G	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.G400G	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CATTGCCGCTTCCGTCATGCT	0.652000														81			71		0	0	0.003610	0	0
ARID5A	10865	broad.mit.edu	37	2	97217463	97217463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:97217463C>T	uc002swe.3	+	6	1298	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	ARID5A_uc010yuq.2_Missense_Mutation_p.H348Y|ARID5A_uc002swf.3_Missense_Mutation_p.H236Y|ARID5A_uc002swg.3_Missense_Mutation_p.H348Y	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	400					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TTCTGCGTTCCATAAAGGTGG	0.632000														25			21		0	0	0.002299	0	0
ABCB11	8647	broad.mit.edu	37	2	169828445	169828445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:169828445C>T	uc002ueo.1	-	13	1676	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_5'UTR	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	517	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCTGCCATAGCGAATATTTTC	0.478000														61			61		0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646022	51646022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:51646022G>A	uc002pvv.1	+	0	465	c.396G>A	c.(394-396)tgG>tgA	p.W132*	SIGLEC7_uc002pvw.1_Nonsense_Mutation_p.W132*|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Nonsense_Mutation_p.W132*	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	132					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATATAAAATGGAATTATAAAT	0.478000														38			17		0	0	0.006122	0	0
PLXNA4	91584	broad.mit.edu	37	7	131829942	131829942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131829942C>T	uc003vra.4	-	28	5390	c.5161G>A	c.(5161-5163)Gat>Aat	p.D1721N	PLXNA4_uc003vqz.4_Missense_Mutation_p.D6N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1721						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCTGCTCATCCAGGAAGTCA	0.562000														83			43		0	0	0.003610	0	0
POLD1	5424	broad.mit.edu	37	19	50905516	50905516	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50905516C>G	uc010eny.3	+	4	645	c.644C>G	c.(643-645)gCg>gGg	p.A215G	POLD1_uc002psb.4_Missense_Mutation_p.A215G|POLD1_uc002psc.4_Missense_Mutation_p.A215G|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	215					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ATCACCGTGGCGCTGCCGCGC	0.706000								DNA polymerases (catalytic subunits)						18			36		0	0	0.004289	0	0
BNC1	646	broad.mit.edu	37	15	83926808	83926808	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:83926808A>T	uc002bjt.1	-	4	2459	c.2371T>A	c.(2371-2373)Ttc>Atc	p.F791I	BNC1_uc010uos.1_Missense_Mutation_p.F779I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	791					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGCACGGAAATGATCTTCA	0.448000														58			64		0	0	0.003610	0	0
DSC2	1824	broad.mit.edu	37	18	28660129	28660129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:28660129C>T	uc002kwl.4	-	9	1907	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DSC2_uc002kwk.4_Missense_Mutation_p.E485K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	485	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTTCCCACTTCTGCATTTTCT	0.393000														68			29		0	0	0.002096	0	0
HUNK	30811	broad.mit.edu	37	21	33318448	33318448	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:33318448G>A	uc002yph.3	+	3	1071	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	237	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCTCGCCAGGAAGAAATACG	0.532000														45			51		0	0	0.003610	0	0
DLG2	1740	broad.mit.edu	37	11	83676394	83676394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:83676394G>A	uc001paj.2	-	7	1162	c.859C>T	c.(859-861)Cct>Tct	p.P287S	DLG2_uc001pai.2_Missense_Mutation_p.P236S|DLG2_uc010rsy.1_Missense_Mutation_p.P254S|DLG2_uc021qof.1_Missense_Mutation_p.P326S|DLG2_uc010rsz.1_Missense_Mutation_p.P287S|DLG2_uc010rta.1_Missense_Mutation_p.P287S|DLG2_uc001pak.2_Missense_Mutation_p.P392S|DLG2_uc010rtb.1_Missense_Mutation_p.P254S|DLG2_uc001pal.1_Missense_Mutation_p.P287S|DLG2_uc001pam.2_Missense_Mutation_p.P326S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	287						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGACCATAAGGATCAGTCATA	0.368000														6			36		0	0	0.004878	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825991	40825991	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:40825991T>C	uc002iau.2	-	2	726	c.259A>G	c.(259-261)Aaa>Gaa	p.K87E	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.K87E	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	87					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGCAGCCCTTTCTCCGGGATG	0.622000														12			23		0	0	0.004656	0	0
OR4A15	81328	broad.mit.edu	37	11	55136129	55136129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55136129G>A	uc010rif.2	+	0	770	c.770G>A	c.(769-771)aGt>aAt	p.S257N		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q256K(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGACTCAGAGTTTGGAAGGG	0.443000														78			22		0	0	0.001882	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461793	85461793	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:85461793C>T	uc002blg.3	+	9	1036	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SLC28A1_uc010upd.1_Silent_p.S200S|SLC28A1_uc010bnb.3_Silent_p.S278S|SLC28A1_uc010upe.2_Silent_p.S278S|SLC28A1_uc010upf.1_Silent_p.S278S|SLC28A1_uc010upg.1_Silent_p.S278S	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	278					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGTCATATCCGTTCTCTACC	0.577000														115			80		0	0	0.003610	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:51411637G>A	uc001nhi.2	-	0	812	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000														29			17		0	0	0.004007	0	0
GPX5	2880	broad.mit.edu	37	6	28493858	28493858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:28493858C>T	uc003nll.2	+	0	70	c.68C>T	c.(67-69)cCc>cTc	p.P23L	GPX5_uc003nlm.2_Missense_Mutation_p.P23L|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	23					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CAAACAAGTCCCAAGCAGGAG	0.502000														189			80		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3239210	3239210	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:3239210T>A	uc004crg.4	-	4	4673	c.4516A>T	c.(4516-4518)Acc>Tcc	p.T1506S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1506						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)				GTGGTGGTGGTTTGTCCCAAA	0.473000														6			61		0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240371023	240371023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240371023C>T	uc010pye.2	+	5	3148	c.2923C>T	c.(2923-2925)Ccc>Tcc	p.P975S	FMN2_uc010pyd.2_Missense_Mutation_p.P971S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	971	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)			TCCCCCTCTTCCCGGAGCAGG	0.706000														17			12		0	0	0.000978	0	0
FLT3	2322	broad.mit.edu	37	13	28609648	28609648	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:28609648G>A	uc001urw.3	-	11	1663	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.I527I	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	527					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.T526T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTTAAAAGGATCGTCTCAC	0.453000			"""Mis, O"""		"""AML, ALL"""									79			17		0	0	0.002299	0	0
HYDIN	54768	broad.mit.edu	37	16	71015379	71015379	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:71015379G>A	uc002ezr.3	-	28	4573	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1475										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGGCGATCTGTATCT	0.478000														65			78		0	0	0.003610	0	0
OR5B3	441608	broad.mit.edu	37	11	58170430	58170430	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:58170430G>A	uc010rkf.2	-	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGCATTCAGGAAACCACAGA	0.478000														53			18		0	0	0.008871	0	0
AIP	9049	broad.mit.edu	37	11	67256900	67256900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:67256900C>T	uc001olv.3	+	2	567	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F		NM_003977	NP_003968	O00170	AIP_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA.	148					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CCCCCAGCCCCTCATCTTCCA	0.682000									Familial Isolated Pituitary Adenoma					56			16		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179404420	179404420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179404420C>T	uc021vsy.1	-	300	90893	c.90668G>A	c.(90667-90669)aGg>aAg	p.R30223K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R23918K|TTN_uc021vta.1_Missense_Mutation_p.R23851K|TTN_uc021vtb.1_Missense_Mutation_p.R23726K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31150	Fibronectin type-III 120.						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)			TCCTATCACCCTGACCTTGAT	0.498000														68			57		0	0	0.003610	0	0
QTRTD1	79691	broad.mit.edu	37	3	113786847	113786847	+	Silent	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:113786847A>C	uc003eaz.3	+	3	392	c.306A>C	c.(304-306)tcA>tcC	p.S102S	QTRTD1_uc003eay.3_Silent_p.S90S|QTRTD1_uc011biq.2_Intron|QTRTD1_uc011bir.2_Intron|QTRTD1_uc003eba.3_Intron	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	90					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGCCAGAATCACTCTTGTACT	0.473000														66			21		0	0	0.002299	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108180	95108180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:95108180G>A	uc001ydt.3	+	1	785	c.697G>A	c.(697-699)Gag>Aag	p.E233K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CGGGGCCTGGGAGAAGGACCT	0.582000														123			84		0	0	0.003610	0	0
KCNA6	3742	broad.mit.edu	37	12	4919936	4919936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:4919936G>A	uc001qng.3	+	0	1595	c.729G>A	c.(727-729)atG>atA	p.M243I	KCNA6_uc021qtr.1_Missense_Mutation_p.M243I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGGGAAATGGGGACCGGGG	0.547000										HNSCC(72;0.22)				94			42		0	0	0.003610	0	0
OR1S2	219958	broad.mit.edu	37	11	57971343	57971343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:57971343G>A	uc010rkb.2	-	0	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ATAAGAGATGGATTGGCTGTT	0.438000														36			94		0	0	0.003610	0	0
RXFP1	59350	broad.mit.edu	37	4	159493978	159493978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:159493978G>A	uc003ipz.3	+	1	441	c.178G>A	c.(178-180)Gac>Aac	p.D60N	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.D60N|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.D60N|RXFP1_uc010iqm.3_Missense_Mutation_p.D60N|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	60	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGCCGATGAGGACAACTGTGG	0.527000														27			14		0	0	0.003163	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390573	61390573	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:61390573C>T	uc002ljk.4	+	8	1287	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SERPINB11_uc010xes.2_Silent_p.F198F|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.F259F|SERPINB11_uc010dqe.3_Silent_p.F172F|SERPINB11_uc010dqf.3_Silent_p.F171F	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	373					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCTTCCTTTTCTTTATAAGGC	0.527000														11			70		0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634890	70634890	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:70634890G>A	uc001xly.3	-	1	1004	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	SLC8A3_uc001xlw.3_Silent_p.L84L|SLC8A3_uc001xlx.3_Silent_p.L84L|SLC8A3_uc001xlz.3_Silent_p.L84L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	84					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGTATATCAGGGCCACAAAA	0.502000														25			20		0	0	0.007413	0	0
KLHL20	27252	broad.mit.edu	37	1	173703375	173703375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:173703375C>T	uc001gjc.3	+	2	726	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.R165C|KLHL20_uc001gjd.3_Missense_Mutation_p.R183C	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	183	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTCATGTCGTGAGTTGCT	0.448000														47			53		0	0	0.003610	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717495	222717495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:222717495C>T	uc001hnh.1	-	1	416	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	120					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGGTGTTTTCGGCGTCGTAG	0.567000														285			224		0	0	0.003610	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:151114356C>T	uc003ilo.4	+	2	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R275C|DCLK2_uc003iln.4_Missense_Mutation_p.R275C	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000														42			27		0	0	0.002445	0	0
AASS	10157	broad.mit.edu	37	7	121755150	121755150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:121755150C>T	uc003vka.3	-	7	1117	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.G341S|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	341	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCAGGGCAGCCTTCCACACCA	0.483000														78			41		0	0	0.007835	0	0
PSG4	5672	broad.mit.edu	37	19	43414736	43414736	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43414736G>A	uc002ovj.1	-	2	801	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.L234L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	235	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACTCACGGAGGAGATTCAGGG	0.517000														160			52		0	0	0.003610	0	0
TLE2	7089	broad.mit.edu	37	19	3005503	3005503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3005503C>T	uc010dth.3	-	16	2094	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	TLE2_uc010xhb.2_Missense_Mutation_p.D277N|TLE2_uc002lww.3_Missense_Mutation_p.D610N|TLE2_uc010xhc.2_Missense_Mutation_p.D488N|TLE2_uc010dti.3_Missense_Mutation_p.D624N	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	610					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ACCGTGTTGTCCAGGCCCCCT	0.657000														9			11		0	0	0.001368	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831426	131831426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131831426C>T	uc003vra.4	-	27	5127	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1633						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGCGGAGGCTGTCGGGGCT	0.577000														252			88		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140739802	140739802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140739802C>T	uc003ljs.2	+	0	100	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.R34C	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	32	Cadherin 1.				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)			AGTCCAGATCCGCTATTCAAT	0.612000											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			15		0	0	0.002450	0	0
MARCH9	92979	broad.mit.edu	37	12	58152541	58152541	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:58152541C>A	uc001spx.2	+	3	1333	c.902C>A	c.(901-903)gCt>gAt	p.A301D	MARCH9_uc001spy.3_Missense_Mutation_p.A188D	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	301						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGCCCCCCAGCTGCCCAGCGC	0.667000														7			6		0.00116845	0.00148097	0.001168	1	0
ANXA6	309	broad.mit.edu	37	5	150502500	150502500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:150502500G>A	uc003ltl.2	-	15	1439	c.1211C>T	c.(1210-1212)aCc>aTc	p.T404I	ANXA6_uc011dcp.2_Missense_Mutation_p.T372I|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	404						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACTTGAAGGTCTGCCGGAT	0.562000														2			40		0	0	0.007835	0	0
NDST4	64579	broad.mit.edu	37	4	115769380	115769380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:115769380C>T	uc003ibu.3	-	8	2610	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	644	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCAGTCTATTCCTTTGTGATA	0.333000														28			21		0	0	0.003330	0	0
OR51I1	390063	broad.mit.edu	37	11	5462079	5462079	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5462079C>T	uc010qze.2	-	0	705	c.666G>A	c.(664-666)ttG>ttA	p.L222L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCAGGATCAATGCGTAGG	0.468000														27			9		0	0	0.004482	0	0
APOC3	345	broad.mit.edu	37	11	116703480	116703480	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:116703480G>A	uc001ppt.1	+	4	226	c.180_splice	c.e4-1	p.R60_splice		NM_000040	NP_000031	P02656	APOC3_HUMAN	Homo sapiens apolipoprotein C-III (APOC3), mRNA.	60					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTGATTTAGGGGCTGGGTGA	0.552000														24			83		0	0	0.003610	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296616	39296616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:39296616C>T	uc010cxk.2	-	0	124	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	42	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCTGGACACACAGCAGCTG	0.677000														73			6		0	0	0.003080	0	0
CPD	1362	broad.mit.edu	37	17	28776659	28776659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:28776659C>T	uc002hfb.2	+	12	3019	c.2962C>T	c.(2962-2964)Cgt>Tgt	p.R988C	CPD_uc010wbo.2_Missense_Mutation_p.R741C|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	988	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.R988C(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACCAAAGATTCGTTTTGTTGC	0.438000														112			32		0	0	0.002096	0	0
ARID1A	8289	broad.mit.edu	37	1	27056144	27056144	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:27056144A>G	uc001bmv.1	+	1	1513	c.1140A>G	c.(1138-1140)ccA>ccG	p.P380P	ARID1A_uc001bmt.1_Silent_p.P380P|ARID1A_uc001bmu.1_Silent_p.P380P|ARID1A_uc001bmw.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	380					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTTTGTAGCCATCCAGTCCAA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									6			57		0	0	0.003610	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580624	53580624	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:53580624G>A	uc021onn.1	-	2	405	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Silent_p.S79S|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.S79S|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	79						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TGGCATCCAGGGAGGCAAGTC	0.652000														0			19		0	0	0.001523	0	0
OR4C13	283092	broad.mit.edu	37	11	49974029	49974029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:49974029C>T	uc010rhz.2	+	0	87	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACAGAGAATCCAAAAATGCA	0.363000														53			22		0	0	0.001882	0	0
MYH13	8735	broad.mit.edu	37	17	10267773	10267773	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10267773G>A	uc002gmk.1	-	2	165	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	25	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGAGCCTCGATTCTCTCCT	0.478000														8			19		0	0	0.007413	0	0
KCNK9	51305	broad.mit.edu	37	8	140630827	140630827	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:140630827T>A	uc003yvf.1	-	1	863	c.799A>T	c.(799-801)Aac>Tac	p.N267Y	KCNK9_uc003yvg.1_Missense_Mutation_p.N267Y|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	267						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTGTTGCGGTTTCCGGCGAGG	0.632000														25			38		0	0	0.002222	0	0
LNX2	222484	broad.mit.edu	37	13	28136654	28136654	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:28136654A>G	uc001url.4	-	4	1429	c.1120T>C	c.(1120-1122)Ttg>Ctg	p.L374L	LNX2_uc001urm.1_Silent_p.L374L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	374	PDZ 2.						zinc ion binding	p.L374fs*8(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TGGGCAGCCAACCCCCCTTCC	0.537000														178			33		0	0	0.005524	0	0
DNAH5	1767	broad.mit.edu	37	5	13771068	13771068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13771068G>A	uc003jfd.2	-	55	9437	c.9395C>T	c.(9394-9396)tCc>tTc	p.S3132F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3132	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATATCATAGGAAGTGAGGAA	0.388000									Kartagener syndrome					29			42		0	0	0.006999	0	0
HSPA8	3312	broad.mit.edu	37	11	122931912	122931912	+	Missense_Mutation	SNP	A	G	G	rs75739900		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:122931912A>G	uc001pyo.3	-	1	256	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.Y41H|HSPA8_uc010rzu.2_Missense_Mutation_p.Y41H|HSPA8_uc009zbd.2_Missense_Mutation_p.Y41H|HSPA8_uc010rzv.1_Missense_Mutation_p.Y41H	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	41					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.S40S(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGCGACATAGCTTGGAGTG	0.463000														26			4		0	0	0.000248	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883255	131883255	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131883255G>A	uc003vra.4	-	12	2956	c.2727C>T	c.(2725-2727)atC>atT	p.I909I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	909	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTGCAGGGATGTAACCAT	0.547000														81			42		0	0	0.003214	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922161	78922161	+	Silent	SNP	G	A	A	rs80249872		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:78922161G>A	uc002bed.1	-	4	598	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	162					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCTGCTGGTCGAAGGGAAAGT	0.552000														37			35		0	0	0.002836	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589536	67589537	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:67589536_67589537GG>AA	uc003jva.3	+	11	1880	c.1300_splice	c.e11-1	p.D434_splice	PIK3R1_uc003jvc.3_Splice_Site_p.D134_splice|PIK3R1_uc003jvd.3_Splice_Site_p.D164_splice|PIK3R1_uc003jve.3_Splice_Site_p.D113_splice|PIK3R1_uc021xzn.1_Splice_Site_p.D71_splice|PIK3R1_uc011crb.2_Splice_Site_p.D104_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	434					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATCTTTCTAGGATCAAGTTGT	0.252000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				6			18		0	0	0.004672	0	0
