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
GTF2IRD1	9569	broad.mit.edu	37	7	73961534	73961534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73961534C>T	uc003uaq.3	+	16	2227	c.1834C>T	c.(1834-1836)Ctc>Ttc	p.L612F	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.L644F|GTF2IRD1_uc003uap.3_Missense_Mutation_p.L612F|GTF2IRD1_uc003uar.1_Missense_Mutation_p.L612F	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	612						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGCATCTCCCTCCGCAGGCC	0.587000														45			22		0	0	0.001882	0	0
KCNB2	9312	broad.mit.edu	37	8	73849858	73849858	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73849858C>A	uc003xzb.3	+	2	2856	c.2268C>A	c.(2266-2268)ctC>ctA	p.L756L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	756					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTACCATCCTCTTAGAAGAAA	0.607000														113			6		0.00307968	0.0048155	0.003080	1	0
C15orf53	400359	broad.mit.edu	37	15	38990407	38990407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38990407G>A	uc001zkf.1	+	1	211	c.201G>A	c.(199-201)tgG>tgA	p.W67*		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	67										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tcagggattggaatctgggAG	0.488000														24			22		0	0	0.003954	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133663997	133663997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:133663997G>A	uc003eqa.4	-	9	1677	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	SLCO2A1_uc011blv.2_Missense_Mutation_p.S287F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	468	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ATGGCAAGGGGAGAGGTACTC	0.582000														130			40		0	0	0.002222	0	0
OR4D11	219986	broad.mit.edu	37	11	59271107	59271107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59271107C>T	uc001noa.1	+	0	59	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTACTCAATCCCAAGACCAG	0.388000														43			16		0	0	0.003163	0	0
GCKR	2646	broad.mit.edu	37	2	27722064	27722064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27722064G>A	uc002rky.3	+	5	550	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GCKR_uc010ezd.3_Missense_Mutation_p.E162K|GCKR_uc010ylu.2_Intron	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	162	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CGGGATTGAGGAACTGAAGAA	0.512000														32			12		0	0	0.003163	0	0
HTR3E	285242	broad.mit.edu	37	3	183823756	183823756	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:183823756C>T	uc010hxr.3	+	5	1197	c.1003_splice	c.e5+1	p.G335_splice	HTR3E_uc010hxq.3_Splice_Site_p.G309_splice|HTR3E_uc003fml.4_Splice_Site_p.G294_splice|HTR3E_uc003fmm.3_Splice_Site_p.G324_splice|HTR3E_uc003fmn.3_Splice_Site_p.G309_splice	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	309						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCGGTATGGCTC	0.547000														111			43		0	0	0.003610	0	0
BAZ1A	11177	broad.mit.edu	37	14	35253105	35253105	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:35253105G>A	uc001wsk.3	-	14	2428	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	BAZ1A_uc001wsl.3_Silent_p.L588L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	620					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTTTCCACAGAGAGCATGGA	0.343000														41			18		0	0	0.006122	0	0
COL15A1	1306	broad.mit.edu	37	9	101748166	101748166	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101748166G>A	uc004azb.1	+	2	626	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	140	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.T139S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACTACACGGAGCCAGGCTCCC	0.602000														50			19		0	0	0.001216	0	0
ITGA9	3680	broad.mit.edu	37	3	37555332	37555332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:37555332C>T	uc003chd.3	+	8	1029	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	ITGA9_uc003chc.3_Missense_Mutation_p.P326S	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	326					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P326L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGTGGGGGCCCCCATGTTTTC	0.547000														58			17		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182667	140182667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140182667G>A	uc003lhf.2	+	0	1885	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G629R	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	640	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(1)		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)			GCTGTACACGGGAGAGATCAG	0.657000														54			22		0	0	0.002780	0	0
C10orf71	118461	broad.mit.edu	37	10	50531805	50531805	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50531805C>T	uc021pqb.1	+	0	1215	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	C10orf71_uc021pqa.1_Silent_p.N404N|C10orf71_uc021pqc.1_Silent_p.N405N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	405										endometrium(1)	1						CACAGACCAACCAGAGAGGCC	0.458000														66			18		0	0	0.007413	0	0
FLT3LG	2323	broad.mit.edu	37	19	49983820	49983820	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49983820C>T	uc002pnu.3	+	7	782	c.672C>T	c.(670-672)gtC>gtT	p.V224V	FLT3LG_uc002pnw.3_Silent_p.V142V|FLT3LG_uc010yau.2_Silent_p.V224V|FLT3LG_uc002pnv.3_Silent_p.V142V|FLT3LG_uc002pnx.3_Silent_p.V224V|FLT3LG_uc010yav.2_Silent_p.V142V	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	224					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		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;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TGCCCCCCGTCCCCAGTCCCC	0.667000														10			3		0	0	0.000248	0	0
HINT2	84681	broad.mit.edu	37	9	35813502	35813502	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35813502G>A	uc003zyh.3	-	2	333	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SPAG8_uc003zye.3_5'Flank|SPAG8_uc003zyg.3_5'Flank	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), nuclear gene encoding mitochondrial protein, mRNA.	89	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GAATGACCAGGAAGTGCACAG	0.567000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			13		0	0	0.001368	0	0
CDK20	23552	broad.mit.edu	37	9	90586150	90586150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:90586150C>T	uc004apr.3	-	2	624	c.290G>A	c.(289-291)aGg>aAg	p.R97K	CDK20_uc004aps.3_Missense_Mutation_p.R97K|CDK20_uc022bjj.1_Missense_Mutation_p.R97K|CDK20_uc004apt.3_Missense_Mutation_p.R110K|CDK20_uc004apu.3_Missense_Mutation_p.R97K	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	97	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCTAGTGGCCTCTGGGCATG	0.582000														16			6		0	0	0.003080	0	0
RPL15	6138	broad.mit.edu	37	3	23960057	23960057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:23960057C>T	uc003ccr.3	+	2	692	c.299C>T	c.(298-300)tCc>tTc	p.S100F	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.S100F|RPL15_uc011awj.2_Intron|RPL15_uc003ccn.3_Missense_Mutation_p.S100F|RPL15_uc003cco.3_Missense_Mutation_p.S100F|RPL15_uc003ccp.3_Missense_Mutation_p.S100F|RPL15_uc003ccq.3_Missense_Mutation_p.S100F|RPL15_uc021wub.1_Missense_Mutation_p.S100F	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AGCCTTCAGTCCGTTGCAGAG	0.483000														49			51		0	0	0.003610	0	0
NARF	26502	broad.mit.edu	37	17	80442739	80442739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80442739C>T	uc010dit.3	+	10	1159	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	NARF_uc002kff.4_Missense_Mutation_p.S236L|NARF_uc010wvp.1_3'UTR|NARF_uc002kfg.4_Missense_Mutation_p.S295L|NARF_uc002kfj.4_Missense_Mutation_p.S247L	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	295						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCCAGCTCAGACGGGCAC	0.537000														51			31		0	0	0.003271	0	0
PLB1	151056	broad.mit.edu	37	2	28828728	28828728	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:28828728C>T	uc002rmb.2	+	41	3014	c.2970C>T	c.(2968-2970)ctC>ctT	p.L990L	PLB1_uc010ezj.2_Silent_p.L979L|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	990	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGATGGGCTCCCAGATACGT	0.532000														146			54		0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290915	141290915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:141290915G>A	uc022cfj.1	-	0	859	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	MAGEC2_uc004fbu.2_Missense_Mutation_p.R287W	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	287	MAGE.					cytoplasm|nucleus		p.R287L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCTCCCGATACTCCAGG	0.502000										HNSCC(46;0.14)				31			22		0	0	0.001523	0	0
JAG2	3714	broad.mit.edu	37	14	105618331	105618332	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:105618331_105618332GG>AA	uc001yqg.3	-	6	1386_1387	c.982_983CC>TT	c.(982-984)cct>TTt	p.P328F	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P328F	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	328	EGF-like 3.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTACTGGTCAGGCTCGGCGTTG	0.653000														24			10		0	0	0.004672	0	0
DUOX2	50506	broad.mit.edu	37	15	45405245	45405245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45405245C>T	uc001zun.3	-	2	303	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	DUOX2_uc010bea.3_Missense_Mutation_p.E34K|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	34	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCTGCACTTCCCAGGGCAGT	0.657000														16			12		0	0	0.001855	0	0
CCNB3	85417	broad.mit.edu	37	X	50052425	50052425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50052425C>T	uc004dox.4	+	5	1554	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CCNB3_uc004doy.3_Missense_Mutation_p.S419F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	419					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGCCATTGTCCATTAAAGAA	0.473000														7			51		0	0	0.003610	0	0