KCNH5	27133	broad.mit.edu	37	14	63174859	63174859	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:63174859G>A	uc001xfx.3	-	10	2385	c.2334C>T	c.(2332-2334)aaC>aaT	p.N778N	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	778					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGCATCACGGTTGTTCTGCT	0.493000														51			38		0	0	0.006999	0	0
abParts	0	broad.mit.edu	37	14	106641740	106641740	+	RNA	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106641740C>T	uc021ser.1	-	1493		c.29645G>A								Parts of antibodies, mostly variable regions.																		GTCCAGGGGCCTGTCGCACCC	0.547000														139			96		0	0	0.003610	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094558	26094558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:26094558G>A	uc002wvj.4	-	0	120	c.65C>T	c.(64-66)cCt>cTt	p.P22L						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		TACAGAGTGAGGAGGATAATG	0.413000														16			5		0	0	0.001984	0	0
RP1	6101	broad.mit.edu	37	8	55537822	55537822	+	Silent	SNP	G	A	A	rs143494598	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:55537822G>A	uc003xsd.1	+	3	1528	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	460					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGACAAAAGAAATCTGTGA	0.418000														26			31		0	0	0.001786	0	0
FLNC	2318	broad.mit.edu	37	7	128483367	128483367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:128483367C>T	uc003vnz.4	+	16	2844	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	FLNC_uc003voa.4_Missense_Mutation_p.R879C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	879					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGGCTGAATCGCACAGGTGA	0.647000														15			11		0	0	0.001855	0	0
TRPC4	7223	broad.mit.edu	37	13	38225438	38225438	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:38225438C>T	uc010abx.3	-	7	2278	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	TRPC4_uc010abv.3_Silent_p.K261K|TRPC4_uc001uwt.3_Silent_p.K681K|TRPC4_uc001uws.3_Silent_p.K681K|TRPC4_uc010tey.2_Silent_p.K681K|TRPC4_uc010abw.3_Silent_p.K508K|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	681	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.K681T(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCTTCTCATCTTTTTCTTGC	0.388000														25			51		0	0	0.003610	0	0
PTX4	390667	broad.mit.edu	37	16	1536423	1536423	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:1536423G>A	uc010uvf.2	-	2	939	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	318	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CATTGTCCTCGGTGGCGTAGG	0.672000														45			48		0	0	0.003610	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631784	156631784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:156631784G>A	uc003iov.3	+	6	1003	c.467G>A	c.(466-468)gGa>gAa	p.G156E	GUCY1A3_uc003iou.2_Missense_Mutation_p.G156E|GUCY1A3_uc010iqc.2_Missense_Mutation_p.G156E|GUCY1A3_uc010iqd.3_Missense_Mutation_p.G155E|GUCY1A3_uc003iow.3_Missense_Mutation_p.G156E|GUCY1A3_uc003iox.3_Missense_Mutation_p.G156E|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.G156E|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.G156E	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	156				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGGGTGGTTGGAGGCACCCTT	0.448000														26			22		0	0	0.004656	0	0
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:30980647G>A	uc003aij.2	-	4	533	c.426C>T	c.(424-426)ttC>ttT	p.F142F	PES1_uc003aik.2_Silent_p.F142F|PES1_uc003aio.1_Silent_p.F3F|PES1_uc003ain.1_Silent_p.F3F	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	142	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGAAAACAGGAAGCACATGG	0.607000														22			19		0	0	0.001523	0	0
MUC3A	4584	broad.mit.edu	37	7	100552951	100552951	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100552951C>T	uc003uxl.1	+	1	2096	c.1296C>T	c.(1294-1296)cgC>cgT	p.R432R	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTGGGGACCGCTGTCAGCTCC	0.562000														130			13		0	0	0.003954	0	0
OR6K3	391114	broad.mit.edu	37	1	158687796	158687796	+	Missense_Mutation	SNP	A	T	T	rs138237790		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158687796A>T	uc021pbn.1	-	0	110	c.110T>A	c.(109-111)tTt>tAt	p.F37Y		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	53					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)					AATGATAATAAAAGTATAGAT	0.368000														93			61		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:43826148C>T	uc010skx.2	-	20	3055	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E173K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E173K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000														38			17		0	0	0.004990	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756405	94756405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94756405C>T	uc001yct.3	-	1	992	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SERPINA10_uc001ycu.4_Missense_Mutation_p.E176K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	176					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAGTCTCTTTGACATCA	0.453000														65			48		0	0	0.003610	0	0
EN1	2019	broad.mit.edu	37	2	119604516	119604516	+	Silent	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:119604516T>G	uc002tlm.3	-	0	1244	c.228A>C	c.(226-228)ccA>ccC	p.P76P		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	76					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						gcggggggtgtggggggaggt	0.751000														7			4		0	0	0.000602	0	0
CETP	1071	broad.mit.edu	37	16	57016084	57016084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:57016084C>T	uc002eki.2	+	13	1313	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CETP_uc002ekj.2_Missense_Mutation_p.S359F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	419					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGAGCAGCTCCGAGTCCGTC	0.582000														62			49		0	0	0.003610	0	0
OR5H14	403273	broad.mit.edu	37	3	97869076	97869076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:97869076C>T	uc003dsg.1	+	0	847	c.847C>T	c.(847-849)Cct>Tct	p.P283S		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V282V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCATAGTTCCTTTATTAAA	0.373000														18			18		0	0	0.006122	0	0
DNAH11	8701	broad.mit.edu	37	7	21781628	21781628	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21781628C>T	uc003svc.3	+	49	8050	c.8019C>T	c.(8017-8019)ttC>ttT	p.F2673F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2673	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTCCATTTCCAACAGCAAG	0.398000									Kartagener syndrome					113			58		0	0	0.003610	0	0
ADAM23	8745	broad.mit.edu	37	2	207437857	207437857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:207437857G>A	uc002vbq.3	+	17	1898	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	559	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACGAGGGTATGAATGCCGGGA	0.368000														94			68		0	0	0.003610	0	0
MYO1G	64005	broad.mit.edu	37	7	45015141	45015141	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:45015141T>C	uc003tmh.2	-	3	650	c.506A>G	c.(505-507)aAc>aGc	p.N169S	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.N54S|MYO1G_uc003tmi.1_Missense_Mutation_p.N81S|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	169	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAAGTCAAAGTTGATGTCCAT	0.592000														32			25		0	0	0.003954	0	0
OR4N5	390437	broad.mit.edu	37	14	20612583	20612583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20612583C>T	uc010tla.2	+	0	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S229S(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAGCACTCCTCTGAAGGAAAG	0.493000														67			65		0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100231927	100231927	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:100231927C>T	uc003hus.4	-	7	1182	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	ADH1B_uc003hut.4_Silent_p.G326G|ADH1B_uc011ceh.2_Silent_p.G211G|ADH1B_uc011cei.1_Silent_p.G326G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	366					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTACCTTTTCCCAGAGTGAA	0.338000														40			13		0	0	0.001855	0	0
ZNF831	128611	broad.mit.edu	37	20	57768483	57768483	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:57768483G>A	uc002yan.3	+	0	2409	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	803						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTGGGCCCAGACTGTCCTGA	0.632000														29			35		0	0	0.005524	0	0
LPO	4025	broad.mit.edu	37	17	56345253	56345253	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:56345253C>T	uc002ivt.3	+	12	2353	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	LPO_uc010wns.2_Silent_p.V620V|LPO_uc010dcp.3_Silent_p.V596V|LPO_uc010dcq.3_Silent_p.V350V|LPO_uc010dcr.3_Silent_p.V242V	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	679					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCACCAAGGTCCCACGGGACC	0.552000														64			45		0	0	0.003610	0	0
TKTL2	84076	broad.mit.edu	37	4	164393850	164393850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164393850G>A	uc003iqp.4	-	0	1198	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	346						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGTTCATCGTGTCACCACT	0.423000														28			28		0	0	0.006320	0	0
RNF17	56163	broad.mit.edu	37	13	25353881	25353881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:25353881G>A	uc001upr.3	+	4	547	c.506G>A	c.(505-507)gGa>gAa	p.G169E	RNF17_uc010tdd.1_Missense_Mutation_p.G28E|RNF17_uc010tde.2_Missense_Mutation_p.G169E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G108E|RNF17_uc001upq.1_Missense_Mutation_p.G169E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	169					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCATTGCTGGAAAAGTAAGC	0.383000														45			16		0	0	0.006122	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														131			75		0	0	0.003610	0	0
ZNF560	147741	broad.mit.edu	37	19	9577336	9577336	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9577336T>A	uc002mlp.1	-	9	2497	c.2287A>T	c.(2287-2289)Atg>Ttg	p.M763L	ZNF560_uc010dwr.1_Missense_Mutation_p.M657L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H762L(1)|p.H762D(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCTCTCCCATATGAGTTCTT	0.443000														26			40		0	0	0.005524	0	0
GLP1R	2740	broad.mit.edu	37	6	39053729	39053729	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:39053729C>T	uc003ooj.4	+	12	1332	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	424					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGCTTGAGCACTTGCACATCC	0.577000														206			77		0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128487776	128487776	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:128487776G>A	uc003vnz.4	+	24	4523	c.4314G>A	c.(4312-4314)aaG>aaA	p.K1438K	FLNC_uc003voa.4_Silent_p.K1438K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1438					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCAGTGAAGGATGTGGTGG	0.637000														140			53		0	0	0.003610	0	0
ITFG1	81533	broad.mit.edu	37	16	47485329	47485329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:47485329G>A	uc002eet.3	-	4	597	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	ITFG1_uc010vgh.2_Nonsense_Mutation_p.Q67*|ITFG1_uc010cbf.1_Nonsense_Mutation_p.Q67*	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	180						extracellular region|integral to membrane		p.N179N(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCTGTGGCTGGTTGGATTCA	0.289000														35			21		0	0	0.003954	0	0
PCDH15	65217	broad.mit.edu	37	10	55849750	55849750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:55849750G>A	uc010qhy.1	-	16	2401	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L	PCDH15_uc010qhq.2_Missense_Mutation_p.S669L|PCDH15_uc010qhr.2_Missense_Mutation_p.S664L|PCDH15_uc021pqv.1_Missense_Mutation_p.S664L|PCDH15_uc021pqw.1_Missense_Mutation_p.S676L|PCDH15_uc010qht.2_Missense_Mutation_p.S671L|PCDH15_uc021pqx.1_Missense_Mutation_p.S664L|PCDH15_uc001jjv.1_Missense_Mutation_p.S642L|PCDH15_uc021pqy.1_Missense_Mutation_p.S664L|PCDH15_uc021pqz.1_Missense_Mutation_p.S642L|PCDH15_uc010qhv.1_Missense_Mutation_p.S664L|PCDH15_uc010qhw.1_Missense_Mutation_p.S627L|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Missense_Mutation_p.S664L|PCDH15_uc010qia.1_Missense_Mutation_p.S642L|PCDH15_uc001jju.1_Missense_Mutation_p.S664L|PCDH15_uc010qib.1_Missense_Mutation_p.S642L|PCDH15_uc001jjw.3_Missense_Mutation_p.S664L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	664	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G668R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACGTTTCTGAAAGATTAAA	0.348000										HNSCC(58;0.16)				4			24		0	0	0.003330	0	0
GLI2	2736	broad.mit.edu	37	2	121726459	121726459	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:121726459T>C	uc010flp.3	+	4	843	c.813T>C	c.(811-813)ggT>ggC	p.G271G	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.F142L|GLI2_uc010flo.1_Silent_p.G146G|GLI2_uc002tmw.1_Silent_p.G271G	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	271					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGCCAGCGGTTCCTACGGGC	0.667000														43			15		0	0	0.004990	0	0
CSMD1	64478	broad.mit.edu	37	8	3205659	3205659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:3205659C>T	uc022aqr.1	-	21	3719	c.3329G>A	c.(3328-3330)gGa>gAa	p.G1110E	CSMD1_uc011kwj.2_Missense_Mutation_p.G503E|CSMD1_uc003wqe.3_Missense_Mutation_p.G267E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1111	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTCATTTCCTTTGACACT	0.343000														31			6		0	0	0.001984	0	0
CIB3	117286	broad.mit.edu	37	19	16280480	16280480	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:16280480C>T	uc002nds.3	-	2	159	c.159G>A	c.(157-159)aaG>aaA	p.K53K	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	53							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGTAGGGCACCTTCACATCGG	0.552000														12			17		0	0	0.006122	0	0
EPHA4	2043	broad.mit.edu	37	2	222365881	222365881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:222365881C>T	uc002vmq.3	-	3	877	c.835G>A	c.(835-837)Gga>Aga	p.G279R	EPHA4_uc002vmr.2_Missense_Mutation_p.G279R|EPHA4_uc010zlm.1_Missense_Mutation_p.G220R	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	279	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGTAATATCCAATTTTGCAA	0.488000														45			32		0	0	0.003755	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:51025846G>A	uc002lfe.2	+	26	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_uc010dpf.2_Silent_p.P992P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000														12			79		0	0	0.003610	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196044977	196044978	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:196044977_196044978GG>AT	uc003fwi.3	-	0	188_189	c.46_47CC>AT	c.(46-48)cct>ATt	p.P16I	TM4SF19_uc003fwj.3_Intron|AK124973_uc003fwk.1_5'Flank	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	16							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTCAGCCTCAGGCACCCCGTCG	0.663000														23			6		0	0	0.004672	0	0
SCAP	22937	broad.mit.edu	37	3	47459206	47459207	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47459206_47459207GG>AA	uc003crh.1	-	16	2812_2813	c.2557_2558CC>TT	c.(2557-2559)ccc>TTc	p.P853F	SCAP_uc011baz.1_Missense_Mutation_p.P597F|SCAP_uc003crg.2_Missense_Mutation_p.P460F	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	853	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTGTCTCAGGGGAGGGCTGTCC	0.663000														2			39		0	0	0.004672	0	0
FOSL2	2355	broad.mit.edu	37	2	28635177	28635177	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:28635177C>T	uc002rma.3	+	3	1652	c.843C>T	c.(841-843)gtC>gtT	p.V281V	FOSL2_uc021vfg.1_Silent_p.V273V|FOSL2_uc010ymi.2_Silent_p.V242V	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	281					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGAACCTCGTCTTCACCTATC	0.617000														36			20		0	0	0.001523	0	0
CXorf61	203413	broad.mit.edu	37	X	115592967	115592967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:115592967C>T	uc004eqj.1	-	1	403	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	95						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AGAGTATGTTCCAGTTCAACC	0.433000														5			90		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21011761	21011761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:21011761G>A	uc010vbe.2	-	42	6206	c.6206C>T	c.(6205-6207)cCa>cTa	p.P2069L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2069	AAA 3 (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)		GAACAGCATTGGAATCTCATG	0.493000														38			40		0	0	0.006999	0	0
KIAA0319	9856	broad.mit.edu	37	6	24569076	24569076	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:24569076G>A	uc011djo.2	-	12	2573	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	KIAA0319_uc011djp.2_Silent_p.F646F|KIAA0319_uc003neh.1_Silent_p.F691F|KIAA0319_uc011djq.1_Silent_p.F682F|KIAA0319_uc011djr.1_Silent_p.F691F|KIAA0319_uc010jpt.1_Silent_p.F102F	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	691	PKD 4.				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						CTGTCAAACGGAAGTGGTAGG	0.542000														105			33		0	0	0.003271	0	0
NPY5R	4889	broad.mit.edu	37	4	164272160	164272160	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164272160A>T	uc003iqn.3	+	3	917	c.735A>T	c.(733-735)aaA>aaT	p.K245N	NPY5R_uc021xtw.1_Missense_Mutation_p.K245N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	245					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCCAACAAAGAAAACAGAC	0.388000														41			16		0	0	0.004007	0	0
CAMK2G	818	broad.mit.edu	37	10	75607051	75607051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:75607051G>A	uc001jvv.2	-	9	857	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	CAMK2G_uc001jvs.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvm.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvo.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvp.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvq.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvr.2_Nonsense_Mutation_p.Q251*|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.	251	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			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GTCAGCATCTGGTTGATCAAG	0.512000														4			38		0	0	0.005524	0	0
DYSF	8291	broad.mit.edu	37	2	71896828	71896828	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71896828C>T	uc010fen.3	+	50	5877	c.5736C>T	c.(5734-5736)ttC>ttT	p.F1912F	DYSF_uc010fei.3_Silent_p.F1890F|DYSF_uc010feh.3_Silent_p.F1880F|DYSF_uc002sig.4_Silent_p.F1859F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F1904F|DYSF_uc010fee.3_Silent_p.F1894F|DYSF_uc010fef.3_Silent_p.F1911F|DYSF_uc002sie.3_Silent_p.F1873F|DYSF_uc010feo.3_Silent_p.F1905F|DYSF_uc010fej.3_Silent_p.F1881F|DYSF_uc010fel.3_Silent_p.F1860F|DYSF_uc010fem.3_Silent_p.F1895F|DYSF_uc002sif.3_Silent_p.F1874F|DYSF_uc010fek.3_Silent_p.F1891F|DYSF_uc010yqy.2_Silent_p.F754F|DYSF_uc010yqz.2_Silent_p.F634F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1873						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGTTCATTTTCCCCTTCGACT	0.493000														74			44		0	0	0.002522	0	0
NALCN	259232	broad.mit.edu	37	13	101733929	101733929	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:101733929G>A	uc001vox.1	-	33	4023	c.3834C>T	c.(3832-3834)ctC>ctT	p.L1278L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1278						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGTCACCAGGAGATCGTATC	0.448000														27			55		0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55501975	55501975	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55501975G>A	uc021vbq.1	+	9	2754	c.2643G>A	c.(2641-2643)ggG>ggA	p.G881G	NLRP2_uc010yfp.2_Silent_p.G858G|NLRP2_uc002qij.3_Silent_p.G881G|NLRP2_uc010esp.3_Silent_p.G859G|NLRP2_uc010esn.3_Silent_p.G857G|NLRP2_uc010eso.3_Silent_p.G878G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	881					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCATTGGGAATACAGGGG	0.542000														45			14		0	0	0.004990	0	0
CLDN11	5010	broad.mit.edu	37	3	170150445	170150445	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:170150445C>T	uc003fgx.3	+	2	727	c.525C>T	c.(523-525)atC>atT	p.I175I	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Silent_p.I91I	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	175					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.V174D(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGTGTCATCCTCTGCTGCG	0.587000														103			86		0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:43815622G>A	uc001zrt.3	+	3	2418	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473000														18			11		0	0	0.001855	0	0
ACVRL1	94	broad.mit.edu	37	12	52312839	52312839	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:52312839G>A	uc001rzj.3	+	8	1600	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ACVRL1_uc001rzk.3_Silent_p.K439K|ACVRL1_uc010snm.2_Silent_p.K265K	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	439	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGGACATGAAGAAGGTGGTGT	0.577000														52			666		0	0	0.003610	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378592	31378592	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:31378592C>T	uc003tch.3	-	1	644	c.291G>A	c.(289-291)caG>caA	p.Q97Q	NEUROD6_uc022abi.1_Silent_p.Q97Q	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	97					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CGTTCGCTTCCTGTCTCCTGA	0.488000														327			58		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82582200	82582200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:82582200C>T	uc003uhx.2	-	4	8358	c.8069G>A	c.(8068-8070)gGt>gAt	p.G2690D	PCLO_uc003uhv.2_Missense_Mutation_p.G2690D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2621					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						GCTGCTGAGACCAACACTAGG	0.413000														44			22		0	0	0.002780	0	0