ACAP1	9744	broad.mit.edu	37	17	7247255	7247255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7247255C>T	uc002ggd.2	+	7	855	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	217	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GTCCCAGTATCGAAAGGAGCT	0.652000														3			7		0	0	0.001984	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272495	11272495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:11272495C>T	uc021tcy.1	+	23	3340	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L	CLEC16A_uc002dao.3_Missense_Mutation_p.P1035L|CLEC16A_uc002dap.3_Missense_Mutation_p.P124L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	1037								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCACAGAGCCCGTGGGCGAA	0.692000														8			4		0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11584062	11584062	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11584062A>G	uc002gne.3	+	18	3667	c.3599A>G	c.(3598-3600)aAc>aGc	p.N1200S	DNAH9_uc010coo.3_Missense_Mutation_p.N494S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1200	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATGGAACAACATAAAAAAG	0.532000														25			14		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235949	140235949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140235949G>A	uc003lhx.2	+	0	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K	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_Missense_Mutation_p.E106K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E106K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	122	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)			CATCCACCTGGAGGTGATCGT	0.542000														207			32		0	0	0.002836	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446620	107446620	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:107446620T>C	uc002tdq.3	-	4	1339	c.1220A>G	c.(1219-1221)tAc>tGc	p.Y407C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.Y407C|ST6GAL2_uc002tds.3_Missense_Mutation_p.Y407C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	407					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATGAAGAATGTAAAATGGCTG	0.378000														60			23		0	0	0.001882	0	0
TOX2	84969	broad.mit.edu	37	20	42694442	42694442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42694442G>A	uc010ggo.3	+	6	1091	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S	TOX2_uc002xle.4_Missense_Mutation_p.G309S|TOX2_uc010ggp.3_Missense_Mutation_p.G309S|TOX2_uc002xlf.4_Missense_Mutation_p.G333S|TOX2_uc010zwk.2_Missense_Mutation_p.G229S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCATGCCAGGCCTGGCCTC	0.652000														96			103		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109689644	109689644	+	Missense_Mutation	SNP	C	T	T	rs149174145		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:109689644C>T	uc004bcz.3	+	2	3740	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P999S|ZNF462_uc004bda.3_Missense_Mutation_p.P999S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1151					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGACAGGCTCCTCCCACAGC	0.547000														41			30		0	0	0.001786	0	0
SCAND3	114821	broad.mit.edu	37	6	28543719	28543719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28543719C>T	uc003nlo.3	-	2	1381	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	255					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTTTCACTTCCTTTATCAAC	0.353000														117			21		0	0	0.001216	0	0
AGAP11	119385	broad.mit.edu	37	10	88769359	88769359	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88769359C>T	uc001kee.2	+	11	2554	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	450					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGAGCTGTCCCTGGGCCAGC	0.592000														89			38		0	0	0.006999	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54307284C>T	uc002qcj.4	-	5	2730	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	NLRP12_uc010eqw.3_Missense_Mutation_p.G119E|NLRP12_uc002qch.4_Missense_Mutation_p.G836E|NLRP12_uc002qci.4_Missense_Mutation_p.G836E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G837E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000														21			31		0	0	0.001786	0	0
IQCH	64799	broad.mit.edu	37	15	67571772	67571772	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:67571772C>T	uc002aqo.2	+	3	406	c.309C>T	c.(307-309)ttC>ttT	p.F103F	IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron|IQCH_uc002aqm.3_Silent_p.F103F	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	103										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATTTATTTTCCCTCAGGAAT	0.343000														48			9		0	0	0.000673	0	0
STARD8	9754	broad.mit.edu	37	X	67937559	67937560	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:67937559_67937560GT>AA	uc004dxb.3	+	5	1017_1018	c.803_804GT>AA	c.(802-804)ggt>gAA	p.G268E	STARD8_uc004dxa.3_Missense_Mutation_p.G188E|STARD8_uc004dxc.4_Missense_Mutation_p.G188E	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	188					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCTCAGCCGGTGGCAGTGGTG	0.609000														9			5		0	0	0.004672	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559563	140559563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140559563G>A	uc011dai.2	+	0	2193	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	650	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGTG	0.706000														20			30		0	0	0.002222	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507873	233507873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233507873C>T	uc001hvt.4	+	5	1903	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	KIAA1804_uc001hvs.1_Missense_Mutation_p.P548S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	548					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCCGAGCAGCCCCACAATGAT	0.567000														71			15		0	0	0.002450	0	0
RLTPR	146206	broad.mit.edu	37	16	67682024	67682024	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67682024C>T	uc002etn.3	+	13	1261	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	RLTPR_uc010cel.1_Silent_p.L381L|RLTPR_uc010vjr.2_Silent_p.L381L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	381										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)		CGACACTGCCCTGGACACTGT	0.672000														19			4		0	0	0.000602	0	0
THPO	7066	broad.mit.edu	37	3	184091368	184091368	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184091368C>T	uc003fol.1	-	4	446	c.231G>A	c.(229-231)gaG>gaA	p.E77E	THPO_uc003fom.2_Silent_p.E77E|THPO_uc021xii.1_Silent_p.E77E|THPO_uc003fon.3_Silent_p.E77E|THPO_uc011bro.2_Silent_p.E77E|THPO_uc003fop.3_Silent_p.E77E|THPO_uc011brp.2_Silent_p.E77E|THPO_uc011brq.2_Silent_p.E77E|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Silent_p.E77E|THPO_uc003fou.1_Silent_p.E77E	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	77					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTGGTCTCCTCCTGAGAAA	0.572000														15			3		0	0	0.004672	0	0
PASD1	139135	broad.mit.edu	37	X	150828184	150828184	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150828184G>A	uc004fev.4	+	10	1050	c.718_splice	c.e10-1	p.D240_splice		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	240						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATGTACAGGACCAAATTG	0.368000														26			18		0	0	0.001216	0	0
MYOM3	127294	broad.mit.edu	37	1	24406641	24406641	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:24406641G>A	uc001bin.4	-	19	2614	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	MYOM3_uc001bim.4_Silent_p.S474S|MYOM3_uc001bio.3_Silent_p.S817S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	817	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCAGCACCAGGGATGTGGCCC	0.622000														16			10		0	0	0.001368	0	0
CSF1	1435	broad.mit.edu	37	1	110466588	110466588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110466588C>T	uc001dyu.2	+	5	1758	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.R449W|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	449					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.R449L(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCAGGGATCGGAGGAGCCC	0.647000														25			25		0	0	0.004656	0	0
CLEC2B	9976	broad.mit.edu	37	12	10005967	10005967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10005967C>T	uc001qwn.3	-	4	1039	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	128	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCACCATCATCGCTGAGGTAG	0.418000														40			10		0	0	0.001368	0	0
LINC00336	401253	broad.mit.edu	37	6	33561001	33561001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33561001G>A	uc003oew.1	-	0	115	c.113C>T	c.(112-114)cCt>cTt	p.P38L						Homo sapiens long intergenic non-protein coding RNA 336 (LINC00336), non-coding RNA.																		GGAACCAAGAGGTTGGCACCG	0.721000														10			7		0	0	0.003080	0	0
GJA10	84694	broad.mit.edu	37	6	90604271	90604271	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:90604271C>T	uc011eaa.2	+	0	84	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	28					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T27N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGCTGACCATCCTCTTCATCT	0.512000														14			32		0	0	0.002445	0	0
GPI	2821	broad.mit.edu	37	19	34856261	34856261	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34856261C>T	uc002nvf.3	+	1	377	c.207C>T	c.(205-207)ttC>ttT	p.F69F	GPI_uc010xrv.2_Silent_p.F69F|GPI_uc002nvg.2_Silent_p.F30F|GPI_uc010xrw.2_Silent_p.F30F|GPI_uc002nvh.1_Nonsense_Mutation_p.R16*	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	30					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCCGCCTCTTCGATGCCAACA	0.716000														23			5		0	0	0.001168	0	0
CACNA1E	777	broad.mit.edu	37	1	181620538	181620538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181620538C>T	uc009wxt.3	+	6	1211	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	CACNA1E_uc001gow.3_Missense_Mutation_p.S339F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S339F|CACNA1E_uc009wxr.3_Missense_Mutation_p.S246F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	339					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCATTGGATCCTTCTTTGTT	0.433000														109			28		0	0	0.002096	0	0
FRY	10129	broad.mit.edu	37	13	32841337	32841337	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32841337C>T	uc001utx.3	+	54	8473	c.7977C>T	c.(7975-7977)ccC>ccT	p.P2659P	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.P184P|FRY_uc010tdx.2_Silent_p.P29P	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGTCTCTCCCCCTCCCTCGC	0.522000														53			28		0	0	0.002096	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808219	8808219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:8808219G>A	uc002glt.3	-	4	354	c.287C>T	c.(286-288)cCa>cTa	p.P96L	PIK3R5_uc010vuz.2_Missense_Mutation_p.P96L|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	96	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGAGTCTGGTGGGAAGTGTGG	0.547000														32			37		0	0	0.002222	0	0
TSKS	60385	broad.mit.edu	37	19	50249871	50249871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50249871G>A	uc002ppm.3	-	5	859	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	283							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGGCGGGCCGGGGCAGCCCTG	0.741000														21			7		0	0	0.001984	0	0