CCP110	9738	broad.mit.edu	37	16	19548723	19548723	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19548723G>T	uc002dgl.4	+	3	1979	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y	CCP110_uc002dgk.4_Missense_Mutation_p.D578Y	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	578					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ACAATTTTTGGATAACAGTTT	0.353000														56			56		1.59911e-31	2.07687e-31	0.003610	1	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		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)		ATTTGAGGAACAGCACATCAG	0.438000														221			32		0	0	0.002096	0	0
STK33	65975	broad.mit.edu	37	11	8435091	8435091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:8435091C>T	uc001mgi.1	-	10	2214	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	STK33_uc001mgj.1_Missense_Mutation_p.G432E|STK33_uc001mgk.1_Missense_Mutation_p.G432E|STK33_uc010rbn.1_Missense_Mutation_p.G391E|STK33_uc001mgl.3_Missense_Mutation_p.G245E	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	432						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGGGACATTTCCCCAGGGTTG	0.413000														159			65		0	0	0.003610	0	0
IKZF2	22807	broad.mit.edu	37	2	213872482	213872482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:213872482C>T	uc002vem.3	-	7	1352	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	IKZF2_uc010fuu.3_Missense_Mutation_p.E250K|IKZF2_uc002vej.3_Missense_Mutation_p.E342K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E321K|IKZF2_uc002vel.3_Missense_Mutation_p.E316K|IKZF2_uc010fuw.3_Missense_Mutation_p.E169K|IKZF2_uc010fux.3_Missense_Mutation_p.E169K|IKZF2_uc010fuy.3_Missense_Mutation_p.E323K|IKZF2_uc002ven.3_Missense_Mutation_p.E369K|IKZF2_uc002vei.3_Missense_Mutation_p.E173K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCTCTCTTTCCTGGGGTCGA	0.498000														89			86		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106653614	106653614	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106653614G>A	uc021ser.1	-	1432		c.28629C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.562000														58			45		0	0	0.002852	0	0
AK310441	0	broad.mit.edu	37	1	148891728	148891728	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:148891728G>A	uc009wkv.1	+	8		c.1030G>A								Homo sapiens cDNA, FLJ17483.																		ATGGTGATATGGATGATAGTC	0.348000														60			4		0	0	0.003080	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519764	69519764	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:69519764T>A	uc021xow.1	-	4	1462	c.1304A>T	c.(1303-1305)aAt>aTt	p.N435I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	435					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACAGGGTCATTAATGACTGA	0.378000														61			92		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21073863	21073863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:21073863C>T	uc010vbe.2	-	24	3660	c.3660G>A	c.(3658-3660)atG>atA	p.M1220I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1220	Stem (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)		CCGAGCTGATCATGCCCACAA	0.443000														52			48		0	0	0.003610	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843533	100843533	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100843533C>T	uc003uyc.3	-	2	437	c.270G>A	c.(268-270)agG>agA	p.R90R	MOGAT3_uc010lhr.3_Silent_p.R90R	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	90					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GATAATAATCCCTTAGTTGTC	0.557000														183			98		0	0	0.003610	0	0
CLRN2	645104	broad.mit.edu	37	4	17528529	17528529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:17528529C>T	uc003gpg.1	+	2	625	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	175						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCAGGAGAAGCTCTTCCAGTT	0.552000														21			38		0	0	0.004878	0	0
DNAH1	25981	broad.mit.edu	37	3	52412751	52412751	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:52412751C>T	uc011bef.2	+	46	7593	c.7332C>T	c.(7330-7332)tcC>tcT	p.S2444S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2444	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACCTCTCCAAGGTCTTCC	0.617000														7			84		0	0	0.003610	0	0
TTC29	83894	broad.mit.edu	37	4	147724760	147724760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:147724760C>T	uc003ikx.4	-	11	1507	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	TTC29_uc003ikw.4_Missense_Mutation_p.M393I|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.M393I	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	393							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGTCTCATCCATCAGAGGCA	0.393000														10			4		0	0	0.000248	0	0
IMPG2	50939	broad.mit.edu	37	3	100986365	100986365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:100986365C>T	uc003duq.2	-	8	1101	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	IMPG2_uc011bhe.2_Missense_Mutation_p.E163K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	300	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGTCATTTTCCTTGGGGGAC	0.358000														49			37		0	0	0.003214	0	0
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55904831G>A	uc010riz.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502000														66			24		0	0	0.002299	0	0
ATAD2B	54454	broad.mit.edu	37	2	24107743	24107743	+	Splice_Site	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:24107743C>A	uc002rek.4	-	6	972	c.676_splice	c.e6-1	p.E226_splice	ATAD2B_uc002rei.4_Splice_Site_p.E226_splice|ATAD2B_uc010yki.2_Splice_Site|ATAD2B_uc010exx.2_Splice_Site_p.E226_splice	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	226							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATGTTTTCCTTTTAAAGA	0.333000														14			9		5.68852e-11	7.29796e-11	0.004482	1	0
CA10	56934	broad.mit.edu	37	17	50008390	50008390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:50008390G>A	uc002itv.4	-	3	993	c.257C>T	c.(256-258)cCc>cTc	p.P86L	CA10_uc002itw.4_Missense_Mutation_p.P80L|CA10_uc002itx.4_Missense_Mutation_p.P80L|CA10_uc002ity.4_Missense_Mutation_p.P80L|CA10_uc002itz.2_Missense_Mutation_p.P80L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	80					brain development					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)			TGTCAGAAAGGGGTCGAAGAT	0.502000														187			177		0	0	0.003610	0	0
FAM71D	161142	broad.mit.edu	37	14	67671476	67671476	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:67671476G>A	uc001xja.2	+	4	872	c.582G>A	c.(580-582)acG>acA	p.T194T	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	194										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CAGGAATTACGAATAGCACAG	0.498000														55			55		0	0	0.003610	0	0
AGBL2	79841	broad.mit.edu	37	11	47721024	47721024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:47721024C>T	uc001ngg.3	-	7	970	c.668G>A	c.(667-669)gGa>gAa	p.G223E	AGBL2_uc010rhq.1_Missense_Mutation_p.G185E|AGBL2_uc001ngh.1_Missense_Mutation_p.G167E	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	223					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GACAACTGTTCCTTTTTTCTC	0.328000														50			16		0	0	0.004990	0	0
SLC37A2	219855	broad.mit.edu	37	11	124947392	124947392	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:124947392C>T	uc010sau.2	+	3	533	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SLC37A2_uc001qbn.3_Silent_p.F94F	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	94					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ACAACGCCTTCCTCATCGCCT	0.522000														0			8		0	0	0.004482	0	0
ADAM11	4185	broad.mit.edu	37	17	42854579	42854579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42854579C>T	uc002ihh.3	+	20	1727	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	ADAM11_uc010wjd.2_Missense_Mutation_p.T376M|ADAM11_uc002ihi.3_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	576	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGGAGGGGACGGAGCGTGGG	0.647000														14			25		0	0	0.006320	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721273	66721273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:66721273G>A	uc002lkk.2	+	9	1664	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	CCDC102B_uc002lki.2_Missense_Mutation_p.D481N	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	481										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGCTTGATGATTCCCTGAA	0.368000														5			61		0	0	0.003610	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588613	20588613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20588613C>T	uc001ytg.3	-	26	4157	c.3448G>A	c.(3448-3450)Gag>Aag	p.E1150K	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.E1150K(2)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTGTATTCTCCTTCTCACAC	0.418000														34			9		0	0	0.006214	0	0
NLRC3	197358	broad.mit.edu	37	16	3614346	3614346	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:3614346A>C	uc010btn.3	-	4	1003	c.592T>G	c.(592-594)Ttc>Gtc	p.F198V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	198	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACGTGCGGGAAGACCGAGCAG	0.652000														21			10		0	0	0.008291	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:68172103C>T	uc010dfg.3	+	1	1324	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_uc002jir.3_Missense_Mutation_p.T308M|KCNJ2_uc021ucj.1_Missense_Mutation_p.T308M	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463000														71			25		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179419596	179419596	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179419596G>A	uc021vsy.1	-	279	81111	c.80886C>T	c.(80884-80886)atC>atT	p.I26962I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I20657I|TTN_uc021vta.1_Silent_p.I20590I|TTN_uc021vtb.1_Silent_p.I20465I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27889	Fibronectin type-III 96.						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)			ACCTACCAAGGATCTGTACTC	0.398000														40			41		0	0	0.006999	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285640	44285640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:44285640C>T	uc010qfe.1	-	0	226	c.196G>A	c.(196-198)Gta>Ata	p.V66I						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TCTCTCATTACCAGACAATCT	0.433000														2			23		0	0	0.002780	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298683	125298683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:125298683C>T	uc004euk.2	-	0	1398	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	409										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGAGCCAGCCTCTGCCGCAG	0.607000														3			102		0	0	0.003610	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627549	162627549	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:162627549A>C	uc002ubx.4	+	1	299	c.115A>C	c.(115-117)Aaa>Caa	p.K39Q	SLC4A10_uc010fpa.1_Missense_Mutation_p.K51Q|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.K50Q|SLC4A10_uc002uby.4_Missense_Mutation_p.K39Q	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	39					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						ACACTTTGAGAAAGAAGATTT	0.338000														7			11		0	0	0.001368	0	0
C14orf39	317761	broad.mit.edu	37	14	60950455	60950455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:60950455C>T	uc001xez.4	-	3	297	c.187G>A	c.(187-189)Gat>Aat	p.D63N	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	63										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CAGTAATGATCAATTTCCTCA	0.289000														21			18		0	0	0.007413	0	0
ISM1	140862	broad.mit.edu	37	20	13279935	13279935	+	Silent	SNP	C	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:13279935C>G	uc010gce.1	+	5	1230	c.1224C>G	c.(1222-1224)acC>acG	p.T408T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	408	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATCAGCACCGAGTTCTCCG	0.632000														10			13		0	0	0.001855	0	0
ACY3	91703	broad.mit.edu	37	11	67413303	67413303	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:67413303G>T	uc001omq.3	-	3	463	c.292C>A	c.(292-294)Cag>Aag	p.Q98K		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	98					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	p.Q98L(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCCAGCAGCTGGTTCAGCTCT	0.607000														51			70		2.6465e-34	3.44996e-34	0.003610	1	0
DSCR4	10281	broad.mit.edu	37	21	39427007	39427007	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:39427007A>T	uc002ywp.3	-	2	404	c.299T>A	c.(298-300)cTc>cAc	p.L100H		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	100										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TTTCTTGTGGAGCCCATGGAG	0.468000														64			52		0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31325319	31325319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31325319G>A	uc010dmg.1	+	11	5562	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1543E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1836					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						AGGACTGTAGGAGAACACACT	0.483000														85			147		0	0	0.003610	0	0
STEAP3	55240	broad.mit.edu	37	2	120003121	120003121	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:120003121A>C	uc002tlp.3	+	2	206	c.49A>C	c.(49-51)Agc>Cgc	p.S17R	STEAP3_uc002tlq.3_Missense_Mutation_p.S27R|STEAP3_uc002tlr.3_Missense_Mutation_p.S17R|STEAP3_uc010fle.3_Missense_Mutation_p.S17R	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	17					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTGGTGGACAGCGATAGTAG	0.617000														33			32		0	0	0.004289	0	0
PTPN23	25930	broad.mit.edu	37	3	47454615	47454615	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47454615C>T	uc003crf.1	+	24	4947	c.4851C>T	c.(4849-4851)acC>acT	p.T1617T	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.T1487T|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1617					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGGGCCACCCGGCCCTCTG	0.592000														4			38		0	0	0.006230	0	0
KCNH6	81033	broad.mit.edu	37	17	61601708	61601708	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:61601708C>T	uc002jay.3	+	1	365	c.285C>T	c.(283-285)gaC>gaT	p.D95D	KCNH6_uc002jax.1_Silent_p.D95D|KCNH6_uc010wpl.2_Intron|KCNH6_uc010wpm.2_Silent_p.D95D|KCNH6_uc002jaz.1_Silent_p.D95D	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	95	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCAAGGTGGACATCCTCTACT	0.637000														39			32		0	0	0.002096	0	0
FBXO47	494188	broad.mit.edu	37	17	37119224	37119224	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:37119224G>T	uc002hrc.2	-	1	255	c.55C>A	c.(55-57)Cgt>Agt	p.R19S		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	19										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CGATTACTACGTCTAAGTTTC	0.358000														75			30		2.47316e-13	3.18843e-13	0.003271	1	0
RGPD3	653489	broad.mit.edu	37	2	107040744	107040744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:107040744C>T	uc010ywi.1	-	19	3736	c.3679G>A	c.(3679-3681)Ggt>Agt	p.G1227S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1227					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCGGCCGCACCTGTACCTGAA	0.413000														230			175		0	0	0.003610	0	0
ZNF484	83744	broad.mit.edu	37	9	95608527	95608527	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:95608527G>A	uc004asu.1	-	4	2691	c.2542C>T	c.(2542-2544)Caa>Taa	p.Q848*	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.Q850*|ZNF484_uc004asv.1_Nonsense_Mutation_p.Q812*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.Q812*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGAAAGTTGGCCTTGGTCA	0.428000														7			56		0	0	0.003610	0	0
MMRN1	22915	broad.mit.edu	37	4	90857607	90857607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:90857607G>A	uc003hst.3	+	5	2847	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.E668K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	926					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.E926K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTCTCCACGAAGTTTTAAC	0.373000														20			29		0	0	0.005443	0	0
GRIK3	2899	broad.mit.edu	37	1	37271923	37271923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:37271923G>A	uc001caz.2	-	13	2231	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	GRIK3_uc001cba.1_Missense_Mutation_p.S699F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	699					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAGATCTTGGATTTCTGGGC	0.602000														0			12		0	0	0.001368	0	0
ODC1	4953	broad.mit.edu	37	2	10584663	10584663	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:10584663A>C	uc010exg.1	-	3	647	c.213T>G	c.(211-213)aaT>aaG	p.N71K	ODC1_uc002rao.1_Missense_Mutation_p.N71K|ODC1_uc010yjd.1_5'UTR	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	71					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTTTGCTATCATTACATTTGA	0.473000														37			36		0	0	0.005524	0	0
STAU1	6780	broad.mit.edu	37	20	47740959	47740959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:47740959C>T	uc002xud.3	-	6	1186	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	STAU1_uc002xua.3_Missense_Mutation_p.E178K|STAU1_uc002xub.3_Missense_Mutation_p.E184K|STAU1_uc002xuc.3_Missense_Mutation_p.E178K|STAU1_uc002xue.3_Missense_Mutation_p.E178K|STAU1_uc002xuf.3_Missense_Mutation_p.E184K|STAU1_uc002xug.3_Missense_Mutation_p.E259K	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	259						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTTACTCGTTCAACTGCAGGC	0.433000														211			155		0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139164774	139164774	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:139164774C>T	uc003yuy.3	-	12	2115	c.1944G>A	c.(1942-1944)ctG>ctA	p.L648L	FAM135B_uc003yux.3_Silent_p.L549L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.L210L|FAM135B_uc003yvb.3_Silent_p.L210L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	648								p.L648M(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGGCTCCCTCAGGGTAGAAC	0.488000										HNSCC(54;0.14)				34			58		0	0	0.003610	0	0
MYO6	4646	broad.mit.edu	37	6	76558150	76558150	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:76558150T>C	uc003pih.1	+	10	1259	c.980T>C	c.(979-981)aTt>aCt	p.I327T	MYO6_uc003pig.1_Missense_Mutation_p.I327T|MYO6_uc003pii.1_Missense_Mutation_p.I327T	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	327	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATGAAAAAAATTGGTTTGGAT	0.418000														1			61		0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011452	21011452	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:21011452C>T	uc010sil.2	+	2	371	c.306C>T	c.(304-306)ctC>ctT	p.L102L	SLCO1B3_uc001rek.3_Silent_p.L102L|SLCO1B3_uc001rel.3_Silent_p.L102L|SLCO1B3_uc010sim.2_Silent_p.L102L			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	102					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTGGTTGTCTCCTTATGGGAA	0.323000														52			51		0	0	0.003610	0	0
WDR35	57539	broad.mit.edu	37	2	20130310	20130310	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:20130310T>C	uc002rdi.3	-	25	3109	c.3001A>G	c.(3001-3003)Act>Gct	p.T1001A	WDR35_uc002rdj.3_Missense_Mutation_p.T990A|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.T474A	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	1001										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCAGAAGTGGCCTACGAG	0.453000														46			29		0	0	0.002096	0	0
OR2B6	26212	broad.mit.edu	37	6	27925668	27925668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:27925668C>T	uc011dkx.2	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTTATATCATATGCTTTT	0.423000														154			62		0	0	0.003610	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565663	11565663	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:11565663G>T	uc002mry.1	-	6	1162	c.782C>A	c.(781-783)cCg>cAg	p.P261Q	ELAVL3_uc002mrx.1_Missense_Mutation_p.P254Q	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	261					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATGGCGATCGGCGAGAACCT	0.682000														88			119		1.88967e-73	2.47255e-73	0.003610	1	0
DYSF	8291	broad.mit.edu	37	2	71892301	71892301	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71892301G>A	uc010fen.3	+	46	5325	c.5184G>A	c.(5182-5184)ccG>ccA	p.P1728P	DYSF_uc010fei.3_Silent_p.P1706P|DYSF_uc010feh.3_Silent_p.P1696P|DYSF_uc002sig.4_Silent_p.P1675P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1720P|DYSF_uc010fee.3_Silent_p.P1710P|DYSF_uc010fef.3_Silent_p.P1727P|DYSF_uc002sie.3_Silent_p.P1689P|DYSF_uc010feo.3_Silent_p.P1721P|DYSF_uc010fej.3_Silent_p.P1697P|DYSF_uc010fel.3_Silent_p.P1676P|DYSF_uc010fem.3_Silent_p.P1711P|DYSF_uc002sif.3_Silent_p.P1690P|DYSF_uc010fek.3_Silent_p.P1707P|DYSF_uc010yqy.2_Silent_p.P570P|DYSF_uc010yqz.2_Silent_p.P450P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1689						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTCTGGACCGAACCAGTGGC	0.577000														90			68		0	0	0.003610	0	0
ZNF432	9668	broad.mit.edu	37	19	52537165	52537165	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:52537165T>C	uc002pyk.3	-	4	2085	c.1767A>G	c.(1765-1767)caA>caG	p.Q589Q		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGTATGAACTTGCTTATGTA	0.378000														33			55		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141359104	141359104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:141359104G>A	uc002tvj.1	-	41	7876	c.6904C>T	c.(6904-6906)Cgg>Tgg	p.R2302W		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2302					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTCCAGGCCGAGTCTGGTCC	0.498000										TSP Lung(27;0.18)				46			43		0	0	0.008740	0	0
OR51G1	79324	broad.mit.edu	37	11	4944710	4944710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4944710G>A	uc010qyr.2	-	0	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453000														66			32		0	0	0.006999	0	0
CSMD3	114788	broad.mit.edu	37	8	113308069	113308069	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:113308069G>A	uc003ynu.3	-	53	8766	c.8607C>T	c.(8605-8607)tcC>tcT	p.S2869S	CSMD3_uc003yns.3_Silent_p.S2071S|CSMD3_uc003ynt.3_Silent_p.S2829S|CSMD3_uc011lhx.2_Silent_p.S2700S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2869	Sushi 18.					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						TACGCACACAGGATGGGAGCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				14			9		0	0	0.000978	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948554	133948554	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:133948554T>C	uc001lkx.4	+	3	859	c.859T>C	c.(859-861)Ttg>Ctg	p.L287L		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAACAGCAGTTGGATGAAAA	0.488000														1			24		0	0	0.004656	0	0
ADAM18	8749	broad.mit.edu	37	8	39495127	39495127	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:39495127C>T	uc003xni.3	+	8	787	c.732C>T	c.(730-732)tcC>tcT	p.S244S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.S220S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	244	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACCAGATTTCCACCAGTGGGG	0.368000														29			10		0	0	0.006214	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383112	41383112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:41383112C>T	uc002opm.3	-	6	1686	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	CYP2A7_uc002opo.3_Missense_Mutation_p.D382N|CYP2A7_uc002opn.3_Missense_Mutation_p.D331N	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	382						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R381Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGAAAAAATCCCGAAACTTG	0.532000														36			69		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106878046	106878046	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106878046G>A	uc021ser.1	-	408		c.12961C>T								Parts of antibodies, mostly variable regions.																		AAGAACCACAGGTGCTTCATT	0.507000														23			17		0	0	0.007413	0	0
ZNF707	286075	broad.mit.edu	37	8	144776491	144776491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:144776491C>T	uc003yze.4	+	6	1222	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	ZNF707_uc010mfh.3_Missense_Mutation_p.L303F|ZNF707_uc010mfi.3_Missense_Mutation_p.L303F|ZNF707_uc003yzf.4_Missense_Mutation_p.L303F|ZNF707_uc003yzh.4_Missense_Mutation_p.L230F|ZNF707_uc011lkq.1_Non-coding_Transcript|BREA2_uc010mfj.2_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAGGAGAACCTCAGCCACCA	0.642000														12			8		0	0	0.004482	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:73015526G>A	uc001sxa.3	+	14	2565	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	845					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCAGCAACAGGAACAGGTAAA	0.393000														22			10		0	0	0.000978	0	0
DUSP13	51207	broad.mit.edu	37	10	76855365	76855365	+	Missense_Mutation	SNP	C	T	T	rs146266949	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:76855365C>T	uc001jwr.3	-	2	425	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.R214Q|DUSP13_uc001jww.3_Missense_Mutation_p.R171Q|DUSP13_uc009xrs.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwt.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwv.3_Missense_Mutation_p.R121Q	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	112	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCGGATGTATCGAGCAACAGG	0.542000														5			43		0	0	0.002852	0	0
BIN2	51411	broad.mit.edu	37	12	51685417	51685417	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:51685417G>A	uc001ryg.3	-	9	1525	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	BIN2_uc009zlz.3_Silent_p.N459N|BIN2_uc001ryh.3_Silent_p.N367N|BIN2_uc010sng.2_Silent_p.N465N	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	491						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTTCTTCAGGGTTCTGATTGT	0.408000														33			309		0	0	0.003610	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484350	123484350	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:123484350G>A	uc001pyw.2	+	15	2132	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	GRAMD1B_uc001pyx.2_Silent_p.R594R|GRAMD1B_uc010rzw.2_Silent_p.R554R|GRAMD1B_uc010rzx.1_Silent_p.R554R|GRAMD1B_uc001pyy.2_Silent_p.R285R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	594						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGGCCACAGGATCAAACATG	0.617000														0			11		0	0	0.002450	0	0
SYT10	341359	broad.mit.edu	37	12	33559894	33559894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:33559894G>A	uc001rll.1	-	2	1204	c.907C>T	c.(907-909)Cct>Tct	p.P303S	SYT10_uc009zju.1_Missense_Mutation_p.P113S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	303	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P303H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATGCTACAGGAAATTGAAAA	0.348000														48			22		0	0	0.001882	0	0
RBL1	5933	broad.mit.edu	37	20	35695483	35695483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:35695483G>A	uc002xgi.3	-	4	677	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	RBL1_uc002xgj.1_Missense_Mutation_p.H200Y|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	200					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGTAAATGATAAGAGTTT	0.328000														52			48		0	0	0.003610	0	0
NAV2	89797	broad.mit.edu	37	11	19967990	19967990	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:19967990C>T	uc010rdm.2	+	9	2620	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	NAV2_uc001mpp.3_Silent_p.I666I|NAV2_uc001mpr.4_Silent_p.I730I|NAV2_uc021qew.1_Silent_p.I730I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	753						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAAGAACATCGCTGATCTGC	0.463000														10			11		0	0	0.008291	0	0
LAMA3	3909	broad.mit.edu	37	18	21437841	21437841	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:21437841C>T	uc002kuq.3	+	32	4256	c.4170C>T	c.(4168-4170)gaC>gaT	p.D1390D	LAMA3_uc002kur.3_Silent_p.D1390D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1390	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGTGTGACCGATGTGCTT	0.493000														45			79		0	0	0.003610	0	0
GLI2	2736	broad.mit.edu	37	2	121745795	121745795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:121745795G>A	uc010flp.3	+	12	2335	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	GLI2_uc002tmq.1_Missense_Mutation_p.E441K|GLI2_uc002tmr.1_Missense_Mutation_p.E424K|GLI2_uc002tmt.4_Missense_Mutation_p.E441K|GLI2_uc002tmu.4_Missense_Mutation_p.E424K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	769					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCATCCTGGAAAACTTCAG	0.687000														17			25		0	0	0.002780	0	0
ZNF212	7988	broad.mit.edu	37	7	148950971	148950971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148950971G>A	uc003wfp.3	+	4	1081	c.953G>A	c.(952-954)tGt>tAt	p.C318Y		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCCTACGAATGTTCTGAGTGT	0.577000														85			22		0	0	0.003330	0	0
EXPH5	23086	broad.mit.edu	37	11	108381479	108381479	+	Silent	SNP	C	T	T	rs144642316		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:108381479C>T	uc001pkk.3	-	5	4866	c.4755G>A	c.(4753-4755)ggG>ggA	p.G1585G	EXPH5_uc010rvz.2_Silent_p.G1429G|EXPH5_uc010rvy.2_Silent_p.G1397G	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1585					intracellular protein transport		Rab GTPase binding	p.G1585G(2)		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)		ATCTATTTTCCCCCTTTACTA	0.423000														12			22		0	0	0.004656	0	0
ACSM2B	348158	broad.mit.edu	37	16	20556489	20556489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20556489G>A	uc002dhj.4	-	10	1481	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S424F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S424F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	424					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATAGCCAGAGAAGATGCC	0.512000														45			40		0	0	0.003214	0	0
OR2J3	442186	broad.mit.edu	37	6	29080276	29080276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:29080276G>A	uc011dll.2	+	0	609	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGACCCTCATGATCACAAGCT	0.473000														26			77		0	0	0.003610	0	0
FGFR4	2264	broad.mit.edu	37	5	176522718	176522718	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:176522718C>T	uc003mfl.3	+	12	1982	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	FGFR4_uc003mfm.3_Silent_p.S605S|FGFR4_uc011dfu.2_Silent_p.S537S|FGFR4_uc003mfo.3_Silent_p.S565S	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	605	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ATCTGGAGTCCCGGAAGGTAC	0.637000										TSP Lung(9;0.080)				18			8		0	0	0.004482	0	0
LIG1	3978	broad.mit.edu	37	19	48657186	48657186	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:48657186G>A	uc002pia.1	-	5	529	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Silent_p.L107L|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	137					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tgctcttccAGGACTTCCTGA	0.582000								Nucleotide excision repair (NER)						8			9		0	0	0.004482	0	0
CC2D1A	54862	broad.mit.edu	37	19	14029983	14029983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:14029983C>T	uc002mxo.2	+	10	1489	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	CC2D1A_uc002mxn.2_Missense_Mutation_p.A296V|CC2D1A_uc002mxp.2_Missense_Mutation_p.A397V|CC2D1A_uc010dzh.2_Missense_Mutation_p.P11S|CC2D1A_uc002mxq.1_Missense_Mutation_p.A42V	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	397					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGCCGAGCCGTGGATGTC	0.711000														14			7		0	0	0.004482	0	0
OR2A12	346525	broad.mit.edu	37	7	143792246	143792246	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:143792246T>A	uc011kty.2	+	0	46	c.46T>A	c.(46-48)Ttc>Atc	p.F16I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTGTTGGGATTCCAGGTGGA	0.438000														83			16		0	0	0.004007	0	0
DDX60L	91351	broad.mit.edu	37	4	169374347	169374347	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:169374347G>A	uc021xuh.1	-	6	1034	c.924C>T	c.(922-924)ccC>ccT	p.P308P	DDX60L_uc003irq.4_Silent_p.P308P|DDX60L_uc003irr.1_Silent_p.P308P|DDX60L_uc003irs.1_Silent_p.P35P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	308							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGAGAAAGGGGTAAGTGGA	0.413000														24			21		0	0	0.001882	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														602			45		0	0	0.003610	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	T	T	rs145326290	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:104449164C>T	uc004bbp.2	-	1	1619	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	340					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTAATTTCGAAAATCCGC	0.517000														3			31		0	0	0.002096	0	0
LRP1B	53353	broad.mit.edu	37	2	141130601	141130601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:141130601C>T	uc002tvj.1	-	68	11716	c.10744G>A	c.(10744-10746)Gaa>Aaa	p.E3582K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3582	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCATCTTCCCCATATTTG	0.363000										TSP Lung(27;0.18)				83			62		0	0	0.003610	0	0
SLC9A8	23315	broad.mit.edu	37	20	48466142	48466142	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:48466142C>T	uc002xuv.1	+	5	669	c.459C>T	c.(457-459)tcC>tcT	p.S153S	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.S153S|SLC9A8_uc010zyk.1_Silent_p.S153S|SLC9A8_uc010zyl.1_Silent_p.S125S|SLC9A8_uc010gib.1_Intron	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	153						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATATTGGTTCCATCACCCTGT	0.423000														40			22		0	0	0.002299	0	0
PPM1N	147699	broad.mit.edu	37	19	46005303	46005303	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:46005303A>G	uc002pce.3	+	4	1253	c.1253A>G	c.(1252-1254)aAc>aGc	p.N418S	PPM1N_uc002pcf.3_Missense_Mutation_p.N100S	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	418							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGGAAGTCCAACCCCACGCAT	0.507000														17			24		0	0	0.004656	0	0
RANBP17	64901	broad.mit.edu	37	5	170720948	170720948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:170720948C>T	uc003mba.3	+	25	3147	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	RANBP17_uc003mbb.3_Missense_Mutation_p.S327F|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1002					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTCAGTATCCAGGCCTCTC	0.488000			T	TRD@	ALL									177			143		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126369688	126369688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126369688C>T	uc003ifj.4	+	8	7517	c.7517C>T	c.(7516-7518)tCg>tTg	p.S2506L	FAT4_uc011cgp.2_Missense_Mutation_p.S804L|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2506	Cadherin 24.				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						TATTCTCTTTCGGGTAGAAAT	0.423000														33			22		0	0	0.001882	0	0
ERBB4	2066	broad.mit.edu	37	2	212426687	212426687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:212426687C>T	uc002veg.1	-	19	2526	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	ERBB4_uc002veh.1_Missense_Mutation_p.E810K|ERBB4_uc010zji.1_Missense_Mutation_p.E800K|ERBB4_uc010zjj.1_Missense_Mutation_p.E800K|ERBB4_uc010fut.1_Missense_Mutation_p.E810K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	810	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCTTGTGCTCGTGGACATAC	0.473000										TSP Lung(8;0.080)				81			60		0	0	0.003610	0	0
PSG11	5680	broad.mit.edu	37	19	43523096	43523096	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43523096G>A	uc002ovm.1	-	2	642	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.L57L|PSG11_uc002ovo.1_Silent_p.L57L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCCACCACAGGTAGCTTGCG	0.512000														123			197		0	0	0.003610	0	0
PPP1R2	5504	broad.mit.edu	37	3	195256633	195256633	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:195256633A>G	uc003fup.3	-	1	568	c.192T>C	c.(190-192)ggT>ggC	p.G64G	PPP1R2_uc003fuq.4_Silent_p.G64G	NM_006241	NP_006232	P41236	IPP2_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA.	64					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTTTCATTAAACCATAGTCTT	0.363000														38			30		0	0	0.002445	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319582	43319582	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:43319582T>C	uc010dnk.3	+	8	1291	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	SLC14A1_uc002lbi.4_Missense_Mutation_p.F169L|SLC14A1_uc010xcn.2_Missense_Mutation_p.F301L|SLC14A1_uc002lbf.4_Missense_Mutation_p.F301L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.F196L|SLC14A1_uc002lbh.4_Missense_Mutation_p.F193L|SLC14A1_uc002lbj.4_Missense_Mutation_p.F357L|SLC14A1_uc002lbk.4_Missense_Mutation_p.F301L|SLC14A1_uc021ujg.1_Silent_p.C251C	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	301						integral to plasma membrane	urea transmembrane transporter activity	p.N356S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGAGGAATGTTCATGGCGCT	0.547000														39			48		0	0	0.003610	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505189	151505189	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:151505189G>A	uc003ilw.3	+	0	2113	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	336					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCCTGGAGAGCGCTGCCA	0.587000														24			8		0	0	0.004482	0	0
GGCT	79017	broad.mit.edu	37	7	30538442	30538442	+	Missense_Mutation	SNP	G	A	A	rs142543540	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:30538442G>A	uc003tba.3	-	2	532	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	GGCT_uc022abe.1_Intron|GGCT_uc003tbb.3_Intron|GGCT_uc003tbc.3_Non-coding_Transcript|GGCT_uc022abf.1_Intron|GGCT_uc003taz.3_Missense_Mutation_p.P73S	NM_024051	NP_076956	O75223	GGCT_HUMAN	Homo sapiens gamma-glutamylcyclotransferase (GGCT), transcript variant 1, mRNA.	134					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGGGATGGGGGAGCACTTTCG	0.318000														129			32		0	0	0.002836	0	0
PDGFRA	5156	broad.mit.edu	37	4	54306789	54306789	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:54306789C>T	uc011bzt.1	+	12	1293	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Intron|PDGFRA_uc011bzu.2_Intron|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Intron|PDGFRA_uc010ign.3_Intron|FIP1L1_uc003hae.3_Intron	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAACTTTTTTCATGTTTTCTC	0.323000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				8			3		0	0	0.004672	0	0
GC	2638	broad.mit.edu	37	4	72620797	72620797	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:72620797A>G	uc010iif.3	-	9	1214	c.1119T>C	c.(1117-1119)acT>acC	p.T373T	GC_uc003hge.3_Silent_p.T354T|GC_uc021xpb.1_Silent_p.T354T	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	354	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.L372F(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CCGGAAGATGAGTCCTTCTGC	0.333000														17			30		0	0	0.002836	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	A	A	rs145666754		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:19553789G>A	uc001vuz.1	+	0	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	125								p.D125E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000														625			65		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22942238	22942238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:22942238G>A	uc021urt.1	-	3	628	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTGAATTTGAATATTTATG	0.274000														1			6		0	0	0.001168	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987619	154987619	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154987619G>C	uc001fgj.4	+	4	870	c.585G>C	c.(583-585)caG>caC	p.Q195H	ZBTB7B_uc009wpa.3_Missense_Mutation_p.Q161H|ZBTB7B_uc001fgk.4_Missense_Mutation_p.Q161H|ZBTB7B_uc010peq.2_Missense_Mutation_p.Q195H|ZBTB7B_uc001fgl.4_Missense_Mutation_p.Q161H	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	161	Pro-rich.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCCGCCAGTATCTGGAGG	0.632000														72			21		0	0	0.004656	0	0
GABRG1	2565	broad.mit.edu	37	4	46060350	46060350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:46060350C>T	uc003gxb.3	-	6	952	c.800G>A	c.(799-801)aGc>aAc	p.S267N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	267					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S267S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATTCTTCTGCTCAGGTCAAA	0.308000														36			12		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179440352A>C	uc021vsy.1	-	274	63028	c.62803T>G	c.(62803-62805)Tgt>Ggt	p.C20935G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21862	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438000														158			13		0	0	0.004878	0	0
ANKAR	150709	broad.mit.edu	37	2	190557145	190557145	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:190557145G>A	uc002uqw.2	+	4	1291	c.1203_splice	c.e4+1	p.Q401_splice	ANKAR_uc002uqu.3_Splice_Site|ANKAR_uc002uqv.1_Missense_Mutation_p.V402I	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	401						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)			AGATTTTCAGGTTTAAATGAT	0.358000														29			29		0	0	0.003755	0	0
CHRM3	1131	broad.mit.edu	37	1	240070807	240070807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240070807C>T	uc021plc.1	+	0	56	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CHRM3_uc001hyp.3_Missense_Mutation_p.S19F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	19					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)	ATCAGCTCCTCCTGGATACAC	0.522000														73			57		0	0	0.003610	0	0
C10orf120	399814	broad.mit.edu	37	10	124457576	124457576	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:124457576C>T	uc001lgn.3	-	2	713	c.681G>A	c.(679-681)aaG>aaA	p.K227K		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	227										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTCCTCTTTCTTATCTTGGT	0.388000														2			25		0	0	0.002780	0	0
SEPP1	6414	broad.mit.edu	37	5	42804836	42804836	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42804836G>A	uc011cps.2	-	4	644	c.546C>T	c.(544-546)tcC>tcT	p.S182S	SEPP1_uc011cpt.2_Silent_p.S152S|SEPP1_uc011cpu.2_Silent_p.S152S|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	152					response to oxidative stress	extracellular region	selenium binding	p.K181R(10)		kidney(10)|large_intestine(1)|lung(4)	15						AAGTTAGGAAGGAAAAAGGCA	0.343000														42			11		0	0	0.008291	0	0
ELMO1	9844	broad.mit.edu	37	7	37264565	37264565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:37264565G>A	uc022abv.1	-	8	1330	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ELMO1_uc011kbc.2_Missense_Mutation_p.S111L|ELMO1_uc003tfk.2_Missense_Mutation_p.S207L|ELMO1_uc010kxg.2_Missense_Mutation_p.S207L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	207					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S207S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCACCATCGACTCCAAAAT	0.502000														46			35		0	0	0.002836	0	0
TFAP2C	7022	broad.mit.edu	37	20	55212796	55212796	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:55212796A>G	uc002xya.3	+	6	1323	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	TFAP2C_uc010zzi.2_Silent_p.K191K	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	360	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACTGTGTAAAGAATTCACAG	0.517000														55			40		0	0	0.005524	0	0
abParts	0	broad.mit.edu	37	14	106805234	106805234	+	Splice_Site	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106805234T>C	uc001ysw.1	-	1		c.1_splice	c.e1-1		abParts_uc021ser.1_Non-coding_Transcript					Human Ig heavy chain C-mu germline transcript, partial cds.																		CACGGCCGTGTCCGCGGCAGT	0.582000														242			118		0	0	0.003610	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051605	193051605	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:193051605G>A	uc011bsq.2	-	10	1206	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	402					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGGAACACGATGAACTTGA	0.453000														34			42		0	0	0.006999	0	0