CSF1R	1436	broad.mit.edu	37	5	149459766	149459766	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149459766G>A	uc003lrl.3	-	2	636	c.441C>T	c.(439-441)ccC>ccT	p.P147P	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.P147P|CSF1R_uc011dce.1_Silent_p.P147P|CSF1R_uc011dcf.2_Silent_p.P147P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	147	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCGCATGAGGGGCCGGCCAC	0.617000														47			4		0	0	0.000602	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680342	18680342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:18680342C>T	uc003zne.4	+	10	1321	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	ADAMTSL1_uc003znb.3_Missense_Mutation_p.S373F|ADAMTSL1_uc003znc.4_Missense_Mutation_p.S390F	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	390	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCGTGCTCCTCCTCGTGTGGG	0.597000														7			8		0	0	0.000673	0	0
PRB1	5542	broad.mit.edu	37	12	11506223	11506223	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11506223G>T	uc001qzw.1	-	3	848	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	PRB1_uc001qzu.1_Missense_Mutation_p.Q139K|PRB1_uc001qzv.1_Missense_Mutation_p.Q119K	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	333	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).	R -> Q (in Ref. 6; AAB27288).		extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CGGGCACTTTGGGACTTGCTG	0.592000														350			8		0.00621372	0.00971115	0.006214	1	0
AC2	0	broad.mit.edu	37	1	151992775	151992775	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151992775G>A	uc001ezm.1	+	8		c.2440G>A								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		ATTCAAGGACGAGAAGCTTGC	0.537000														212			28		0	0	0.002445	0	0
PKP4	8502	broad.mit.edu	37	2	159530252	159530253	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:159530252_159530253CC>TT	uc002tzv.3	+	17	3248_3249	c.2988_2989CC>TT	c.(2986-2991)gacctc>gaTTtc	p.L997F	PKP4_uc002tzw.3_Missense_Mutation_p.L997F|PKP4_uc002tzx.3_Missense_Mutation_p.L654F|PKP4_uc002uaa.3_Missense_Mutation_p.L849F|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Missense_Mutation_p.L178F|PKP4_uc002uae.1_Missense_Mutation_p.L84F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	997					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AATATCGGGACCTCCGGAGCAT	0.396000										HNSCC(62;0.18)				18			14		0	0	0.004672	0	0
BEST3	144453	broad.mit.edu	37	12	70065290	70065290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70065290C>T	uc001svg.3	-	8	1245	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	BEST3_uc001svd.2_Missense_Mutation_p.D340N|BEST3_uc001svf.3_Missense_Mutation_p.D127N|BEST3_uc010stm.2_Missense_Mutation_p.D234N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	340						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGCAGAATCGTCCCAGTAA	0.428000														190			21		0	0	0.001523	0	0
MARCO	8685	broad.mit.edu	37	2	119748191	119748191	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:119748191G>C	uc002tln.1	+	12	1222	c.1090G>C	c.(1090-1092)Gga>Cga	p.G364R	MARCO_uc010yyf.1_Missense_Mutation_p.G286R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	364	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGAAGAAAAGGAGAATCAGG	0.458000														33			15		0	0	0.001216	0	0
GNAS	2778	broad.mit.edu	37	20	57415767	57415767	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:57415767G>A	uc021wfl.1	+	0	973	c.606G>A	c.(604-606)agG>agA	p.R202R	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.R202R|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	326					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(266)|p.R201H(92)|p.R201S(7)|p.R201L(2)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGATCCAAGGGACCCCGAAG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				23			5		0	0	0.000602	0	0
IDH3G	3421	broad.mit.edu	37	X	153056285	153056285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:153056285G>A	uc004fip.3	-	1	289	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	IDH3G_uc004fiq.3_Missense_Mutation_p.P35S|IDH3G_uc004fit.1_Missense_Mutation_p.P35S	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TTCCTCGAGGGGACCTCGTGG	0.567000														5			27		0	0	0.007291	0	0
KIAA1211	57482	broad.mit.edu	37	4	57164435	57164435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:57164435C>T	uc003hbk.2	+	3	431	c.40C>T	c.(40-42)Cct>Tct	p.P14S	KIAA1211_uc010iha.2_5'UTR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	14										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TATTTTTATCCCTGATGGGGG	0.428000														21			11		0	0	0.000673	0	0
EIF3B	8662	broad.mit.edu	37	7	2402736	2402736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:2402736C>T	uc003slx.3	+	3	927	c.844C>T	c.(844-846)Cca>Tca	p.P282S	EIF3B_uc003sly.3_Missense_Mutation_p.P282S|EIF3B_uc003slz.1_Missense_Mutation_p.P243S|EIF3B_uc003sma.3_Missense_Mutation_p.P10S	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	282	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGGATATTCCAGAGAAACA	0.522000														231			93		0	0	0.003610	0	0
FOXN1	8456	broad.mit.edu	37	17	26856199	26856199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26856199G>A	uc010crm.3	+	4	985	c.787G>A	c.(787-789)Gat>Aat	p.D263N	FOXN1_uc002hbj.3_Missense_Mutation_p.D263N	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	263					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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	p.D263G(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCCAGCACCGATGGGCACCA	0.597000														57			22		0	0	0.006320	0	0
POF1B	79983	broad.mit.edu	37	X	84569509	84569509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:84569509C>T	uc004eer.2	-	8	1032	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	POF1B_uc004ees.3_Missense_Mutation_p.E296K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	296			E -> A (in dbSNP:rs363751).				actin binding	p.S295S(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCAATGTCTTCCGACTGTAAG	0.368000														0			16		0	0	0.006122	0	0
GTF2I	2969	broad.mit.edu	37	7	74146890	74146890	+	Silent	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:74146890T>A	uc003uau.3	+	14	1561	c.1191T>A	c.(1189-1191)ctT>ctA	p.L397L	GTF2I_uc003uav.3_Silent_p.L376L|GTF2I_uc003uaw.3_Silent_p.L377L|GTF2I_uc003uay.3_Silent_p.L375L|GTF2I_uc003uax.3_Silent_p.L356L	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	397					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAGATCTTTATGTAGAAG	0.423000														58			70		0	0	0.003610	0	0
FAM120A	23196	broad.mit.edu	37	9	96261096	96261096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96261096C>T	uc004atw.3	+	4	983	c.958C>T	c.(958-960)Cga>Tga	p.R320*	FAM120A_uc004atv.3_Nonsense_Mutation_p.R320*|FAM120A_uc004atx.3_Nonsense_Mutation_p.R102*|FAM120A_uc004aty.3_Nonsense_Mutation_p.R102*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	320						cytoplasm|plasma membrane	RNA binding	p.R320L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAAGTTATTCGATTTAAGAG	0.333000														65			47		0	0	0.003610	0	0
CUL4B	8450	broad.mit.edu	37	X	119680416	119680416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:119680416G>A	uc004esw.3	-	5	1323	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	CUL4B_uc010nqq.3_5'UTR|CUL4B_uc004esv.3_Missense_Mutation_p.H278Y	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	296					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTCTGCAATGGTTTTGCCAG	0.303000														20			17		0	0	0.001216	0	0
IL1R1	3554	broad.mit.edu	37	2	102782592	102782592	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:102782592T>G	uc002tbq.3	+	5	824	c.506T>G	c.(505-507)cTt>cGt	p.L169R	IL1R1_uc010fix.3_Missense_Mutation_p.L169R|IL1R1_uc002tbr.3_Missense_Mutation_p.L169R	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	169	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CCTCTACTTCTTGACAATATA	0.398000														17			23		0	0	0.003330	0	0
KCNA6	3742	broad.mit.edu	37	12	4920740	4920740	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920740C>T	uc001qng.3	+	0	2399	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	KCNA6_uc021qtr.1_Silent_p.S511S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	511						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						GGAGACCCAGCTACCTTCCTA	0.612000										HNSCC(72;0.22)				15			29		0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61932885	61932885	+	Silent	SNP	G	A	A	rs150715672		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61932885G>A	uc001jky.3	-	18	2582	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Silent_p.F731F|ANK3_uc001jkz.4_Silent_p.F742F|ANK3_uc001jlb.1_Silent_p.F277F|ANK3_uc001jlc.1_Silent_p.F409F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	748					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.F748F(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGGAGCAGGAAATTAACAA	0.338000														10			19		0	0	0.001882	0	0
SV2B	9899	broad.mit.edu	37	15	91811704	91811704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:91811704G>A	uc002bqv.3	+	9	2133	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	SV2B_uc002bqt.3_Missense_Mutation_p.M414I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.M263I	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	414					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCCTGATATGATCCGCTATT	0.413000														325			254		0	0	0.003610	0	0
IGFN1	91156	broad.mit.edu	37	1	201186446	201186446	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201186446C>T	uc001gwc.3	+	16	9757	c.9627C>T	c.(9625-9627)atC>atT	p.I3209I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGCCAGCCATCCTGTCGGCCT	0.662000														61			19		0	0	0.001523	0	0
SCN11A	11280	broad.mit.edu	37	3	38968311	38968311	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38968311G>A	uc021wvy.1	-	3	799	c.600C>T	c.(598-600)tcC>tcT	p.S200S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	200					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAATGACAATGGAGTCCAGCC	0.398000														121			27		0	0	0.006320	0	0
PRDM9	56979	broad.mit.edu	37	5	23527689	23527689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:23527689C>T	uc003jgo.3	+	10	2674	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	831					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						GGGGAGAAGCCCTATGTCTGC	0.587000										HNSCC(3;0.000094)				99			27		0	0	0.007291	0	0