C19orf63	284361	broad.mit.edu	37	19	50984008	50984008	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50984008C>T	uc002psl.3	+	4	639	c.573C>T	c.(571-573)acC>acT	p.T191T	C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Silent_p.T191T	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	191						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		AGCCGCCCACCACAGCCCCAG	0.721000														5			11		0	0	0.008291	0	0
FAM116B	414918	broad.mit.edu	37	22	50750839	50750839	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:50750839T>C	uc011arv.1	-	18	1640	c.1568A>G	c.(1567-1569)gAg>gGg	p.E523G		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	523										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCCAGGTCTCGATGTTCTG	0.622000														15			9		0	0	0.000978	0	0
SYN2	6854	broad.mit.edu	37	3	12211285	12211285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:12211285G>A	uc003bwm.3	+	12	1339	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	SYN2_uc003bwl.1_Missense_Mutation_p.G392E|SYN2_uc003bwn.3_Missense_Mutation_p.G70E	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	396					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CCACTGATTGGGGAACATCAG	0.527000														211			165		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34149456	34149456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:34149456G>A	uc004ddg.3	-	0	992	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	314										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						GGCTCCTGGCGGAGATGGGAC	0.607000														3			22		0	0	0.001882	0	0
GRIK2	2898	broad.mit.edu	37	6	102337537	102337537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:102337537C>T	uc003pqp.4	+	10	1840	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	GRIK2_uc003pqn.3_Missense_Mutation_p.P516L|GRIK2_uc010kcw.3_Missense_Mutation_p.P516L|GRIK2_uc003pqo.4_Missense_Mutation_p.P516L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	516	Glutamate binding (By similarity).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCAGTTGCTCCACTGGCTATT	0.363000														4			58		0	0	0.003610	0	0
OR6K6	128371	broad.mit.edu	37	1	158724803	158724803	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158724803C>T	uc001fsw.1	+	0	198	c.198C>T	c.(196-198)atC>atT	p.I66I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	66					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)					ACGGATTTATCCTAACTGGAA	0.458000														6			151		0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99551612	99551612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:99551612C>T	uc010nmz.3	-	5	4786	c.3110G>A	c.(3109-3111)aGg>aAg	p.R1037K	PCDH19_uc004efw.4_Missense_Mutation_p.R989K|PCDH19_uc004efx.4_Missense_Mutation_p.R990K	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1037					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCGACAGTCCTCTTGCCTTT	0.597000														0			36		0	0	0.004878	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37469593	37469593	+	Missense_Mutation	SNP	C	T	T	rs137853120		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:37469593C>T	uc003aqt.1	-	12	1596	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	TMPRSS6_uc003aqs.1_Missense_Mutation_p.D521N	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	521	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGCTCTTCGTCGCTGCCGTTG	0.552000														78			55		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9091259	9091259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9091259G>A	uc002mkp.3	-	0	760	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	186	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P186S(3)|p.I185I(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						ATTTTTACAGGAATATATCTT	0.473000														51			21		0	0	0.002299	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570759	20570759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20570759C>T	uc002dhj.4	-	3	398	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R63Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R63Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGGGAGTCGCTTGCCAGC	0.512000														23			18		0	0	0.003330	0	0
KATNB1	10300	broad.mit.edu	37	16	57775704	57775704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:57775704C>T	uc002eml.1	+	2	520	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	49	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AACCTGTGGTCCATCAACAAG	0.662000														22			18		0	0	0.004990	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4936151G>A	uc001lzr.1	-	0	743	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000														34			39		0	0	0.007835	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104212809	104212809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:104212809G>A	uc001yof.1	-	8	1334	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Nonsense_Mutation_p.Q218*	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	351					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGGGAACCTGGATATAAGGC	0.542000														45			32		0	0	0.008361	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224911	45224911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:45224911G>A	uc002xsf.2	-	4	719	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC13A3_uc010ghn.2_Missense_Mutation_p.R196C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R129C|SLC13A3_uc010zxw.2_Silent_p.I204I|SLC13A3_uc002xsg.2_Missense_Mutation_p.R180C|SLC13A3_uc010gho.2_Missense_Mutation_p.R180C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	227						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGTTCCGACGATATTCATCC	0.542000														108			86		0	0	0.003610	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607030	131607030	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:131607030G>C	uc003kwo.3	+	4	618	c.541G>C	c.(541-543)Gac>Cac	p.D181H	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.D181H|PDLIM4_uc003kwp.3_Missense_Mutation_p.D181H	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	181				RGLPRSRDC -> EASRGAGS (in Ref. 1; CAA63767).			protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGAGCCGGGACTGCAGAGT	0.657000														3			29		0	0	0.007291	0	0
COL4A3	1285	broad.mit.edu	37	2	228118045	228118045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:228118045G>A	uc002vom.2	+	11	841	c.679G>A	c.(679-681)Gga>Aga	p.G227R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	227	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGACATAAAGGAGAGCGGGT	0.348000														3			59		0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47990040	47990040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:47990040G>A	uc002xur.1	-	1	2223	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L	KCNB1_uc002xus.1_Missense_Mutation_p.P686L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	686					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P686A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCTAGAACGGGGAGGAGTGG	0.557000														49			34		0	0	0.002445	0	0
CNGA4	1262	broad.mit.edu	37	11	6261746	6261746	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:6261746A>T	uc001mco.3	+	3	837	c.722A>T	c.(721-723)gAa>gTa	p.E241V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.E201V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	241					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCCAGGGAAGAAGAGTAC	0.557000														38			51		0	0	0.003610	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763249	31763249	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:31763249C>T	uc002wyo.1	+	4	518	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	149						extracellular region	lipid binding										TGAAAGCCTCCTTGGACCTCC	0.532000														102			105		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126373063	126373063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126373063G>A	uc003ifj.4	+	8	10892	c.10892G>A	c.(10891-10893)gGg>gAg	p.G3631E	FAT4_uc011cgp.2_Missense_Mutation_p.G1929E|FAT4_uc003ifi.1_Missense_Mutation_p.G1109E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3631					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						TTTCCCGGTGGGATTTTAGGC	0.453000														36			20		0	0	0.007413	0	0
ZNF398	57541	broad.mit.edu	37	7	148876644	148876644	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148876644C>T	uc011kum.2	+	6	1836	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	ZNF398_uc011kul.2_Silent_p.I389I|ZNF398_uc003wfl.3_Silent_p.I560I	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	560					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACCAGCGCATCCACACCGGGG	0.607000														141			51		0	0	0.003610	0	0
CNTN4	152330	broad.mit.edu	37	3	2777941	2777941	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:2777941G>T	uc003bpc.3	+	4	437	c.98G>T	c.(97-99)aGt>aTt	p.S33I	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S33I|CNTN4_uc003bpd.1_Missense_Mutation_p.S33I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	33	Ig-like C2-type 1.				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)		CAAGAACCAAGTCCTGTAATG	0.363000														131			89		2.179e-33	2.83701e-33	0.003610	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342339	60342339	+	RNA	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:60342339A>C	uc010woz.2	-	13		c.1790T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TGTTAAGCCTAGGGAAATTAT	0.478000														119			24		0	0	0.001786	0	0
STAG3	10734	broad.mit.edu	37	7	99799638	99799638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:99799638G>A	uc003utx.1	+	22	2523	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	STAG3_uc011kjk.1_Missense_Mutation_p.D732N|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.D14N	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	790					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGCCTCTCAGATGTGGATAC	0.522000														4			106		0	0	0.003610	0	0
ZNF318	24149	broad.mit.edu	37	6	43307297	43307297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:43307297G>A	uc003oux.3	-	9	4517	c.4439C>T	c.(4438-4440)cCa>cTa	p.P1480L	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1480	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGATACAACTGGGTTTGATTT	0.552000														26			38		0	0	0.002222	0	0
TINAG	27283	broad.mit.edu	37	6	54212256	54212256	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:54212256C>T	uc003pcj.2	+	5	986	c.840C>T	c.(838-840)aaC>aaT	p.N280N	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	280					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGCCAAGAACCGTCATGGAT	0.453000														36			61		0	0	0.003610	0	0
MTUS1	57509	broad.mit.edu	37	8	17573382	17573382	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:17573382C>T	uc003wxv.3	-	4	2952	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E	MTUS1_uc003wxt.3_Silent_p.E73E|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.E772E	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	826						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAGGTTTCTCCTCATATTTGA	0.378000														84			43		0	0	0.002222	0	0
DLL3	10683	broad.mit.edu	37	19	39994810	39994810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39994810C>T	uc002olx.2	+	4	810	c.752C>T	c.(751-753)cCt>cTt	p.P251L	DLL3_uc010egq.3_Missense_Mutation_p.P251L|DLL3_uc002olw.2_Missense_Mutation_p.P251L	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	251					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCACGGTCCCTGTCTCCACC	0.677000														41			20		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179411907	179411907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179411907C>T	uc021vsy.1	-	288	86866	c.86641G>A	c.(86641-86643)Gaa>Aaa	p.E28881K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22576K|TTN_uc021vta.1_Missense_Mutation_p.E22509K|TTN_uc021vtb.1_Missense_Mutation_p.E22384K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29808							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)			GTATTACGTTCTTTCTTCTCA	0.423000														191			181		0	0	0.003610	0	0
P2RY1	5028	broad.mit.edu	37	3	152553917	152553917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:152553917G>A	uc003ezq.3	+	0	1182	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	116					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAATAAAACAGACTGGATCTT	0.493000														62			38		0	0	0.006230	0	0
ODZ1	10178	broad.mit.edu	37	X	123556329	123556329	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:123556329G>A	uc010nqy.3	-	23	4328	c.4264C>T	c.(4264-4266)Ctg>Ttg	p.L1422L	ODZ1_uc011muj.2_Silent_p.L1421L|ODZ1_uc004euj.3_Silent_p.L1415L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1415					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTGCTGACCAGGAAATGATCG	0.527000														3			53		0	0	0.003610	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691122	39691122	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39691122C>T	uc002okq.1	+	4	704	c.685C>T	c.(685-687)Cag>Tag	p.Q229*		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	229	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCGCTGGGTCCAGGTGAGACT	0.667000														44			61		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179582416	179582416	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179582416C>T	uc021vsy.1	-	83	21678	c.21453G>A	c.(21451-21453)aaG>aaA	p.K7151K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K3812K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8078	Ig-like 53.						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)			GAACCCCATCCTTGTACCAAG	0.418000														20			17		0	0	0.007413	0	0
SCN10A	6336	broad.mit.edu	37	3	38748773	38748773	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38748773G>A	uc003ciq.3	-	24	4383	c.4383C>T	c.(4381-4383)ccC>ccT	p.P1461P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1461					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)	GGCTCACCAGGGGCCGTGGGA	0.547000														8			92		0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138450761	138450761	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:138450761C>A	uc003ihe.4	-	0	2869	c.2482G>T	c.(2482-2484)Gtt>Ttt	p.V828F	PCDH18_uc003ihf.4_Missense_Mutation_p.V821F|PCDH18_uc011cgz.2_Missense_Mutation_p.V39F|PCDH18_uc003ihg.4_Missense_Mutation_p.V608F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	828					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTTACCTCAACAGCAGGAGTG	0.393000														13			9		2.17888e-05	2.76499e-05	0.006214	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					3			108		0	0	0.004672	0	0
X97876	0	broad.mit.edu	37	9	66499748	66499748	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:66499748C>T	uc004aee.1	+	0	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CGTCCATTTTCGGGGTGGTGG	0.607000														75			6		0	0	0.008291	0	0
C9	735	broad.mit.edu	37	5	39331893	39331893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:39331893G>A	uc003jlv.4	-	4	589	c.500C>T	c.(499-501)cCc>cTc	p.P167L		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	167	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGCTTAGGGGATCCATCCC	0.458000														161			89		0	0	0.003610	0	0
PCDH17	27253	broad.mit.edu	37	13	58240614	58240614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:58240614C>T	uc001vhq.1	+	1	3470	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	PCDH17_uc010aec.1_Missense_Mutation_p.P860S|PCDH17_uc001vhr.1_5'Flank	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	860					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)		AGACAATTTTCCCGCAGAGCC	0.403000														20			47		0	0	0.003610	0	0
OTOP2	92736	broad.mit.edu	37	17	72927228	72927228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:72927228C>T	uc010wrp.2	+	5	1590	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	500						integral to membrane		p.L500I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCTCTGTTTCTCCTACTCTG	0.557000														64			41		0	0	0.002222	0	0
FAT4	79633	broad.mit.edu	37	4	126408600	126408600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126408600C>T	uc003ifj.4	+	15	12917	c.12917C>T	c.(12916-12918)aCt>aTt	p.T4306I	FAT4_uc011cgp.2_Missense_Mutation_p.T2547I|FAT4_uc003ifi.1_Missense_Mutation_p.T1784I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4306	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D4306H(1)		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						CACTGGCACACTTTTCTAATT	0.398000														23			17		0	0	0.004007	0	0
LOC285501	285501	broad.mit.edu	37	4	178911737	178911737	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:178911737G>A	uc010iru.3	+	5		c.867G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		GGATTGCTATGGCTCTGCCGG	0.398000														9			12		0	0	0.001368	0	0
CPE	1363	broad.mit.edu	37	4	166405684	166405684	+	Missense_Mutation	SNP	C	T	T	rs138641684		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:166405684C>T	uc003irg.4	+	4	1178	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	301					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.R301C(2)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCACCATGTCGCAAGAATGA	0.522000														130			97		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179449300	179449300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179449300G>A	uc021vsy.1	-	259	57499	c.57274C>T	c.(57274-57276)Cct>Tct	p.P19092S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Splice_Site|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P12787S|TTN_uc021vta.1_Missense_Mutation_p.P12720S|TTN_uc021vtb.1_Missense_Mutation_p.P12595S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20019	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P19092H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCACTAGGAACACCTGGA	0.393000														45			44		0	0	0.003214	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589626	67589626	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:67589626T>G	uc003jva.3	+	10	1969	c.1389T>G	c.(1387-1389)taT>taG	p.Y463*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Y163*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Y193*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Y142*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Y100*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Y133*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	463					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.E462_R465delEYDR(2)|p.Y463_L466del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.0?(1)|p.?(1)|p.E462*(1)|p.Y463fs*1(1)|p.Y463C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTCGAGAATATGATAGATTAT	0.294000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				3			31		0	0	0.002096	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563136	60563136	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:60563136T>G	uc021ule.1	+	5	2581	c.2336T>G	c.(2335-2337)tTg>tGg	p.L779W		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	779					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCCGAAGTATTGGAGAAATTG	0.408000														10			96		0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163694971	163694971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:163694971G>A	uc002uch.2	-	0	287	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	KCNH7_uc002uci.3_Missense_Mutation_p.R20W	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	20					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)	TCAAATTTCCGAATGATGGTC	0.567000														45			25		0	0	0.006320	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815267	106815267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:106815267G>A	uc003ymd.3	+	7	2980	c.2957G>A	c.(2956-2958)gGa>gAa	p.G986E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G717E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	986					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)			CCATATTATGGAATCAAGCCA	0.403000														12			10		0	0	0.006214	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373679	36373679	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:36373679G>A	uc003tfd.2	-	4	1143	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	KIAA0895_uc003tfc.2_Silent_p.P351P|KIAA0895_uc011kax.1_Silent_p.P361P|KIAA0895_uc003tfb.2_Silent_p.P313P|KIAA0895_uc011kaw.2_Silent_p.P261P	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	364										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTCCTCTGTGGGATTATTTG	0.438000														75			23		0	0	0.001882	0	0
PGAP1	80055	broad.mit.edu	37	2	197712707	197712707	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:197712707A>G	uc002utw.3	-	20	2030	c.1916T>C	c.(1915-1917)gTt>gCt	p.V639A	PGAP1_uc002utx.3_Missense_Mutation_p.V465A|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.3_5'Flank	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	639					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	p.K638E(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAAAGGATCAACTTTGTATGG	0.279000														52			43		0	0	0.003610	0	0
OR51B2	79345	broad.mit.edu	37	11	5345045	5345045	+	Silent	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5345045A>T	uc001mao.1	-	0	538	c.483T>A	c.(481-483)ctT>ctA	p.L161L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R160R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAATGAAAAAAGACGCAAAA	0.403000														17			33		0	0	0.002096	0	0
GDA	9615	broad.mit.edu	37	9	74764524	74764524	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:74764524T>C	uc004air.3	+	0	258	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	GDA_uc011lse.2_Intron|GDA_uc004aiq.3_Missense_Mutation_p.F17L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_5'UTR|GDA_uc004ais.3_5'UTR	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.F17F(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCGAGGGACGTTCGTCCACTC	0.701000														0			19		0	0	0.008871	0	0
C4B	721	broad.mit.edu	37	6	31963847	31963847	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:31963847T>C	uc011doy.2	+	25	3397	c.3346T>C	c.(3346-3348)Tcg>Ccg	p.S1116P	C4B_uc011doz.2_Missense_Mutation_p.S1116P	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCTGACGGCTCGTTCCAGGA	0.612000														103			42		0	0	0.002522	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912696	54912696	+	Splice_Site	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54912696A>G	uc001sgc.4	+	15	1500	c.1421_splice	c.e15-2	p.V474_splice	NCKAP1L_uc010sox.2_Splice_Site_p.V16_splice|NCKAP1L_uc010soy.2_Splice_Site_p.V424_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	474					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTTTCTTGCAGTTGATAATG	0.378000														30			6		0	0	0.001984	0	0
SORL1	6653	broad.mit.edu	37	11	121348870	121348870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:121348870C>T	uc001pxx.3	+	2	575	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	149					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGAAAATTTCAGACAAGTTA	0.438000														3			14		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257140	140257140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140257140G>A	uc003lic.2	+	0	2210	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D695N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	703					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)			GGCTCTGGTGGATATTAACGT	0.652000														3			33		0	0	0.003755	0	0
PLCB1	23236	broad.mit.edu	37	20	8717712	8717712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:8717712G>A	uc002wnb.3	+	19	2084	c.2081G>A	c.(2080-2082)gGg>gAg	p.G694E	PLCB1_uc010zrb.1_Missense_Mutation_p.G593E|PLCB1_uc002wna.3_Missense_Mutation_p.G694E|PLCB1_uc002wnc.1_Missense_Mutation_p.G593E|PLCB1_uc002wnd.1_Missense_Mutation_p.G271E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	694	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAAGTTGGGACTTACGTG	0.353000														70			36		0	0	0.004878	0	0
PTPN4	5775	broad.mit.edu	37	2	120702669	120702670	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:120702669_120702670CC>TT	uc002tmf.1	+	15	2139_2140	c.1368_1369CC>TT	c.(1366-1371)acccct>acTTct	p.P457S	PTPN4_uc010flj.1_Missense_Mutation_p.P170S|PTPN4_uc010yyr.1_Missense_Mutation_p.P90S	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	457						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CACAAGAGACCCCTGGAGATGG	0.381000														43			22		0	0	0.004672	0	0
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557000														57			55		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	31799756	31799756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:31799756G>A	uc003jhl.3	+	1	789	c.401G>A	c.(400-402)gGg>gAg	p.G134E	PDZD2_uc003jhm.3_Missense_Mutation_p.G134E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	134	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAAGAGTGGGAAGGTCCGA	0.592000														80			43		0	0	0.008740	0	0
ATP12A	479	broad.mit.edu	37	13	25268653	25268653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:25268653G>A	uc010aaa.3	+	10	1800	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	ATP12A_uc001upp.3_Missense_Mutation_p.M483I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	483					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGATGTGATGGAAATTAGAA	0.368000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			73		0	0	0.003610	0	0
DNER	92737	broad.mit.edu	37	2	230231656	230231656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:230231656C>T	uc002vpv.3	-	11	2182	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	679	Interaction with AP1G1 and somatodendritic targeting (By similarity).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.E679*(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTGTAGAACTCCTCATAGGCT	0.582000														3			40		0	0	0.005524	0	0
SCN5A	6331	broad.mit.edu	37	3	38592525	38592525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38592525C>T	uc021wvo.1	-	26	5390	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1747K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1726K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1762K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1779K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1780K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1592K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1646K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1780					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTCTCCTCCGTGGCCACG	0.507000														6			34		0	0	0.007835	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458543	45458543	+	RNA	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:45458543C>T	uc001rol.3	-	0		c.652G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AACGAGTTTCCTTTACAGGTC	0.488000														19			14		0	0	0.004007	0	0
HACL1	26061	broad.mit.edu	37	3	15610009	15610009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:15610009C>T	uc003caf.3	-	12	1340	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.V153M|HACL1_uc011avs.2_Missense_Mutation_p.V367M|HACL1_uc011avt.2_Missense_Mutation_p.V334M|HACL1_uc003cag.3_Missense_Mutation_p.V38M|HACL1_uc011avu.2_Missense_Mutation_p.V312M	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	394					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	p.F393F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCACTTACCACGAAACAGTCT	0.403000														64			50		0	0	0.003610	0	0
ELL2	22936	broad.mit.edu	37	5	95233952	95233952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:95233952G>A	uc003klr.4	-	7	1867	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	506					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ACCTCCACTGGAATTTGGACT	0.348000														8			46		0	0	0.003610	0	0
ABCB5	340273	broad.mit.edu	37	7	20778677	20778677	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:20778677A>T	uc010kuh.3	+	23	3176	c.2939A>T	c.(2938-2940)aAa>aTa	p.K980I	ABCB5_uc003suw.4_Missense_Mutation_p.K535I	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	535					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATATTCCAAAGCCAAATCG	0.428000														38			5		0	0	0.001168	0	0
B3GALTL	145173	broad.mit.edu	37	13	31848745	31848745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:31848745C>T	uc010aaz.3	+	8	870	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	254					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TACCACATTCCATTCTTTTCT	0.438000														24			57		0	0	0.003610	0	0
SMC5	23137	broad.mit.edu	37	9	72933761	72933761	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:72933761G>T	uc004ahr.2	+	14	2149	c.2032G>T	c.(2032-2034)Gaa>Taa	p.E678*	AX748336_uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	678					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCTTACGTGAAACAAGCAA	0.323000														8			11		5.16669e-11	6.63657e-11	0.000978	1	0
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:114282577C>T	uc003vhb.3	+	6	1262	c.888C>T	c.(886-888)tcC>tcT	p.S296S	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.S321S|FOXP2_uc003vha.3_Silent_p.S204S|FOXP2_uc011kmv.2_Silent_p.S295S|FOXP2_uc011kmu.2_Silent_p.S313S|FOXP2_uc010ljz.2_Silent_p.S204S|FOXP2_uc003vgx.2_Silent_p.S296S|FOXP2_uc003vhc.3_Silent_p.S321S|FOXP2_uc003vhd.3_Silent_p.S296S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	296				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439).	camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443000														85			33		0	0	0.002445	0	0
ZNF808	388558	broad.mit.edu	37	19	53058580	53058580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:53058580C>T	uc010epq.1	+	4	2588	c.2411C>T	c.(2410-2412)tCa>tTa	p.S804L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGCGTAATTCATACCTGGCA	0.403000														128			57		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179582006	179582006	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179582006G>A	uc021vsy.1	-	84	21948	c.21723C>T	c.(21721-21723)atC>atT	p.I7241I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I3902I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8168	Ig-like 54.						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)			AAGTGATTTTGATTGGTGCAG	0.423000														40			40		0	0	0.005524	0	0
FAM194A	131831	broad.mit.edu	37	3	150404122	150404122	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:150404122C>T	uc003eyg.3	-	3	630	c.573G>A	c.(571-573)gaG>gaA	p.E191E	FAM194A_uc003eyh.3_Silent_p.E45E	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	191										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTCAGCTTTCTCTTTAGAGG	0.383000														40			35		0	0	0.006999	0	0
NEB	4703	broad.mit.edu	37	2	152500476	152500476	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:152500476C>T	uc021vrb.1	-	54	7841	c.7812G>A	c.(7810-7812)gtG>gtA	p.V2604V	NEB_uc002txu.3_Silent_p.V2604V|NEB_uc021vrc.1_Silent_p.V2604V|NEB_uc010fnx.3_Silent_p.V2604V|NEB_uc021vrd.1_Silent_p.V2604V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2604					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.P2603Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAGCATGTCCACTGGGCTGC	0.547000														286			211		0	0	0.003610	0	0
FUT8	2530	broad.mit.edu	37	14	66200026	66200026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:66200026C>T	uc001xin.3	+	9	3064	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	FUT8_uc001xio.3_Missense_Mutation_p.S446L|FUT8_uc010tsp.2_Missense_Mutation_p.S283L|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.S446L|FUT8_uc001xiq.3_Missense_Mutation_p.S317L|FUT8_uc021ruy.1_Missense_Mutation_p.S317L	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	446					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGAAAATTCACTTCGTGGA	0.358000														74			45		0	0	0.003214	0	0
MFN1	55669	broad.mit.edu	37	3	179096489	179096489	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:179096489C>T	uc003fjt.3	+	12	1640	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	MFN1_uc003fjs.3_Nonsense_Mutation_p.Q517*|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Intron	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	517					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTCAGATTTTCAAGAGGATAT	0.388000														30			25		0	0	0.002780	0	0
GALNT14	79623	broad.mit.edu	37	2	31135116	31135116	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:31135116G>A	uc002rns.3	-	14	2128	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	GALNT14_uc002rnq.3_Silent_p.V471V|GALNT14_uc010ymr.2_Silent_p.V456V|GALNT14_uc002rnr.3_Silent_p.V491V	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	491	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G496*(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCTTGCAAAGGACAAGAACCA	0.562000														71			59		0	0	0.003610	0	0
THSD1	55901	broad.mit.edu	37	13	52951929	52951929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:52951929G>A	uc001vgo.3	-	4	2721	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	THSD1_uc001vgp.3_Missense_Mutation_p.P673S|THSD1_uc010tgz.2_Missense_Mutation_p.P347S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	726						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TAGGATTTAGGGAGAGGGTTT	0.537000														116			37		0	0	0.002222	0	0
ZNF354B	117608	broad.mit.edu	37	5	178294031	178294031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:178294031C>T	uc003mjl.3	+	3	441	c.215C>T	c.(214-216)cCc>cTc	p.P72L	ZNF354B_uc003mjm.3_Missense_Mutation_p.P72L	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			GGAGAAGATCCCTGGGAGGTG	0.488000														69			38		0	0	0.002222	0	0
TREML2	79865	broad.mit.edu	37	6	41165918	41165918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:41165918C>T	uc010jxm.1	-	1	484	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	102	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACCAGTATCGGCCTGAGTC	0.617000														61			61		0	0	0.003610	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389555	1389555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:1389555C>T	uc003gdf.2	+	0	4216	c.1256C>T	c.(1255-1257)aCc>aTc	p.T419I		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	419	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GACGCTGTTACCGTACATTCT	0.488000														33			46		0	0	0.003214	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449894	35449894	+	RNA	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:35449894A>G	uc010mko.3	+	10		c.1304A>G			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		GAATAAGCCAACCTGCAACCT	0.433000														3			17		0	0	0.004007	0	0
SLC10A5	347051	broad.mit.edu	37	8	82607038	82607038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:82607038G>A	uc011lfs.2	-	0	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	57						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGGTGGCTGGAATTAGGCCG	0.353000														72			32		0	0	0.002096	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:108690227G>A	uc003dxl.3	-	24	2587	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_uc011bhn.2_Missense_Mutation_p.P813S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					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						TGATGCTCAGGAAAAAAATAC	0.403000														48			29		0	0	0.006320	0	0
NOL4	8715	broad.mit.edu	37	18	31684052	31684052	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31684052T>C	uc010dmi.3	-	3	896	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	NOL4_uc002kxr.4_Missense_Mutation_p.K36E|NOL4_uc010xbt.2_Missense_Mutation_p.K126E|NOL4_uc010dmh.3_Missense_Mutation_p.K126E|NOL4_uc010xbu.2_Missense_Mutation_p.K200E|NOL4_uc002kxt.4_Missense_Mutation_p.K200E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	200						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTCATGTGTTTCATGTAGGCC	0.363000														67			31		0	0	0.002836	0	0
OR8A1	390275	broad.mit.edu	37	11	124440223	124440223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:124440223G>A	uc010san.2	+	0	259	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTCACTCATGGATCTCTGCTA	0.488000														11			42		0	0	0.003610	0	0
ASGR2	433	broad.mit.edu	37	17	7017517	7017517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:7017517C>T	uc002gep.3	-	1	310	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	ASGR2_uc002gen.1_Missense_Mutation_p.E15K|ASGR2_uc002geo.2_Missense_Mutation_p.E15K|ASGR2_uc002geq.3_Missense_Mutation_p.E15K|ASGR2_uc002ger.3_Missense_Mutation_p.E15K|ASGR2_uc010clw.2_Missense_Mutation_p.E15K|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	15					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TGGTCATTTTCCTCCGAGCTC	0.572000														64			30		0	0	0.002445	0	0
SPAG5	10615	broad.mit.edu	37	17	26939359	26939359	+	Silent	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:26939359C>A	uc010crq.2	-	5	605	c.573G>T	c.(571-573)ctG>ctT	p.L191L	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Silent_p.L191L	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	980					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AAAGGGAGTACAGATCTGTGC	0.517000														15			19		5.35267e-07	6.82546e-07	0.007413	1	0
SEMA3E	9723	broad.mit.edu	37	7	83029425	83029425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:83029425C>T	uc003uhy.2	-	10	1906	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	SEMA3E_uc022agy.1_Missense_Mutation_p.G369R	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	429	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTATATTTTCCATCTGTTTTT	0.403000														120			84		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149490679	149490679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:149490679G>A	uc010lpk.3	+	39	6044	c.6044G>A	c.(6043-6045)gGa>gAa	p.G2015E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2018	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGGGACGGGAGAATCATGC	0.637000														87			51		0	0	0.003610	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:171178045C>T	uc001ghk.1	+	8	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_uc010pmd.1_Missense_Mutation_p.P237S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	457					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000														18			234		0	0	0.003610	0	0
OR4E2	26686	broad.mit.edu	37	14	22133417	22133417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:22133417G>A	uc010tmd.2	+	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AACGCTTTCAGGGAACATTCT	0.433000														167			161		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10216538	10216538	+	Missense_Mutation	SNP	G	T	T	rs62060459		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10216538G>T	uc002gmk.1	-	29	4208	c.4118C>A	c.(4117-4119)gCc>gAc	p.A1373D		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1373					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCCACTGGGCAACCTCACT	0.637000														136			46		1.02067e-35	1.33218e-35	0.003610	1	0
YPEL3	83719	broad.mit.edu	37	16	30104120	30104120	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30104120C>T	uc002dwl.3	-	4	1103	c.385_splice	c.e4-1	p.E129_splice	BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Splice_Site_p.E91_splice	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	91						nucleolus				endometrium(1)|lung(2)	3						AAGGCCTGTTCCTGAAAGGAG	0.552000											OREG0023730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			38		0	0	0.006999	0	0
PON1	5444	broad.mit.edu	37	7	94991760	94991760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:94991760G>A	uc003unt.3	-	7	845	c.820C>T	c.(820-822)Cct>Tct	p.P274S	PON1_uc011kih.2_Intron	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	275					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CCTGTGGCAGGATCGACAGTC	0.463000														62			35		0	0	0.004878	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668235	160668235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:160668235G>A	uc003qtf.3	-	4	1112	c.938C>T	c.(937-939)tCt>tTt	p.S313F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	313					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.S313P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGCGGGTAGAGATTTTCCATT	0.483000														4			50		0	0	0.003610	0	0
KIF16B	55614	broad.mit.edu	37	20	16486750	16486750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:16486750G>A	uc002wpg.2	-	7	944	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KIF16B_uc010gch.2_Missense_Mutation_p.T262I|KIF16B_uc010gci.2_Missense_Mutation_p.T262I|KIF16B_uc010gcj.2_Missense_Mutation_p.T262I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	262	Kinesin-motor.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.A261A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGTGGCTCCGGTGGCATCTGC	0.488000														95			81		0	0	0.003610	0	0
NUP54	53371	broad.mit.edu	37	4	77045902	77045902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:77045902G>A	uc003hjs.3	-	8	1192	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	NUP54_uc010ije.3_Missense_Mutation_p.S73F|NUP54_uc011cbs.2_Missense_Mutation_p.S175F|NUP54_uc011cbt.2_Missense_Mutation_p.S307F|NUP54_uc003hjt.3_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	355	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATATCTTCAGATATGATCTG	0.343000														27			8		0	0	0.003080	0	0
PTPRA	5786	broad.mit.edu	37	20	3003388	3003388	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:3003388T>G	uc010zqd.2	+	14	1732	c.1415T>G	c.(1414-1416)aTg>aGg	p.M472R	PTPRA_uc002whj.3_Missense_Mutation_p.M461R|PTPRA_uc002whk.3_Missense_Mutation_p.M452R|PTPRA_uc002whl.3_Missense_Mutation_p.M452R|PTPRA_uc002whm.3_Missense_Mutation_p.M228R|PTPRA_uc002whn.3_Missense_Mutation_p.M452R|PTPRA_uc002who.3_Missense_Mutation_p.M124R	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	461	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGCTGGACATGATGCATACA	0.562000														32			42		0	0	0.002222	0	0
ALOX12B	242	broad.mit.edu	37	17	7989361	7989361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:7989361C>T	uc002gjy.1	-	1	586	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	109	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCAGGGTCTCGTAGCCATCC	0.607000										Multiple Myeloma(8;0.094)				69			23		0	0	0.005443	0	0
FMN2	56776	broad.mit.edu	37	1	240635710	240635710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240635710G>A	uc010pye.2	+	17	5336	c.5111G>A	c.(5110-5112)gGa>gAa	p.G1704E	FMN2_uc010pyd.2_Missense_Mutation_p.G1700E|FMN2_uc010pyg.2_Missense_Mutation_p.G296E|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1700					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)			CAGAAGAAAGGAAAATCACTT	0.318000														42			38		0	0	0.003610	0	0
GALNT13	114805	broad.mit.edu	37	2	155115593	155115593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:155115593G>A	uc002tyt.4	+	5	1021	c.917G>A	c.(916-918)gGa>gAa	p.G306E	GALNT13_uc002tyr.4_Missense_Mutation_p.G306E|GALNT13_uc010foc.1_Missense_Mutation_p.G125E|GALNT13_uc010fod.3_Missense_Mutation_p.G59E	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	306	Catalytic subdomain B.					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						GAAGAGATAGGAACTTACGAT	0.333000														54			55		0	0	0.003610	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573850	90573850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:90573850C>T	uc003pnr.3	+	6	2618	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P808S|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P808S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	808					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GCCTTGCTTACCTAAAGAGAC	0.398000														10			73		0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121712685	121712685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121712685G>A	uc003ees.3	-	6	1114	c.911C>T	c.(910-912)cCt>cTt	p.P304L	ILDR1_uc003eeq.3_Missense_Mutation_p.P272L|ILDR1_uc003eer.3_Missense_Mutation_p.P260L|ILDR1_uc010hrg.3_Missense_Mutation_p.P215L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	304						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTTGAGGTCAGGGGGCAGAGG	0.582000														47			42		0	0	0.008740	0	0