TTC40	54777	broad.mit.edu	37	10	134755113	134755113	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:134755113C>T	uc021qbc.1	-	2	389	c.288G>A	c.(286-288)ccG>ccA	p.P96P	TTC40_uc001llt.2_Silent_p.P96P|TTC40_uc001llu.3_Silent_p.P96P	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCCGACTTCGGGGCACACA	0.577000														26			14		0	0	0.004007	0	0
KY	339855	broad.mit.edu	37	3	134323202	134323202	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:134323202A>G	uc010hty.3	-	10	1267	c.1205T>C	c.(1204-1206)tTg>tCg	p.L402S	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.L381S	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	402						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GTACACCTCCAACTTCATCCC	0.547000														59			19		0	0	0.007413	0	0
ZNF416	55659	broad.mit.edu	37	19	58084958	58084958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58084958G>A	uc002qpf.3	-	3	485	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	105	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CATGTCACAGGATTGAATCTT	0.522000														28			25		0	0	0.003330	0	0
PCDH12	51294	broad.mit.edu	37	5	141324995	141324995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141324995C>T	uc003llx.3	-	3	4717	c.3506G>A	c.(3505-3507)gGg>gAg	p.G1169E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1169					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCAGTCCCCGTCTTTCC	0.617000														11			10		0	0	0.000978	0	0
TTC7A	57217	broad.mit.edu	37	2	47221609	47221609	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:47221609C>T	uc010fbb.3	+	6	1325	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TTC7A_uc002rvm.3_Silent_p.F285F|TTC7A_uc002rvn.1_Silent_p.F200F|TTC7A_uc002rvo.3_Silent_p.F319F|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Silent_p.F200F|TTC7A_uc002rvq.3_Silent_p.F59F|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	319							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTTCTTTCGCCACTCAGG	0.597000														67			33		0	0	0.002096	0	0
PIGT	51604	broad.mit.edu	37	20	44052929	44052929	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:44052929C>T	uc002xoh.2	+	9	1398	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	PIGT_uc010ghf.2_Silent_p.A389A|PIGT_uc010zwz.2_Silent_p.A174A|PIGT_uc010zww.2_Silent_p.A380A|PIGT_uc010zwy.2_Silent_p.A334A|PIGT_uc002xoj.2_Silent_p.A369A|PIGT_uc010zwu.2_Silent_p.A174A|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Silent_p.A174A|PIGT_uc010zwx.2_Silent_p.A271A|PIGT_uc010zxa.2_Silent_p.A274A|PIGT_uc002xol.1_Silent_p.A225A|PIGT_uc010zxb.1_Silent_p.A112A	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	436					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGCTGCCGGCCAACTCAGTCA	0.582000														55			30		0	0	0.001512	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479300	55479300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:55479300C>T	uc004dum.3	+	0	763	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	165	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CTTCTGGGGGCCCCGAGCACA	0.507000														7			49		0	0	0.003610	0	0
ZNF235	9310	broad.mit.edu	37	19	44793050	44793050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44793050G>A	uc002oza.4	-	4	641	c.538C>T	c.(538-540)Ccg>Tcg	p.P180S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P176S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAAGAATTCGGAACTTTCCCA	0.348000														55			10		0	0	0.006214	0	0
ARPC1B	10095	broad.mit.edu	37	7	98983391	98983391	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:98983391G>A	uc003upz.3	+	1	174	c.54G>A	c.(52-54)aaG>aaA	p.K18K	ARPC1A_uc011kit.2_Non-coding_Transcript	NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	18					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGGAACAAGGACCGCACCC	0.647000														2			29		0	0	0.002096	0	0
AKD1	221264	broad.mit.edu	37	6	109962759	109962759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:109962759G>A	uc003ptn.2	-	9	972	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	AKD1_uc003ptr.4_Nonsense_Mutation_p.Q299*|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	299					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TCTGCACCCTGAAGTTTGGTT	0.343000														3			20		0	0	0.002299	0	0
ZNF718	255403	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:60001G>A	uc003fzv.1	+	2	337	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF718_uc003fzt.4_Missense_Mutation_p.E61K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAAATAAAAGAGCCCTGCAA	0.448000														124			7		0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	121058574	121058574	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:121058574C>T	uc010rzo.2	+	19	6033	c.6033C>T	c.(6031-6033)atC>atT	p.I2011I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2011	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCATTGGCATCGAGGAGAATG	0.433000														15			20		0	0	0.001523	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187468	32187468	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32187468G>T	uc003obb.3	-	7	1550	c.1411C>A	c.(1411-1413)Cgt>Agt	p.R471S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R471S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	471	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.R471S(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCTCACAACGGGAGCCTGTG	0.622000														572			8		0.000442599	0.000695181	0.006214	1	0
HHIPL2	79802	broad.mit.edu	37	1	222705434	222705434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:222705434C>T	uc001hnh.1	-	5	1655	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	533					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)		TTTCTATCTTCCTGCAAAGCC	0.433000														217			402		0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10354126	10354127	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10354126_10354127CT>TA	uc002gmn.3	-	28	4062_4063	c.3951_3952AG>TA	c.(3949-3954)gaagaa>gaTAaa	p.1317_1318EE>DK	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1317					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTTTAATTCTTCAATCTGTT	0.406000														60			25		0	0	0.004672	0	0
PUF60	22827	broad.mit.edu	37	8	144900408	144900409	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144900408_144900409GG>AA	uc003yzs.3	-	6	621_622	c.557_558CC>TT	c.(556-558)gcc>gTT	p.A186V	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Missense_Mutation_p.A143V|PUF60_uc003yzr.3_Missense_Mutation_p.A126V|PUF60_uc003yzt.3_Missense_Mutation_p.A169V|PUF60_uc003yzu.1_Missense_Mutation_p.A175V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	186	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCTCCAAGGCCAGCTGTGC	0.658000														5			4		0	0	0.004672	0	0
KLK15	55554	broad.mit.edu	37	19	51330320	51330320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51330320C>T	uc002ptl.3	-	2	326	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	KLK15_uc002ptm.3_Missense_Mutation_p.E99K|KLK15_uc002ptn.3_Missense_Mutation_p.E99K|KLK15_uc002pto.3_Missense_Mutation_p.E98K|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E98K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y98Y(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CTGCGCGCTTCGTAGCGCGGG	0.667000														58			26		0	0	0.005443	0	0
RP1L1	94137	broad.mit.edu	37	8	10467498	10467498	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:10467498C>T	uc003wtc.3	-	3	4339	c.4110G>A	c.(4108-4110)gaG>gaA	p.E1370E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1370					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGCACCCCCTCTTCTTGCA	0.478000														28			75		0	0	0.003610	0	0
PDE8B	8622	broad.mit.edu	37	5	76646927	76646927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:76646927G>A	uc003kfa.3	+	8	1100	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	PDE8B_uc003kfd.3_Missense_Mutation_p.G305E|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.G332E|PDE8B_uc003kfc.3_Missense_Mutation_p.G352E	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	352					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGGAAATCCGGGGACAGCATC	0.502000														392			55		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41719712	41719712	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41719712G>A	uc002yyq.1	-	5	1547	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	365	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCGTGGTTGATCCCTGTGA	0.512000														95			190		0	0	0.003610	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174110	63174110	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63174110C>T	uc001nww.3	+	6	1483	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	405					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATACATGAACCGTCGAGCAA	0.493000														22			37		0	0	0.003271	0	0
CNTN6	27255	broad.mit.edu	37	3	1367635	1367635	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:1367635G>A	uc003boz.3	+	9	1350	c.1083_splice	c.e9+1	p.E361_splice	CNTN6_uc011asj.2_Splice_Site_p.E289_splice|CNTN6_uc003bpa.3_Splice_Site_p.E361_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	361	Ig-like C2-type 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAACCCAGAGGTAAGCAACT	0.363000														23			9		0	0	0.000978	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	T	T	rs150165907		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:140122557C>T	uc003etn.3	+	2	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CLSTN2_uc003etm.2_Missense_Mutation_p.R107C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	107	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.R107H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)				105			38		0	0	0.004878	0	0
DNAH17	8632	broad.mit.edu	37	17	76526474	76526474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76526474G>A	uc010dhp.2	-	20	3360	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGCCCCAGCGCCGGATTGTG	0.617000														42			5		0	0	0.001168	0	0
OAS3	4940	broad.mit.edu	37	12	113405759	113405759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:113405759G>A	uc001tug.3	+	13	2971	c.2884G>A	c.(2884-2886)Ggg>Agg	p.G962R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	962	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GATCTCCAAGGGGAGAGGCTC	0.532000														8			20		0	0	0.001216	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785507	1785507	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1785507G>A	uc002ltw.3	-	25	3588	c.3354C>T	c.(3352-3354)gtC>gtT	p.V1118V	ATP8B3_uc002ltv.3_Silent_p.V1081V|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1118					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCACCACGACCGCAAAGG	0.632000														10			19		0	0	0.001882	0	0