ATXN2	6311	broad.mit.edu	37	12	111990718	111990718	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:111990718T>C	uc001tsj.3	-	3	1054	c.892A>G	c.(892-894)Agt>Ggt	p.S298G	ATXN2_uc001tsh.3_Missense_Mutation_p.S33G|ATXN2_uc001tsi.3_Intron|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.S33G	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	298					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACCTTCGGACTGTAAGTTTTA	0.269000														12			28		0	0	0.005443	0	0
ZNF304	57343	broad.mit.edu	37	19	57868434	57868434	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:57868434C>T	uc010etw.3	+	3	1726	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	ZNF304_uc010ygw.2_Silent_p.F399F|ZNF304_uc010etx.3_Silent_p.F357F	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGGAAAATTCTTTAGCCAAA	0.428000														21			24		0	0	0.003330	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704373	60704373	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:60704373C>A	uc001nqi.3	+	10	3262	c.3069C>A	c.(3067-3069)agC>agA	p.S1023R	TMEM132A_uc001nqj.3_Missense_Mutation_p.S1022R	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	1022	Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCCGGGGCAGCTCCTGACCCT	0.652000														19			20		1.64113e-05	2.08511e-05	0.001523	1	0
DNAH7	56171	broad.mit.edu	37	2	196722348	196722348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:196722348G>A	uc002utj.4	-	43	8268	c.8167C>T	c.(8167-8169)Cct>Tct	p.P2723S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2723	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTGGGTCAGGGATTTTGTCA	0.428000														35			29		0	0	0.005443	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66768134	66768135	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:66768134_66768135CC>TT	uc002eqb.1	-	5	810_811	c.779_780GG>AA	c.(778-780)agg>aAA	p.R260K	DYNC1LI2_uc010vis.1_Missense_Mutation_p.R183K|DYNC1LI2_uc010vit.2_Missense_Mutation_p.R260K|DYNC1LI2_uc010viu.2_Missense_Mutation_p.R221K	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	260					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	p.R259W(1)		central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GAAGGCAGAACCTCCGCAGGTG	0.535000														32			21		0	0	0.004672	0	0
OR52A1	23538	broad.mit.edu	37	11	5172742	5172742	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5172742G>A	uc010qyy.2	-	0	858	c.858C>T	c.(856-858)gtC>gtT	p.V286V		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	286					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGGAGGGACCAGCAAGT	0.403000														45			65		0	0	0.003610	0	0
BRS3	680	broad.mit.edu	37	X	135572629	135572629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:135572629C>T	uc004ezv.1	+	1	921	c.772C>T	c.(772-774)Cat>Tat	p.H258Y		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	258					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GGAACAAAGCCATGCCCGTAA	0.383000														1			18		0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113277716	113277716	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:113277716C>T	uc003ynu.3	-	59	9771	c.9612G>A	c.(9610-9612)acG>acA	p.T3204T	CSMD3_uc003yns.3_Silent_p.T2406T|CSMD3_uc003ynt.3_Silent_p.T3164T|CSMD3_uc011lhx.2_Silent_p.T3035T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3204	Sushi 24.					integral to membrane|plasma membrane		p.T3204T(2)|p.T3164T(1)		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						TCAATTCCATCGTGTAGCCTG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				79			32		0	0	0.002836	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187870	102187870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:102187870C>T	uc003dvt.1	+	7	972	c.872C>T	c.(871-873)tCt>tTt	p.S291F	ZPLD1_uc003dvs.1_Missense_Mutation_p.S275F|ZPLD1_uc011bhg.1_Missense_Mutation_p.S275F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	275	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGCCGGTTTTCTTTTGAAGTG	0.488000														40			30		0	0	0.001786	0	0
ACTL9	284382	broad.mit.edu	37	19	8808605	8808605	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:8808605G>A	uc002mkl.2	-	0	568	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	149						cytoplasm|cytoskeleton				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						AGGGTGGGTCGGAGAACAGCA	0.682000														67			23		0	0	0.005443	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131625	142131625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142131625G>A	uc010lnz.1	-	1	174	c.130C>T	c.(130-132)Cct>Tct	p.P44S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAGACTTAGGAGAGCATCTC	0.527000														100			63		0	0	0.003610	0	0
WDR43	23160	broad.mit.edu	37	2	29164408	29164408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:29164408C>T	uc002rmo.2	+	14	1734	c.1702C>T	c.(1702-1704)Ctt>Ttt	p.L568F		NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	568						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTTTCACACCTTCATGGAAA	0.393000														22			11		0	0	0.008291	0	0
FLAD1	80308	broad.mit.edu	37	1	154960824	154960824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154960824G>A	uc001fgf.2	+	1	1017	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	FLAD1_uc001fgc.3_Missense_Mutation_p.E107K|FLAD1_uc001fgd.2_Missense_Mutation_p.E206K|FLAD1_uc001fge.2_Missense_Mutation_p.E109K|FLAD1_uc001fgg.2_Missense_Mutation_p.E109K|FLAD1_uc021paj.1_Missense_Mutation_p.E107K|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	206					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.E206E(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCAAGTTGGAAGCAGCCAC	0.582000														80			58		0	0	0.003610	0	0
ATP8A2	51761	broad.mit.edu	37	13	26117518	26117518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:26117518G>A	uc001uqk.3	+	9	1011	c.869G>A	c.(868-870)gGa>gAa	p.G290E	ATP8A2_uc010tdi.2_Missense_Mutation_p.G250E|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.G250E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	250					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)		GTTTATACTGGACACGACACC	0.378000														162			49		0	0	0.003610	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001633	41001633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:41001633G>A	uc003opi.3	-	2	772	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	UNC5CL_uc010jxe.1_Missense_Mutation_p.L225F	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	225	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGTGGGAGAGGTGGATGCGA	0.607000														34			51		0	0	0.003610	0	0
AOAH	313	broad.mit.edu	37	7	36588261	36588261	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:36588261C>A	uc022abu.1	-	14	1491	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	AOAH_uc003tfh.4_Missense_Mutation_p.A364S|AOAH_uc011kba.2_Missense_Mutation_p.A332S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	364					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.P363P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATAACGATGGCGGGATAGTCC	0.438000														68			17		8.28177e-16	1.07032e-15	0.007413	1	0
LRRC31	79782	broad.mit.edu	37	3	169574597	169574597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:169574597C>T	uc003fgc.1	-	3	616	c.551G>A	c.(550-552)gGa>gAa	p.G184E	LRRC31_uc010hwp.1_Missense_Mutation_p.G128E	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	184										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAAATTTCCTCCCACTTTACT	0.413000														56			42		0	0	0.007835	0	0
EVI5L	115704	broad.mit.edu	37	19	7913848	7913848	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7913848C>T	uc010xjz.2	+	2	416	c.369C>T	c.(367-369)atC>atT	p.I123I	EVI5L_uc002min.3_Silent_p.I123I|EVI5L_uc002mio.1_5'Flank	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	123	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCGGGCCATCGTGTGGCAGC	0.677000														8			23		0	0	0.006320	0	0
TBL1X	6907	broad.mit.edu	37	X	9660253	9660253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:9660253G>A	uc004csr.3	+	8	1337	c.850G>A	c.(850-852)Gac>Aac	p.D284N	TBL1X_uc004csq.4_Missense_Mutation_p.D233N|TBL1X_uc010ndr.3_Missense_Mutation_p.D233N|TBL1X_uc010ndq.3_Missense_Mutation_p.D284N|TBL1X_uc004css.3_Missense_Mutation_p.D235N	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	284					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GGGGGGCCATGACGTCCCGAG	0.537000														6			44		0	0	0.002852	0	0
GJD2	57369	broad.mit.edu	37	15	35045084	35045085	+	Missense_Mutation	DNP	GG	AA	AA	rs142736723		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:35045084_35045085GG>AA	uc001zis.1	-	1	560_561	c.560_561CC>TT	c.(559-561)tcc>tTT	p.S187F	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	187					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTCTGAGCTTGGATTTTGATGC	0.485000														83			77		0	0	0.004672	0	0
ZNF569	148266	broad.mit.edu	37	19	37903866	37903866	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:37903866A>G	uc002ogj.3	-	8	2698	c.1766T>C	c.(1765-1767)cTt>cCt	p.L589P	ZNF569_uc002ogh.3_Missense_Mutation_p.L406P|ZNF569_uc002ogi.3_Missense_Mutation_p.L565P	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTAAATTAAGCAGTGAGCA	0.403000														62			28		0	0	0.005443	0	0
MDN1	23195	broad.mit.edu	37	6	90402487	90402487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:90402487G>A	uc003pnn.1	-	62	10378	c.10262C>T	c.(10261-10263)tCa>tTa	p.S3421L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3421					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGTGGAGTGAGGTGTGGAG	0.582000														4			58		0	0	0.003610	0	0
CADM2	253559	broad.mit.edu	37	3	85984950	85984950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:85984950C>T	uc003dql.3	+	5	713	c.713C>T	c.(712-714)cCt>cTt	p.P238L	CADM2_uc003dqj.3_Missense_Mutation_p.P236L|CADM2_uc003dqk.3_Missense_Mutation_p.P245L|CADM2_uc003dqm.2_Missense_Mutation_p.P128L|CADM2_uc021xay.1_Missense_Mutation_p.P128L|CADM2_uc021xaz.1_Missense_Mutation_p.P128L|CADM2_uc021xba.1_Missense_Mutation_p.P128L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	236	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCATCGACTCCTTTTCCACAA	0.299000														108			72		0	0	0.003610	0	0
ZNF3	7551	broad.mit.edu	37	7	99669472	99669472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:99669472G>A	uc003uss.3	-	2	974	c.656C>T	c.(655-657)aCt>aTt	p.T219I	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.T212I|ZNF3_uc010lgj.3_Missense_Mutation_p.T176I|ZNF3_uc003usr.3_Missense_Mutation_p.T212I|ZNF3_uc003ust.4_Missense_Mutation_p.T212I			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	212					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T212I(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGGTCTGAAGTTCGATTAAA	0.458000														77			46		0	0	0.003214	0	0
TMEM109	79073	broad.mit.edu	37	11	60688446	60688446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:60688446C>T	uc001nqg.3	+	2	704	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	109						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGCTGAATGCCTTGGGACTA	0.532000														78			30		0	0	0.008361	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190680	39190680	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:39190680T>C	uc002hvv.3	-	0	428	c.394A>G	c.(394-396)Acc>Gcc	p.T132A		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	142						extracellular region|keratin filament	structural constituent of epidermis	p.T132I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCAGGTTGGGGGTGTG	0.672000														38			18		0	0	0.004990	0	0
CDH9	1007	broad.mit.edu	37	5	26903764	26903764	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:26903764C>T	uc003jgs.1	-	5	1150	c.981G>A	c.(979-981)ggG>ggA	p.G327G	CDH9_uc010iug.3_Silent_p.G327G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTTATAATCCCTTCCTGTG	0.408000														82			102		0	0	0.003610	0	0
PROKR1	10887	broad.mit.edu	37	2	68882139	68882139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:68882139G>A	uc010yqj.2	+	1	773	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	205						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCGAGACGGTCCTCGTCAT	0.547000														77			68		0	0	0.003610	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731763	94731763	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94731763A>G	uc001ycs.1	+	20	2391	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	746						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTGCCCAAGAACATCCCCATT	0.348000														39			27		0	0	0.004878	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953599	1953599	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:1953599G>A	uc021qsx.1	-	24	2670	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.F677F|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	813						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTTGAAGACGAAGCTGCCAG	0.642000														26			18		0	0	0.006122	0	0
ARPP21	10777	broad.mit.edu	37	3	35763126	35763126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:35763126C>T	uc011axy.2	+	11	1135	c.923C>T	c.(922-924)tCt>tTt	p.S308F	ARPP21_uc003cga.3_Missense_Mutation_p.S288F|ARPP21_uc003cgb.3_Missense_Mutation_p.S342F|ARPP21_uc003cgf.3_Missense_Mutation_p.S143F|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	342						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGAGAACATCTGGGAGTCGA	0.527000														3			14		0	0	0.004990	0	0
PRDM10	56980	broad.mit.edu	37	11	129817060	129817060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:129817060G>A	uc001qfm.3	-	4	732	c.500C>T	c.(499-501)cCc>cTc	p.P167L	PRDM10_uc001qfj.3_Missense_Mutation_p.P81L|PRDM10_uc001qfk.3_Missense_Mutation_p.P81L|PRDM10_uc001qfl.3_Missense_Mutation_p.P81L|PRDM10_uc010sbx.2_Missense_Mutation_p.P81L|PRDM10_uc001qfn.3_Missense_Mutation_p.P167L|PRDM10_uc009zct.1_Missense_Mutation_p.P199L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGGTCGAAGGGCCGGGGCGG	0.577000														78			19		0	0	0.003954	0	0
FER1L6	654463	broad.mit.edu	37	8	124982334	124982334	+	Silent	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:124982334C>A	uc003yqw.3	+	5	650	c.444C>A	c.(442-444)atC>atA	p.I148I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	148	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATCAAAATCTCCGTAAGTA	0.443000														53			24		3.73148e-12	4.79892e-12	0.007291	1	0
ABCC9	10060	broad.mit.edu	37	12	22013982	22013982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:22013982C>T	uc001rfh.3	-	18	2367	c.2347G>A	c.(2347-2349)Gct>Act	p.A783T	ABCC9_uc001rfi.1_Missense_Mutation_p.A783T	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	783	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTGACAGCTTTGTACCTT	0.328000														64			15		0	0	0.002450	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19127075	19127075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19127075G>A	uc002dfu.4	+	0	1822	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	ITPRIPL2_uc002dft.3_Missense_Mutation_p.G127E	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	431						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCACCTGGGAAGGTGTTTG	0.642000														132			109		0	0	0.003610	0	0
CDH18	1016	broad.mit.edu	37	5	19473751	19473751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:19473751C>T	uc003jgd.3	-	12	2491	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E653K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	653					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACGTTCTCCCGTACATCC	0.478000														133			164		0	0	0.003610	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935686	151935686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:151935686C>T	uc022chl.1	-	0	481	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	MAGEA3_uc004fgp.3_Missense_Mutation_p.V161I	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	161	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCAAAGACCAGCTGCAAG	0.542000														3			63		0	0	0.003610	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727819	18727819	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:18727819A>T	uc010ebu.1	+	4	658	c.571A>T	c.(571-573)Ata>Tta	p.I191L	TMEM59L_uc002njy.4_Missense_Mutation_p.I191L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	191						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GACTCAGCCCATAGTGGAGAG	0.662000														42			85		0	0	0.003610	0	0
IL37	27178	broad.mit.edu	37	2	113675337	113675337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:113675337C>T	uc002tij.3	+	3	433	c.391C>T	c.(391-393)Cca>Tca	p.P131S	IL37_uc002tim.3_Missense_Mutation_p.P70S|IL37_uc002tik.3_Missense_Mutation_p.P110S|IL37_uc002til.3_Missense_Mutation_p.P91S|IL37_uc002tin.3_Missense_Mutation_p.P105S	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	131					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ACAAAGTCATCCATCCCTTCA	0.507000														79			64		0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49690924	49690924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:49690924C>T	uc003cxe.4	+	4	4049	c.3935C>T	c.(3934-3936)aCc>aTc	p.T1312I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1312					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)		ACCCCTGGTACCAGTCCCACC	0.552000														10			48		0	0	0.003610	0	0
MMP1	4312	broad.mit.edu	37	11	102666008	102666008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:102666008G>A	uc001phi.2	-	5	939	c.796C>T	c.(796-798)Cct>Tct	p.P266S	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.P200S	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	266	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GGCTGGACAGGATTTTGGGAA	0.403000														3			13		0	0	0.002450	0	0
SMEK2	57223	broad.mit.edu	37	2	55804480	55804480	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:55804480C>A	uc002rzc.3	-	10	2269	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	SMEK2_uc002rzb.3_Missense_Mutation_p.G494V|SMEK2_uc002rzd.3_Missense_Mutation_p.G494V|SMEK2_uc002rza.3_Missense_Mutation_p.G370V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	526						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTGTTTGATCCAACtatatt	0.244000														24			23		2.70639e-06	3.44688e-06	0.002299	1	0
OR4K17	390436	broad.mit.edu	37	14	20586318	20586318	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20586318G>A	uc001vwo.1	+	0	753	c.753G>A	c.(751-753)ctG>ctA	p.L251L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTACAGTCTGATCCTCATAA	0.423000														63			58		0	0	0.003610	0	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:17211549G>A	uc002dfa.3	-	10	2596	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	837					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000														55			36		0	0	0.004878	0	0
PLCB4	5332	broad.mit.edu	37	20	9351894	9351894	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:9351894A>T	uc021wam.1	+	6	552	c.537A>T	c.(535-537)gaA>gaT	p.E179D	PLCB4_uc010gbw.1_Missense_Mutation_p.E179D|PLCB4_uc010gbx.3_Missense_Mutation_p.E179D|PLCB4_uc021wal.1_Missense_Mutation_p.E179D|PLCB4_uc002wnh.3_Missense_Mutation_p.E26D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	179					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			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						GAAAAACAGAAAAGGTGATCT	0.328000														63			66		0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29041250	29041250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:29041250G>A	uc002kws.3	+	7	983	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	292	Cadherin 3.				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)			TCAAGTAACAGATTTGGATGA	0.338000														34			18		0	0	0.007413	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037767	48037767	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:48037767T>A	uc003gxw.3	+	5	877	c.811T>A	c.(811-813)Tac>Aac	p.Y271N		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	271						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GAAGCCAGTTTACAAACATCC	0.413000														30			10		0	0	0.006214	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321007	154321007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154321007C>T	uc001fex.3	+	26	3386	c.3386C>T	c.(3385-3387)tCc>tTc	p.S1129F		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGGATCTCTCCGACACGGTG	0.617000														37			43		0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113163243	113163243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113163243G>A	uc010mtz.3	-	39	10050	c.9713C>T	c.(9712-9714)cCa>cTa	p.P3238L	SVEP1_uc010mty.3_Missense_Mutation_p.P1164L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3238	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAAGAAACTGGACTGCAAGA	0.383000														4			29		0	0	0.002836	0	0