ADAM7	8756	broad.mit.edu	37	8	24304708	24304708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24304708G>A	uc003xeb.3	+	2	279	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	ADAM7_uc003xea.1_Missense_Mutation_p.E56K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	56					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAAAACGTATGAAGAAGAATT	0.363000														23			23		0	0	0.003954	0	0
RARS	5917	broad.mit.edu	37	5	167920929	167920929	+	Missense_Mutation	SNP	C	T	T	rs145783542		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167920929C>T	uc003lzx.3	+	3	441	c.400C>T	c.(400-402)Cca>Tca	p.P134S	RARS_uc011deo.2_Intron	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	134					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAAGTTAATCCAAGAGAAAT	0.358000														49			9		0	0	0.001855	0	0
SEC16B	89866	broad.mit.edu	37	1	177937101	177937101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:177937101G>A	uc001glj.1	-	6	882	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.P6S|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.P6S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	6					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCCTCTGGGGAGCCCAAAGT	0.498000														26			7		0	0	0.004482	0	0
PSG5	5673	broad.mit.edu	37	19	43690519	43690519	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43690519G>A	uc002ovu.3	-	0	170	c.39C>T	c.(37-39)atC>atT	p.I13I	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.I13I	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	13					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCTTCCAGGTGATGTGCTGTG	0.597000														101			34		0	0	0.007835	0	0
SECISBP2	79048	broad.mit.edu	37	9	91961898	91961898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91961898C>T	uc004aqj.1	+	10	1617	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	SECISBP2_uc010mqo.1_Missense_Mutation_p.P218S|SECISBP2_uc004aqk.1_Missense_Mutation_p.P440S|SECISBP2_uc011ltk.1_Missense_Mutation_p.P512S|SECISBP2_uc011ltl.1_Missense_Mutation_p.P445S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	513					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTCCAGCGCCCCACTGATGAA	0.557000														24			17		0	0	0.004990	0	0
CD163	9332	broad.mit.edu	37	12	7632536	7632536	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7632536A>T	uc001qsz.3	-	15	3528	c.3400T>A	c.(3400-3402)Ttt>Att	p.F1134I	CD163_uc001qta.3_Intron|CD163_uc009zfw.2_Intron	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1134					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAGGAAGAAATTTAGACACA	0.373000														28			7		0	0	0.001984	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400099	13400099	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13400099G>A	uc002gob.1	-	1	1434	c.636C>T	c.(634-636)acC>acT	p.T212T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	212						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTTCTCCATGGTGATCTGCC	0.612000														57			7		0	0	0.001984	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668773	43668773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43668773G>A	uc001zro.3	+	2	520	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TUBGCP4_uc001zrn.3_Missense_Mutation_p.D94N|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	94					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CACAGGGCTGGATTCTGTTTT	0.483000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			17		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179592968	179592968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179592968C>T	uc021vsy.1	-	63	16076	c.15851G>A	c.(15850-15852)aGa>aAa	p.R5284K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R1945K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6211	Ig-like 33.						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)			GCACACAAGTCTGTATTTTGC	0.393000														23			4		0	0	0.000602	0	0
XIST	7503	broad.mit.edu	37	X	73064557	73064557	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73064557G>A	uc004ebm.1	-	0		c.8032C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AACAGGCCAGGAAAATGGGCC	0.468000														24			21		0	0	0.002780	0	0
AMPD1	270	broad.mit.edu	37	1	115222291	115222291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:115222291G>A	uc001efe.2	-	6	953	c.905C>T	c.(904-906)tCc>tTc	p.S302F	AMPD1_uc001eff.2_Missense_Mutation_p.S298F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	269					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTGGAACTTGGAGGAGAGGAA	0.413000														75			24		0	0	0.005443	0	0
C12orf51	283450	broad.mit.edu	37	12	112744000	112744000	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:112744000G>A	uc021reb.1	-	6	1167	c.771C>T	c.(769-771)ccC>ccT	p.P257P		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGCTGCCAATGGGGAGGTGAT	0.498000														5			5		0	0	0.000602	0	0
INA	9118	broad.mit.edu	37	10	105048256	105048256	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105048256C>T	uc001kws.3	+	2	1379	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	444	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ATCCACTGGGCTATCACTTAA	0.473000														77			34		0	0	0.005524	0	0
PASK	23178	broad.mit.edu	37	2	242062230	242062230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242062230G>A	uc002wao.2	-	11	3122	c.2989C>T	c.(2989-2991)Caa>Taa	p.Q997*	PASK_uc010zol.2_Nonsense_Mutation_p.Q811*|PASK_uc010zom.2_Nonsense_Mutation_p.Q962*|PASK_uc010fzl.2_Nonsense_Mutation_p.Q997*|PASK_uc010zon.2_Nonsense_Mutation_p.Q778*|PASK_uc021vzf.1_Nonsense_Mutation_p.Q997*|PASK_uc002wap.3_Nonsense_Mutation_p.Q540*|PASK_uc002waq.3_Nonsense_Mutation_p.Q997*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	997					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGTACTTTTGGGAGTACTCG	0.592000														30			21		0	0	0.003330	0	0
SYCP2	10388	broad.mit.edu	37	20	58442899	58442899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:58442899G>A	uc002yaz.3	-	37	4131	c.3992C>T	c.(3991-3993)tCt>tTt	p.S1331F		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1331					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TACACTTTCAGACACTAAAAA	0.323000														50			8		0	0	0.004482	0	0
LIPE	3991	broad.mit.edu	37	19	42930782	42930782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42930782C>T	uc002otr.3	-	0	797	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	174					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GACGTAGATTCAGTCGGGGCA	0.557000														85			32		0	0	0.003271	0	0
KLK1	3816	broad.mit.edu	37	19	51322477	51322477	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51322477G>A	uc002ptk.1	-	4	801	c.762C>T	c.(760-762)atC>atT	p.I254I	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	254	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGTCCTCGATCCACTTCA	0.542000														37			46		0	0	0.003610	0	0
KCNG2	26251	broad.mit.edu	37	18	77624193	77624193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:77624193G>A	uc010xfl.2	+	0	526	c.526G>A	c.(526-528)Ggc>Agc	p.G176S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	176					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGGGCTGGCGGGCAAGCTCTT	0.766000														19			9		0	0	0.006214	0	0
CXCR2	3579	broad.mit.edu	37	2	219000455	219000455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219000455C>T	uc002vgz.2	+	3	1141	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	CXCR2_uc002vha.2_Missense_Mutation_p.P311S|CXCR2_uc002vhb.2_Missense_Mutation_p.P311S|CXCR2_uc021vwp.1_Missense_Mutation_p.P311S	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTGCCTCAACCCCCTCATCTA	0.562000														40			12		0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11666756	11666756	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11666756G>A	uc002gne.3	+	36	7064	c.6996_splice	c.e36-1	p.R2332_splice	DNAH9_uc010coo.3_Splice_Site_p.R1626_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2332	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTTTGCAGGTTTAAGAAG	0.512000														87			25		0	0	0.003330	0	0
LOC100132247	0	broad.mit.edu	37	16	21854892	21854892	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21854892G>A	uc002djr.3	-	5	542	c.360C>T	c.(358-360)tcC>tcT	p.S120S	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Silent_p.S101S|LOC100132247_uc010vbn.1_Silent_p.S120S	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		GCATACAAATGGACCTCAGCC	0.428000														139			23		0	0	0.002780	0	0
KCNH3	23416	broad.mit.edu	37	12	49934911	49934911	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49934911G>A	uc001ruh.1	+	1	566	c.306G>A	c.(304-306)aaG>aaA	p.K102K	KCNH3_uc010smj.1_Silent_p.K42K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	102	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACCGGAAGAGCGGTGAGG	0.612000														49			5		0	0	0.000602	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630379	51630379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51630379C>T	uc010yct.2	+	3	936	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIGLEC9_uc002pvu.3_Missense_Mutation_p.P281S	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	281	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.P281L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGACAGCAATCCCCCTGCCAG	0.607000														40			48		0	0	0.003610	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696515	69696515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:69696515C>T	uc003hee.3	+	5	1530	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	UGT2B10_uc011cam.2_Missense_Mutation_p.T418I	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	502					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A501S(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGTGTGGCAACCGTGCTATTT	0.433000														57			39		0	0	0.004289	0	0
MAPK10	5602	broad.mit.edu	37	4	86988960	86988960	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86988960G>A	uc003hps.3	-	9	1637	c.951C>T	c.(949-951)ctC>ctT	p.L317L	MAPK10_uc010ikg.3_Silent_p.L279L|MAPK10_uc003hpr.3_Silent_p.L279L|MAPK10_uc003hpt.3_Silent_p.L317L|MAPK10_uc003hpu.3_Silent_p.L317L|MAPK10_uc003hpv.3_Silent_p.L172L|MAPK10_uc003hpn.3_Silent_p.L65L|MAPK10_uc011ccw.2_Silent_p.L203L|MAPK10_uc003hpo.3_Silent_p.L172L|MAPK10_uc003hpp.3_Silent_p.L172L	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	317	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCGCTGGGAAGAGGGAATCTG	0.483000														17			9		0	0	0.006214	0	0
PCNT	5116	broad.mit.edu	37	21	47801634	47801634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47801634C>T	uc002zji.4	+	15	3298	c.3191C>T	c.(3190-3192)aCt>aTt	p.T1064I	PCNT_uc002zjj.3_Missense_Mutation_p.T946I	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1064					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAAAGAAAACTGCTTTGCAT	0.403000														174			36		0	0	0.007835	0	0
YEATS2	55689	broad.mit.edu	37	3	183476713	183476713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:183476713C>T	uc003fly.2	+	12	1811	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	539					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCCCTGTTCCTAAAATTCAT	0.363000														52			25		0	0	0.003954	0	0
PRKCG	5582	broad.mit.edu	37	19	54395012	54395012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54395012G>A	uc002qcq.1	+	5	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	205	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGACCCTCGGAACCTGACG	0.532000														103			24		0	0	0.002780	0	0
MED12L	116931	broad.mit.edu	37	3	151094947	151094948	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:151094947_151094948GG>AA	uc003eyp.3	+	27	4321_4322	c.4192_4193GG>AA	c.(4192-4194)gga>AAa	p.G1398K	MED12L_uc011bnz.2_Missense_Mutation_p.G1258K|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.G561K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1398					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGACAGAATGGAATAAAGACA	0.366000														29			8		0	0	0.004672	0	0
KDM3B	51780	broad.mit.edu	37	5	137754678	137754678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:137754678G>A	uc003lcy.1	+	13	3672	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	KDM3B_uc010jew.1_Missense_Mutation_p.E814K|KDM3B_uc011cys.1_Missense_Mutation_p.E190K	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1158					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCTGGAAACGAAACTACCTT	0.478000														42			78		0	0	0.003610	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34663234C>T	uc001bxt.3	+	1	1567	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_uc001bxs.4_Silent_p.F53F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000														24			16		0	0	0.006122	0	0
CCDC147	159686	broad.mit.edu	37	10	106160635	106160635	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:106160635G>A	uc001kyh.3	+	12	2147	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	671										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTCTTGCCAGGAGTATGGCTA	0.473000														26			30		0	0	0.002836	0	0
SDK1	221935	broad.mit.edu	37	7	4008917	4008917	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4008917C>T	uc003smx.3	+	10	1714	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	525	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGGCTCTGTCCGGATTCCTA	0.507000														582			113		0	0	0.003610	0	0
STAT3	6774	broad.mit.edu	37	17	40474506	40474506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40474506G>A	uc002hzl.1	-	20	2135	c.1895C>T	c.(1894-1896)aCc>aTc	p.T632I	STAT3_uc002hzk.1_Missense_Mutation_p.T632I|STAT3_uc002hzm.1_Missense_Mutation_p.T632I|STAT3_uc010wgh.1_Missense_Mutation_p.T534I|STAT3_uc002hzn.1_Missense_Mutation_p.T632I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	632	SH2.				JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGGATCTGGGTCTTACCTGT	0.448000									Hyperimmunoglobulin E Recurrent Infection Syndrome					145			30		0	0	0.002445	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215639	20215639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20215639C>T	uc010tkt.2	+	0	53	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTGGGCCTATCATCTTCTTGG	0.363000														265			22		0	0	0.003330	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561813	142561813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142561813G>A	uc003evd.3	-	3	833	c.526C>T	c.(526-528)Cct>Tct	p.P176S		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	176	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACTCCTGCAGGGTAATCCCGG	0.483000														43			22		0	0	0.002299	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147162	26147163	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:26147162_26147163GG>AA	uc002dof.3	+	1	1356_1357	c.964_965GG>AA	c.(964-966)ggg>AAg	p.G322K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	322					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCGGACCCTCGGGCTGATCGAT	0.545000														74			96		0	0	0.004672	0	0
FAM83B	222584	broad.mit.edu	37	6	54735289	54735289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:54735289C>T	uc003pck.3	+	1	361	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	82								p.D81D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTGATGATTCCTGTGATGAT	0.433000														170			28		0	0	0.002445	0	0
DNAH17	8632	broad.mit.edu	37	17	76498986	76498986	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76498986G>A	uc010dhp.2	-	31	5189	c.5064C>T	c.(5062-5064)atC>atT	p.I1688I	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTAGTCCAGGATCCACTGCT	0.622000														44			15		0	0	0.004990	0	0
FOXI1	2299	broad.mit.edu	37	5	169535329	169535329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169535329C>T	uc003mai.4	+	1	896	c.851C>T	c.(850-852)tCt>tTt	p.S284F	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	284					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCTTTCCTCTATGACAGCC	0.637000									Pendred syndrome					68			17		0	0	0.007413	0	0
RAB11B	9230	broad.mit.edu	37	19	8464857	8464857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8464857C>T	uc002mju.4	+	1	247	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RAB11B_uc021uof.1_5'Flank	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTTCGCCACCCGCAGCATCCA	0.662000														29			12		0	0	0.001855	0	0
CALN1	83698	broad.mit.edu	37	7	71743780	71743780	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:71743780G>A	uc003twb.4	-	2	526	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CALN1_uc003twa.4_Silent_p.F3F|CALN1_uc003twc.4_Silent_p.F3F	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	3	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.F45I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCACATGGTGGAACGGCATCT	0.498000														38			12		0	0	0.001855	0	0
USP5	8078	broad.mit.edu	37	12	6973281	6973281	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6973281C>T	uc001qri.4	+	16	2225	c.2166C>T	c.(2164-2166)ccC>ccT	p.P722P	USP5_uc001qrh.4_Silent_p.P699P	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	722	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGCCGACCCCCCTCCTGAGG	0.627000														78			14		0	0	0.001855	0	0
UBA2	10054	broad.mit.edu	37	19	34949692	34949692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34949692C>T	uc002nvk.3	+	12	1334	c.1264C>T	c.(1264-1266)Cca>Tca	p.P422S	UBA2_uc010xrx.1_Missense_Mutation_p.P295S|UBA2_uc002nvl.3_Missense_Mutation_p.P326S	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	422					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity	p.P422R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAATAAACAACCAAACCCAAG	0.423000														63			18		0	0	0.001523	0	0
ZNF677	342926	broad.mit.edu	37	19	53741139	53741139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53741139G>A	uc002qbg.1	-	4	992	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ZNF677_uc002qbf.1_Missense_Mutation_p.H281Y	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H281Y(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATTCTCTGATGATTAGTGAGG	0.398000														75			24		0	0	0.002299	0	0
LIFR	3977	broad.mit.edu	37	5	38523666	38523666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:38523666G>A	uc010ive.1	-	4	748	c.416C>T	c.(415-417)cCa>cTa	p.P139L	LIFR_uc003jli.2_Missense_Mutation_p.P139L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	139					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGATCTCTGGAGTATCTGG	0.348000			T	PLAG1	salivary adenoma									79			10		0	0	0.000978	0	0
MIER1	57708	broad.mit.edu	37	1	67411848	67411848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:67411848C>T	uc001dde.2	+	3	343	c.209C>T	c.(208-210)tCa>tTa	p.S70L	MIER1_uc001dda.4_Nonsense_Mutation_p.Q95*|MIER1_uc010opf.1_Missense_Mutation_p.S34L|MIER1_uc009way.2_Missense_Mutation_p.S34L|MIER1_uc010opg.1_Missense_Mutation_p.S34L|MIER1_uc001ddf.2_Missense_Mutation_p.S34L|MIER1_uc001ddc.2_Missense_Mutation_p.S70L|MIER1_uc001ddg.2_5'UTR|MIER1_uc001ddh.2_Intron|MIER1_uc001ddj.1_Missense_Mutation_p.S17L|MIER1_uc001ddi.2_Missense_Mutation_p.S17L	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	41	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCAGCAACATCAGATGACCAT	0.328000														31			20		0	0	0.004656	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018742	34018742	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:34018742G>C	uc002yqh.2	-	23	3325	c.3325C>G	c.(3325-3327)Cga>Gga	p.R1109G	SYNJ1_uc011ads.1_Missense_Mutation_p.R1065G|SYNJ1_uc002yqf.2_Missense_Mutation_p.R1070G|SYNJ1_uc002yqg.2_Missense_Mutation_p.R1065G|SYNJ1_uc002yqi.2_Missense_Mutation_p.R1109G	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1070	Poly-Pro.|Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACGGTGCTCGGCTTGGTCTG	0.527000														62			32		0	0	0.003271	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600319	41600319	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41600319G>A	uc002opt.3	+	6	1152	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	381					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCAAGTTTCGGGATTTCTTCC	0.557000														35			16		0	0	0.007413	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73075268	73075268	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73075268C>T	uc001otu.3	+	16	5406	c.5385C>T	c.(5383-5385)gtC>gtT	p.V1795V		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1795					actin cytoskeleton organization|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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTTGTGGTCTACCAAAGGG	0.552000														134			50		0	0	0.003610	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807965	48807966	+	Missense_Mutation	DNP	CC	TT	TT	rs77258218	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:48807965_48807966CC>TT	uc002rwp.2	+	1	307_308	c.193_194CC>TT	c.(193-195)ccc>TTc	p.P65F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P65F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P65F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P65F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P65F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	65					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCTCCTCCCCCATTGTAGAT	0.505000														100			36		0	0	0.004672	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323108	61323108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61323108C>T	uc002lji.3	-	7	1100	c.956G>A	c.