UNC13C	440279	broad.mit.edu	37	15	54306605	54306605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:54306605C>T	uc021smr.1	+	0	1505	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	UNC13C_uc021sms.1_Missense_Mutation_p.S502L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	502					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCAGAATTTCAAATAAATCA	0.393000														34			36		0	0	0.002836	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749124	211749124	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:211749124A>C	uc001hio.1	-	1	1275	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	377					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCTTCCAGCAAGTTGCCAAAC	0.353000														7			73		0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39230811	39230811	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:39230811G>A	uc003cjk.2	-	1	355	c.126C>T	c.(124-126)ttC>ttT	p.F42F	XIRP1_uc003cji.3_Silent_p.F42F|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.F42F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	42	Interaction with VASP.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAACTTGGAGAAGGATTCCT	0.642000														2			32		0	0	0.004289	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645816	20645816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20645816C>T	uc001ytg.3	-	19	2969	c.2260G>A	c.(2260-2262)Ggc>Agc	p.G754S	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G754S|HERC2P3_uc010tyy.2_Missense_Mutation_p.G754S					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.C753C(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGAGGGTGCCGCACACCTGC	0.627000														12			7		0	0	0.001984	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855005	51855005	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:51855005T>C	uc001rys.1	+	8	1209	c.1031T>C	c.(1030-1032)tTg>tCg	p.L344S	SLC4A8_uc010sni.2_Missense_Mutation_p.L291S|SLC4A8_uc001rym.3_Missense_Mutation_p.L291S|SLC4A8_uc001ryn.3_Missense_Mutation_p.L291S|SLC4A8_uc001ryo.2_Missense_Mutation_p.L291S|SLC4A8_uc001ryp.1_Missense_Mutation_p.L291S|SLC4A8_uc010snj.2_Missense_Mutation_p.L371S|SLC4A8_uc001ryq.4_Missense_Mutation_p.L344S|SLC4A8_uc001ryr.3_Missense_Mutation_p.L344S|SLC4A8_uc010snk.2_Missense_Mutation_p.L291S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	344					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTATCTTATTGGGTCCAGTA	0.393000														450			27		0	0	0.001786	0	0
ILDR1	286676	broad.mit.edu	37	3	121712795	121712795	+	Silent	SNP	G	A	A	rs149548365	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121712795G>A	uc003ees.3	-	6	1004	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ILDR1_uc003eeq.3_Silent_p.L235L|ILDR1_uc003eer.3_Silent_p.L223L|ILDR1_uc010hrg.3_Silent_p.L178L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	267						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCATCTGCGGGAGGCTGGACG	0.512000														30			31		0	0	0.001786	0	0
FAT3	120114	broad.mit.edu	37	11	92087396	92087396	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:92087396G>A	uc001pdj.4	+	0	2135	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGGAAACTGAATCTGGAAG	0.403000										TCGA Ovarian(4;0.039)				185			282		0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958854	50958854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50958854G>A	uc002psf.2	+	19	2342	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	764	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AACAGGATCGGGGCAGGTGGC	0.612000														51			19		0	0	0.008871	0	0
ZNF496	84838	broad.mit.edu	37	1	247473035	247473035	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:247473035G>A	uc009xgv.3	-	5	1003	c.966C>T	c.(964-966)ctC>ctT	p.L322L	ZNF496_uc001ico.3_Silent_p.L286L|ZNF496_uc001icq.1_Silent_p.L61L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	286					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTTTGCCCTGGAGATCCTGCA	0.557000														43			26		0	0	0.006320	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														136			17		0	0	0.002836	0	0
CRX	1406	broad.mit.edu	37	19	48342936	48342936	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:48342936C>T	uc002phq.4	+	3	816	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	204					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGCTCTTCCCCCTCCGCCT	0.677000														33			69		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179665255	179665255	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179665255G>A	uc021vsy.1	-	3	675	c.450C>T	c.(448-450)ttC>ttT	p.F150F	TTN_uc021vsz.1_Silent_p.F150F|TTN_uc021vta.1_Silent_p.F150F|TTN_uc021vtb.1_Silent_p.F150F|TTN_uc002unb.2_Silent_p.F150F|TTN_uc002und.3_Silent_p.F150F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	150	Ig-like 2.						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)			GTGAAATTTGGAAATCAAGGG	0.488000														84			89		0	0	0.003610	0	0
PUS7L	83448	broad.mit.edu	37	12	44148738	44148738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:44148738C>T	uc001rns.4	-	1	391	c.311G>A	c.(310-312)gGt>gAt	p.G104D	PUS7L_uc001rnq.4_Missense_Mutation_p.G104D|PUS7L_uc001rnr.4_Missense_Mutation_p.G104D|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	104					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTTTCTGAACCAGACTGATG	0.353000														549			23		0	0	0.002780	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:107007411G>A	uc002tdp.3	+	2		c.260G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		ACAGAGGGACGATGTCCAAAA	0.448000														30			20		0	0	0.003954	0	0
NETO1	81832	broad.mit.edu	37	18	70526078	70526078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:70526078C>T	uc002lkw.3	-	3	736	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	NETO1_uc002lky.2_Missense_Mutation_p.R151Q|NETO1_uc002lkz.3_Missense_Mutation_p.R150Q	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	151	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAAATTGTATCGAGCTGAAAA	0.323000														2			48		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13777440	13777440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13777440C>T	uc003jfd.2	-	53	9018	c.8976G>A	c.(8974-8976)atG>atA	p.M2992I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2992	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGATCTTCCATCAGATTTG	0.328000									Kartagener syndrome					22			40		0	0	0.003610	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079655	128079655	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:128079655A>C	uc002toj.2	-	10	1112	c.1012T>G	c.(1012-1014)Ttg>Gtg	p.L338V		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	338					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)		ATTACGGTCAAAGTAGGATTG	0.378000														22			15		0	0	0.003163	0	0
NUP85	79902	broad.mit.edu	37	17	73222188	73222188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:73222188C>T	uc002jng.1	+	10	1290	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	NUP85_uc010wrv.1_Missense_Mutation_p.P298S|NUP85_uc002jnh.1_5'Flank	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	344					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGCCCAGAACCCCTGGACAA	0.527000														57			44		0	0	0.003610	0	0
SUPT3H	8464	broad.mit.edu	37	6	44929497	44929497	+	Silent	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:44929497T>C	uc003oxp.3	-	6	739	c.573A>G	c.(571-573)ttA>ttG	p.L191L	SUPT3H_uc003oxn.1_Silent_p.L191L|SUPT3H_uc003oxo.3_Silent_p.L202L|SUPT3H_uc011dvv.2_Silent_p.L39L|SUPT3H_uc011dvw.2_Silent_p.L105L	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	273					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TACAGAAACTTAATTGTCGAC	0.279000														66			102		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139618637	139618637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:139618637G>A	uc003yvd.3	-	57	4538	c.4091C>T	c.(4090-4092)cCc>cTc	p.P1364L	COL22A1_uc011ljo.2_Missense_Mutation_p.P644L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1364	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCCCACGGGGACCCAGGAA	0.552000										HNSCC(7;0.00092)				27			5		0	0	0.000602	0	0
OR5K3	403277	broad.mit.edu	37	3	98109668	98109668	+	Silent	SNP	A	G	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:98109668A>G	uc011bgw.2	+	0	159	c.159A>G	c.(157-159)caA>caG	p.Q53Q		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATATAGAGCAACGTCTTCACA	0.408000														126			103		0	0	0.003610	0	0
OR5M11	219487	broad.mit.edu	37	11	56310122	56310122	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:56310122G>A	uc010rjl.2	-	0	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGGAGAGGTTGAAGCCAGCAG	0.493000														40			17		0	0	0.006122	0	0
FNDC3B	64778	broad.mit.edu	37	3	172061988	172061988	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:172061988C>T	uc003fhy.3	+	18	2362	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V	FNDC3B_uc003fhz.4_Silent_p.V730V	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	730	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTGCACCGTCGGCAACCTGC	0.567000														100			80		0	0	0.003610	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697046	94697046	+	Silent	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94697046C>T	uc001ycs.1	+	3	571	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	139						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGTCATTCTCCTGCATCTGG	0.418000														70			64		0	0	0.003610	0	0
GLRB	2743	broad.mit.edu	37	4	157999217	157999217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:157999217C>T	uc003ipj.2	+	1	243	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GLRB_uc021xtp.1_Missense_Mutation_p.S14F|GLRB_uc021xtq.1_Missense_Mutation_p.S14F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	14					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATTTTAATTTCCTTGTGGGTG	0.338000														15			5		0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130318651	130318651	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:130318651G>A	uc010htl.3	+	18	4681	c.4650G>A	c.(4648-4650)aaG>aaA	p.K1550K	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1550	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGAAGAAAGACAGTAAGAG	0.542000														28			28		0	0	0.005443	0	0
GPR116	221395	broad.mit.edu	37	6	46874491	46874491	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:46874491G>A	uc003oyo.3	-	1	298	c.9C>T	c.(7-9)tcC>tcT	p.S3S	GPR116_uc003oyp.3_Silent_p.S3S|GPR116_uc003oyq.3_Silent_p.S3S|GPR116_uc003oyr.2_Silent_p.S3S|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	3					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCTCCTTGGGGATTTCATGT	0.368000														86			41		0	0	0.008740	0	0
MYEF2	50804	broad.mit.edu	37	15	48435142	48435143	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:48435142_48435143CC>TT	uc001zwi.4	-	16	1889_1890	c.1765_1766GG>AA	c.(1765-1767)ggc>AAc	p.G589N	MYEF2_uc001zwg.4_Missense_Mutation_p.G127N|MYEF2_uc001zwh.4_Missense_Mutation_p.G177N|MYEF2_uc001zwj.4_Missense_Mutation_p.G565N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	589	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATTTCTCTGCCACTGATTTTT	0.391000														60			38		0	0	0.004672	0	0
LATS2	26524	broad.mit.edu	37	13	21555718	21555718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:21555718C>T	uc009zzs.3	-	5	2917	c.2552G>A	c.(2551-2553)gGg>gAg	p.G851E	LATS2_uc001unr.4_Missense_Mutation_p.G851E	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	851	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CAGCCTGTCCCCACACCGACA	0.582000														33			14		0	0	0.001855	0	0
TBK1	29110	broad.mit.edu	37	12	64858153	64858153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:64858153C>T	uc001ssc.2	+	3	427	c.268C>T	c.(268-270)Cca>Tca	p.P90S		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	90	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GGAATTTTGTCCATGTGGGAG	0.308000														25			32		0	0	0.003271	0	0
POTEG	404785	broad.mit.edu	37	14	19553780	19553780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:19553780G>A	uc001vuz.1	+	0	416	c.364G>A	c.(364-366)Gac>Aac	p.D122N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	122										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCTTGGGGAGACTACGACGA	0.592000														723			41		0	0	0.003610	0	0
SSTR2	6752	broad.mit.edu	37	17	71166320	71166320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166320C>T	uc002jje.3	+	1	1222	c.862C>T	c.(862-864)Cca>Tca	p.P288S	SSTR2_uc021ucm.1_Missense_Mutation_p.P288S	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	288					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGCCCCACCCCAGCCCTTAA	0.502000														58			50		0	0	0.003610	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267785	125267785	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:125267785C>T	uc001qbu.3	+	6	729	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	PKNOX2_uc010saz.2_Nonsense_Mutation_p.Q110*|PKNOX2_uc010sba.2_Nonsense_Mutation_p.Q110*|PKNOX2_uc010sbb.2_Nonsense_Mutation_p.Q75*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	139						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAAGGCAATCCAGGTCCTGAG	0.557000														5			18		0	0	0.001523	0	0
DMD	1756	broad.mit.edu	37	X	31462745	31462745	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:31462745C>T	uc004dda.1	-	60	9182	c.8938_splice	c.e60-1	p.A2980_splice	DMD_uc004dcq.1_Splice_Site_p.A251_splice|DMD_uc004dcr.1_Splice_Site_p.A520_splice|DMD_uc004dcs.1_Splice_Site_p.A520_splice|DMD_uc004dct.1_Splice_Site_p.A520_splice|DMD_uc004dcu.1_Splice_Site_p.A520_splice|DMD_uc004dcv.1_Splice_Site_p.A520_splice|DMD_uc004dcw.2_Splice_Site_p.A1636_splice|DMD_uc004dcx.2_Splice_Site_p.A1639_splice|DMD_uc004dcz.2_Splice_Site_p.A2857_splice|DMD_uc004dcy.1_Splice_Site_p.A2976_splice|DMD_uc004ddb.1_Splice_Site_p.A2972_splice	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2980					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCGAAGTGCCTGTGTGCAAT	0.448000														6			43		0	0	0.003610	0	0
ABRA	137735	broad.mit.edu	37	8	107782177	107782177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:107782177G>A	uc003ymm.4	-	0	296	c.242C>T	c.(241-243)tCg>tTg	p.S81L		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	81					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	p.S81S(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCGGGGTGGCGACTTTGGGGC	0.557000														31			78		0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2976723	2976723	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:2976723T>C	uc003smv.3	-	8	1623	c.1289A>G	c.(1288-1290)aAc>aGc	p.N430S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	430					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCTCCAGGTTGACGATGCA	0.622000			Mis		DLBCL									46			31		0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179472789	179472789	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179472789G>A	uc021vsy.1	-	224	45246	c.45021C>T	c.(45019-45021)atC>atT	p.I15007I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I8702I|TTN_uc021vta.1_Silent_p.I8635I|TTN_uc021vtb.1_Silent_p.I8510I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15934							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)			TGACTCTTGGGATAGGTGGCC	0.423000														17			12		0	0	0.000978	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522189	113522189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:113522189G>A	uc010ljy.1	-	2	902	c.871C>T	c.(871-873)Cat>Tat	p.H291Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	291					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTCCTCATGAGAACAAATG	0.308000														56			22		0	0	0.002299	0	0
RXFP1	59350	broad.mit.edu	37	4	159533473	159533473	+	Silent	SNP	T	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:159533473T>A	uc003ipz.3	+	7	902	c.639T>A	c.(637-639)atT>atA	p.I213I	RXFP1_uc010iqj.2_Silent_p.I42I|RXFP1_uc010iqk.3_Silent_p.I81I|RXFP1_uc011cja.2_Silent_p.I132I|RXFP1_uc010iqo.3_Silent_p.I213I|RXFP1_uc011cjb.2_Silent_p.I159I|RXFP1_uc011cjc.2_Silent_p.I132I|RXFP1_uc011cjd.2_Silent_p.I132I|RXFP1_uc010iql.3_Silent_p.I81I|RXFP1_uc011cje.2_Silent_p.I240I|RXFP1_uc010iqm.3_Silent_p.I180I|RXFP1_uc011cjf.2_Silent_p.I83I|RXFP1_uc010iqn.3_Silent_p.I159I	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	213						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGTCGAATTTCCCCACCAA	0.279000														10			14		0	0	0.004007	0	0
FAM20A	54757	broad.mit.edu	37	17	66538260	66538260	+	Silent	SNP	C	T	T	rs150508189	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:66538260C>T	uc002jho.3	-	6	1263	c.975G>A	c.(973-975)acG>acA	p.T325T	FAM20A_uc010wqp.2_Silent_p.T187T|FAM20A_uc002jhn.3_Missense_Mutation_p.R28Q	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	325						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CAGCATACTCCGTCTTGCACA	0.607000														48			12		0	0	0.000978	0	0
GHR	2690	broad.mit.edu	37	5	42719270	42719270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42719270C>T	uc021xxv.1	+	9	1819	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	GHR_uc003jmt.3_Missense_Mutation_p.S554L|GHR_uc003jmu.3_Missense_Mutation_p.S554L|GHR_uc003jmv.2_Missense_Mutation_p.S554L|GHR_uc021xxw.1_Missense_Mutation_p.S554L|GHR_uc021xxx.1_Missense_Mutation_p.S554L|GHR_uc021xxy.1_Missense_Mutation_p.S554L|GHR_uc021xxz.1_Missense_Mutation_p.S554L|GHR_uc021xya.1_Missense_Mutation_p.S554L|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.S367L|GHR_uc021xyd.1_Missense_Mutation_p.S532L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	554					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGGTTGAATCACACATACAG	0.488000														35			16		0	0	0.004990	0	0
NCAM1	4684	broad.mit.edu	37	11	113102986	113102986	+	Silent	SNP	G	A	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:113102986G>A	uc021qqp.1	+	11	1779	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	NCAM1_uc001pnp.3_Silent_p.T433T|NCAM1_uc021qqo.1_Silent_p.T433T|NCAM1_uc001pnq.3_Silent_p.T443T|NCAM1_uc001pnr.3_Silent_p.T433T	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	445	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.P468P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGTGCCACGATCTCATGGT	0.547000														4			21		0	0	0.001523	0	0
APOB	338	broad.mit.edu	37	2	21235311	21235312	+	Frame_Shift_Ins	INS	-	T	T	rs121918389		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:21235311_21235312insT	uc002red.3	-	25	4556_4557	c.4428_4429insA	c.(4426-4431)aaacagfs	p.K1476fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1476					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)	AACAAATGCTGTTTCTTTTTGG	0.421													---	817	---	---	10	---					
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:64023941delT	uc003jtk.3	-	3	423	c.271delA	c.(271-273)aggfs	p.R91fs		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	Homo sapiens SREK1-interacting protein 1 (SREK1IP1), mRNA.	91	Lys-rich.				RNA splicing|mRNA processing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264													---	3	---	---	3	---					
AX747192	0	broad.mit.edu	37	11	63997567	63997567	+	Frame_Shift_Del	DEL	A	-	-	rs11364788		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:63997567delA	uc001nyr.1	-	0	1194	c.762delT	c.(760-762)tttfs	p.F254fs	DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank					Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																		GTGACTTGGGAAAAAAAAAAA	0.498													---	5	---	---	6	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573310	+	RNA	INS	-	CCC	CCC	rs66804813		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:9573309_9573310insCCC	uc021qut.1	-	10		c.2088_2089insGGG			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGAG	0.579													---	23	---	---	10	---					
KRT72	140807	broad.mit.edu	37	12	52979779	52979779	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:52979779delT	uc001sar.2	-	8	1609	c.1523delA	c.(1522-1524)aagfs	p.K508fs	KRT72_uc001saq.2_Frame_Shift_Del_p.K508fs|KRT72_uc010sns.1_Frame_Shift_Del_p.K466fs|KRT72_uc010snt.1_Frame_Shift_Del_p.K320fs	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	508	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCTGGAGGCCTTTTTGGTGGC	0.562													---	2218	---	---	9	---					
ZNF385A	25946	broad.mit.edu	37	12	54764789	54764789	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54764789delT	uc001sfy.3	-	5	811	c.756delA	c.(754-756)ccafs	p.P252fs	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Frame_Shift_Del_p.P232fs|ZNF385A_uc010sov.1_Frame_Shift_Del_p.P151fs|ZNF385A_uc001sfx.1_Frame_Shift_Del_p.P232fs|ZNF385A_uc001sfz.3_Frame_Shift_Del_p.P171fs	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGAGCCTCTGGTTCCCCCG	0.602													---	165	---	---	58	---					
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	GCCGCTGCT	GCCGCTGCT	rs72177573	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:124824721_124824722insGCCGCTGCT	uc021rga.1	-	36	5655_5656	c.5538_5539insAGCAGCGGC	c.(5536-5541)insAGCAGCGGC	p.1846_1847insSSG	NCOR2_uc021rgb.1_In_Frame_Ins_p.1830_1831insSSG|NCOR2_uc010tbb.2_In_Frame_Ins_p.1839_1840insSSG|NCOR2_uc010tbc.2_In_Frame_Ins_p.1829_1830insSSG|NCOR2_uc021rgc.1_In_Frame_Ins_p.1829_1830insSSG|NCOR2_uc010tba.2_In_Frame_Ins_p.1847_1848insSSG|NCOR2_uc010tax.2_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1850					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713													---	36	---	---	12	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:79176484_79176486delTGG	uc001vkv.3	-	1	558_560	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													---	4	---	---	2	---					
RNF219	79596	broad.mit.edu	37	13	79213018	79213018	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:79213018delT	uc001vkw.1	-	3	548	c.489delA	c.(487-489)aaafs	p.K163fs	RNF219_uc010afb.1_5'UTR	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	163							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)		CTGTTCTGAGTTTTTTCTTCC	0.338													---	48	---	---	86	---					
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	Splice_Site	DEL	AGA	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:100340123_100340125delAGA	uc010bow.2	-	4		c.699_splice	c.e4+1		DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript|DQ571121_uc021sxm.1_5'Flank|DQ590616_uc002bvp.3_5'Flank|DNM1P46_uc021sxn.1_Non-coding_Transcript|DNM1P46_uc010urz.1_Non-coding_Transcript|DQ595494_uc021sxo.1_Non-coding_Transcript|DQ575741_uc002bvt.1_5'Flank					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		AGCAGCTCCGAGAAGATGAACTC	0.611													---	22	---	---	7	---					
ZNF628	89887	broad.mit.edu	37	19	55993019	55993019	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55993019delC	uc021vbv.1	+	0	447	c.447delC	c.(445-447)tgcfs	p.C149fs	ZNF628_uc002qld.2_Frame_Shift_Del_p.C149fs	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	149						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCCGGACTGCCCCAAGGCCT	0.667													---	29	---	---	14	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	GGGGCGCAGCAGCTG	GGGGCGCAGCAGCTG	rs71199613		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													---	33	---	---	8	---					