(955-957)gGg>gAg	p.G319E	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.G267E	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	319					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T318A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCGCGGCTCCCGGTCATGCC	0.547000														78			22		0	0	0.002299	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190873	185190873	+	Missense_Mutation	SNP	G	A	A	rs144909413		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185190873G>A	uc010hyf.3	+	11	2045	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	MAP3K13_uc011brt.2_Missense_Mutation_p.R378Q|MAP3K13_uc011bru.2_Missense_Mutation_p.R441Q|MAP3K13_uc003fpi.3_Missense_Mutation_p.R585Q|MAP3K13_uc010hyg.3_Missense_Mutation_p.R275Q	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	585					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCCGATATCGAAGCAAACCA	0.542000														167			58		0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135032539	135032539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135032539G>A	uc001llz.1	+	27	4806	c.4805G>A	c.(4804-4806)tGg>tAg	p.W1602*		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1602	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTTCAGGCCTGGAGAATTCTG	0.657000														13			13		0	0	0.001855	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:54805757G>A	uc003pck.3	+	4	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	663								p.R662S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAAAGGCGAAGTTTCCCG	0.343000														50			82		0	0	0.003610	0	0
ACVRL1	94	broad.mit.edu	37	12	52309924	52309924	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52309924A>T	uc001rzj.3	+	7	1436	c.1153A>T	c.(1153-1155)Atc>Ttc	p.I385F	ACVRL1_uc001rzk.3_Missense_Mutation_p.I385F|ACVRL1_uc010snm.2_Missense_Mutation_p.I211F	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	385	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)	GGACGAGCAGATCCGCACGGA	0.607000														26			55		0	0	0.003610	0	0
SCN4A	6329	broad.mit.edu	37	17	62034588	62034588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:62034588C>T	uc002jds.1	-	12	2387	c.2310G>A	c.(2308-2310)atG>atA	p.M770I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	770					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGGCCACCTCCATGCAGTCCC	0.607000														26			27		0	0	0.001786	0	0
BC039000	0	broad.mit.edu	37	10	42947111	42947111	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:42947111G>A	uc001izx.3	-	2		c.644C>T								Homo sapiens cyclin Y-like 2, mRNA (cDNA clone IMAGE:4704933), with apparent retained intron.																		TGGTCAGAAGGGTTGGGCTCC	0.358000														11			3		0	0	0.004672	0	0
DCDC5	100506627	broad.mit.edu	37	11	30928159	30928159	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:30928159G>A	uc009yjk.1	-	17	2445	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.F451F|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	423					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AAATACAGAGGAATGGAACCC	0.463000														4			13		0	0	0.002450	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:26147239C>T	uc002dof.3	+	1	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	347					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000														84			36		0	0	0.004878	0	0
KIF5A	3798	broad.mit.edu	37	12	57963333	57963333	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57963333G>A	uc001sor.1	+	10	1192	c.984G>A	c.(982-984)aaG>aaA	p.K328K	KIF5A_uc010srr.1_Silent_p.K239K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	328	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGACCATTAAGAACACTGCCT	0.493000														536			47		0	0	0.003610	0	0
PSG4	5672	broad.mit.edu	37	19	43411146	43411146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43411146G>A	uc002ovj.1	-	4	1267	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.L230F|PSG4_uc002ovg.1_Missense_Mutation_p.L390F	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	391	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAAGCATAGAGCCCGCTATGA	0.448000														123			138		0	0	0.003610	0	0
HRC	3270	broad.mit.edu	37	19	49657807	49657807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49657807C>T	uc002pmv.3	-	0	875	c.688G>A	c.(688-690)Gga>Aga	p.G230R		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	230	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGATGGTGTCCATCTGAGACA	0.537000														17			8		0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54307230	54307230	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54307230G>A	uc021smr.1	+	0	2130	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	UNC13C_uc021sms.1_Silent_p.E710E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	710					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)		ATGACTCAGAGAGCTACGACT	0.413000														20			17		0	0	0.004990	0	0
THBS2	7058	broad.mit.edu	37	6	169648794	169648794	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:169648794G>A	uc003qwt.3	-	3	575	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	109	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.S109>?(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTGCCTCTGGGAGAGACCGG	0.647000														31			22		0	0	0.002780	0	0
KNDC1	85442	broad.mit.edu	37	10	135025051	135025051	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135025051T>C	uc001llz.1	+	21	4035	c.4034T>C	c.(4033-4035)cTa>cCa	p.L1345P		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1345	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGGGAAGCTAGAGGACTTC	0.657000														61			10		0	0	0.002450	0	0
AACSP1	729522	broad.mit.edu	37	5	178224592	178224592	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178224592C>T	uc011dgl.2	-	3		c.587G>A			AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		GGTGCTCCGTCCGATGCTGGA	0.592000														10			3		0	0	0.004672	0	0
OR51F1	256892	broad.mit.edu	37	11	4790304	4790304	+	Missense_Mutation	SNP	A	T	T	rs144710348		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4790304A>T	uc010qyl.2	-	0	844	c.844T>A	c.(844-846)Tac>Aac	p.Y282N		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	282						integral to membrane	olfactory receptor activity	p.V281I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAAGCAGGTATACATTAGCC	0.473000														8			26		0	0	0.004656	0	0
BTNL8	79908	broad.mit.edu	37	5	180377239	180377239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180377239C>T	uc003mmp.3	+	7	1432	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.P275S|BTNL8_uc010jlm.3_Missense_Mutation_p.P284S|BTNL8_uc011dhh.2_Missense_Mutation_p.P216S	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	400	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGTCTTCCCCAGGACCCC	0.463000														29			53		0	0	0.003610	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726483	15726483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15726483G>A	uc002nbi.3	+	1	120	c.56G>A	c.(55-57)tGg>tAg	p.W19*	CYP4F8_uc010xoi.1_Nonsense_Mutation_p.W19*|CYP4F8_uc010xoj.2_5'UTR	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	19					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCATCCCCGTGGCTGCTCCTG	0.682000														18			16		0	0	0.003163	0	0
ACAN	176	broad.mit.edu	37	15	89400855	89400855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:89400855G>A	uc010upo.1	+	11	5413	c.5039G>A	c.(5038-5040)gGg>gAg	p.G1680E	ACAN_uc010upp.1_Missense_Mutation_p.G1680E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1680					cell adhesion		hyaluronic acid binding|sugar binding	p.P1679H(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAACTGGAAGGGAGGGGAACC	0.517000														121			82		0	0	0.003610	0	0
NR2C1	7181	broad.mit.edu	37	12	95451609	95451609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:95451609G>A	uc001tdm.4	-	5	846	c.590C>T	c.(589-591)tCt>tTt	p.S197F	NR2C1_uc010suu.1_Missense_Mutation_p.S197F|NR2C1_uc001tdn.4_Missense_Mutation_p.S197F|NR2C1_uc001tdo.4_Missense_Mutation_p.S197F	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	197					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACAGTTGGAAGATTTTTCTCG	0.348000														43			25		0	0	0.004656	0	0
C1orf87	127795	broad.mit.edu	37	1	60499176	60499176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:60499176G>A	uc001czs.2	-	6	1109	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	334							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCAGAGAACGAGCGATCTTC	0.428000														35			15		0	0	0.003163	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517266	26517266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26517266C>T	uc010oez.2	+	0	148	c.148C>T	c.(148-150)Cac>Tac	p.H50Y	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	50					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTACCATTCACGAGTCCTA	0.627000														10			7		0	0	0.006214	0	0
MTMR8	55613	broad.mit.edu	37	X	63563500	63563500	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:63563500G>A	uc004dvs.3	-	7	1056	c.966C>T	c.(964-966)ttC>ttT	p.F322F	MTMR8_uc011mou.2_Silent_p.F322F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	322	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTTTGTAATGAAAATTCCAG	0.348000														0			12		0	0	0.003163	0	0
DSG2	1829	broad.mit.edu	37	18	29121276	29121276	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29121276A>G	uc002kwu.4	+	13	2189	c.2001_splice	c.e13+1	p.K667_splice		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	667					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTGAAGACAAGGTCAGTGGA	0.463000														22			7		0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	A	A	rs146377316		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21230565G>A	uc002red.3	-	25	9303	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3059					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	p.R3059C(2)		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)	AATGGAAAACGAACTTTCAAA	0.403000														376			123		0	0	0.003610	0	0
NR6A1	2649	broad.mit.edu	37	9	127300562	127300562	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127300562C>T	uc004bor.1	-	5	811	c.633G>A	c.(631-633)agG>agA	p.R211R	NR6A1_uc004boq.1_Silent_p.R206R|NR6A1_uc010mwq.1_Silent_p.R207R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	211	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGTACTGTTCCCTGAAGGCCA	0.468000														40			55		0	0	0.003610	0	0
GRIA4	2893	broad.mit.edu	37	11	105842677	105842677	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:105842677G>A	uc001pix.2	+	14	2777	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E	GRIA4_uc001piw.2_Intron|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Intron	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	777					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AACTCAGTGAGGCAGGCGTCT	0.403000														24			23		0	0	0.003330	0	0
WWTR1	25937	broad.mit.edu	37	3	149260244	149260244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:149260244C>T	uc003exf.3	-	3	989	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	WWTR1_uc003exe.3_Missense_Mutation_p.G217R|WWTR1_uc021xfm.1_Missense_Mutation_p.G217R|WWTR1_uc003exh.3_Missense_Mutation_p.G217R	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	217	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTCATGAGCCCTGCGGGTGGG	0.557000			T	CAMTA1	epitheliod hemangioendothelioma									46			10		0	0	0.000978	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730456	15730456	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15730456C>T	uc002nbi.3	+	4	472	c.408C>T	c.(406-408)ctC>ctT	p.L136L	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	136					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGATGGGCTCTTGTTAAGTG	0.522000														19			5		0	0	0.000602	0	0
RSF1	51773	broad.mit.edu	37	11	77402212	77402212	+	Silent	SNP	G	A	A	rs139840785		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:77402212G>A	uc001oyn.3	-	8	3012	c.2892C>T	c.(2890-2892)gcC>gcT	p.A964A	RSF1_uc001oym.3_Silent_p.A712A	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	964					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ACCTTCGTTCGGCACGCTCTT	0.353000														73			26		0	0	0.006320	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73848969G>A	uc003xzb.3	+	2	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000														55			59		0	0	0.003610	0	0
TTC8	123016	broad.mit.edu	37	14	89338717	89338717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:89338717C>T	uc010ath.3	+	12	1450	c.1316C>T	c.(1315-1317)gCt>gTt	p.A439V	TTC8_uc001xxi.3_Missense_Mutation_p.A423V|TTC8_uc001xxj.3_Missense_Mutation_p.A413V|TTC8_uc001xxk.3_Missense_Mutation_p.A383V|TTC8_uc001xxl.3_Missense_Mutation_p.A184V|TTC8_uc010ati.3_Missense_Mutation_p.A225V|TTC8_uc010atj.3_Missense_Mutation_p.A158V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	449					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCAGGCTGGCTCTGGTCAAC	0.532000														33			25		0	0	0.003330	0	0
AZI1	22994	broad.mit.edu	37	17	79193716	79193716	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79193716G>A	uc002jzp.1	-	1	341	c.141C>T	c.(139-141)tcC>tcT	p.S47S	AZI1_uc002jzn.1_Silent_p.S47S|AZI1_uc002jzo.1_Silent_p.S47S|AZI1_uc010wum.1_Silent_p.S47S	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	47					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGACCACGGAGACAGAGC	0.652000														67			83		0	0	0.003610	0	0
INSR	3643	broad.mit.edu	37	19	7152894	7152894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7152894C>T	uc002mgd.1	-	9	2183	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	INSR_uc002mge.1_Missense_Mutation_p.E692K|INSR_uc002mgf.3_Missense_Mutation_p.E692K	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	692	Fibronectin type-III 1.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGAATCTTCAGACTCGAAT	0.537000														275			93		0	0	0.003610	0	0
TBX10	347853	broad.mit.edu	37	11	67402522	67402522	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67402522G>A	uc001omp.3	-	1	308	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	74					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCCTCCCACAGAGGCTTCATC	0.642000														17			15		0	0	0.004007	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307214	39307214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:39307214G>A	uc021wwc.1	-	1	923	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	CX3CR1_uc021wwa.1_Missense_Mutation_p.P263S|CX3CR1_uc021wwb.1_Missense_Mutation_p.P263S|CX3CR1_uc003cjl.3_Missense_Mutation_p.P263S|CX3CR1_uc021wwd.1_Missense_Mutation_p.P263S	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	263					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCACAACTGGGAAAGAAGTCA	0.463000														43			66		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882320	228882320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228882320C>T	uc002vpq.2	-	6	3297	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1084K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1084K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1084						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAATGCTTTCGCAGCTGGAG	0.622000														23			20		0	0	0.001882	0	0
LGALS8	3964	broad.mit.edu	37	1	236700859	236700859	+	Silent	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236700859T>A	uc001hxz.2	+	3	489	c.108T>A	c.(106-108)cgT>cgA	p.R36R	LGALS8_uc001hxw.2_Silent_p.R36R|LGALS8_uc001hxy.2_Silent_p.R36R|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Silent_p.R36R|LGALS8_uc001hyc.2_Silent_p.R36R	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	36	Galectin 1.		R -> C (in dbSNP:rs1041935).			cytoplasm|extracellular space	sugar binding	p.R36C(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGTGATACGTGGGCATGTTC	0.393000														55			12		0	0	0.002450	0	0
KRT18	3875	broad.mit.edu	37	12	53345998	53345998	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53345998G>A	uc001sbe.3	+	6	1113	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	KRT18_uc009zmn.2_Silent_p.E348E|KRT18_uc001sbg.3_Silent_p.E348E|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	348	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TTGAGTCAGAGCTGGCACAGA	0.632000														5			4		0	0	0.000248	0	0
CASR	846	broad.mit.edu	37	3	121973151	121973151	+	Missense_Mutation	SNP	C	T	T	rs121909262		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121973151C>T	uc003eew.4	+	1	553	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CASR_uc003eev.4_Missense_Mutation_p.P39S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	39			P -> A (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGGCTCTTTCCTATTCATTT	0.527000														58			25		0	0	0.006320	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566617	55566617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:55566617G>A	uc002ryv.2	-	12	2343	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	CCDC88A_uc010ypa.1_Nonsense_Mutation_p.Q501*|CCDC88A_uc010yoz.1_Nonsense_Mutation_p.Q501*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.Q403*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	501					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGAGCCTTTGATTTTCTTTT	0.299000														12			13		0	0	0.002450	0	0
TRIP10	9322	broad.mit.edu	37	19	6744928	6744928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6744928C>T	uc002mfs.3	+	8	973	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	TRIP10_uc010dux.2_Missense_Mutation_p.P303S|TRIP10_uc002mfr.3_Missense_Mutation_p.P303S|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	303	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCTGGGCACCCCCTCGGATGG	0.652000														24			35		0	0	0.002445	0	0
MED4	29079	broad.mit.edu	37	13	48669172	48669172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:48669172C>T	uc001vby.1	-	0	69	c.43G>A	c.(43-45)Gga>Aga	p.G15R	MED4_uc010tgf.1_Intron	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	15					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AAACCGCCTCCCAGCCGCTCC	0.647000											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	0.000602	0	0
CACNB4	785	broad.mit.edu	37	2	152695818	152695818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152695818C>T	uc002tya.3	-	13	1446	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	CACNB4_uc002txy.3_Missense_Mutation_p.E426K|CACNB4_uc002txz.3_Missense_Mutation_p.E442K|CACNB4_uc010fnz.3_Missense_Mutation_p.E398K	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	460					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGATAATTTTCATCAGAGGTC	0.433000														81			24		0	0	0.003330	0	0
FAM135B	51059	broad.mit.edu	37	8	139190783	139190783	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139190783G>A	uc003yuy.3	-	9	1195	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	FAM135B_uc003yux.3_Silent_p.L243L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	342										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)			CTCACCCTCAGGGTGTGGTGT	0.498000										HNSCC(54;0.14)				26			12		0	0	0.001855	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208611	23208611	+	Missense_Mutation	SNP	G	A	A	rs147199706		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:23208611G>A	uc002dlm.1	+	5	1079	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	314					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTACATAAACGAAGAGGAATA	0.493000														37			12		0	0	0.002450	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871694	63871694	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:63871694C>T	uc003jtj.3	+	2	426	c.426C>T	c.(424-426)tcC>tcT	p.S142S	RGS7BP_uc011cqu.2_Silent_p.S9S	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	142					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.S142F(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGCTAAAATCCATATGTCTGC	0.428000														60			10		0	0	0.000673	0	0
PDE1C	5137	broad.mit.edu	37	7	31855742	31855742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31855742C>T	uc003tcm.2	-	14	2070	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	PDE1C_uc003tcn.1_Missense_Mutation_p.E537K|PDE1C_uc003tco.2_Missense_Mutation_p.E597K|PDE1C_uc003tcr.3_Missense_Mutation_p.E537K|PDE1C_uc003tcs.3_Missense_Mutation_p.E537K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	537					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)			CGAGCCTTTTCCTCTGCTTCC	0.517000														126			51		0	0	0.003610	0	0
PLD5	200150	broad.mit.edu	37	1	242383300	242383300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:242383300G>A	uc001hzn.2	-	5	952	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PLD5_uc021pll.1_Missense_Mutation_p.S150F|PLD5_uc001hzl.4_Missense_Mutation_p.S180F|PLD5_uc001hzm.4_Missense_Mutation_p.S34F|PLD5_uc001hzo.2_Missense_Mutation_p.S150F	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	242	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGTCCCAGGGATTGCCAGTC	0.498000														27			18		0	0	0.006122	0	0
ZZEF1	23140	broad.mit.edu	37	17	3924426	3924426	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:3924426G>A	uc002fxe.3	-	44	7465	c.7401C>T	c.(7399-7401)ttC>ttT	p.F2467F		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2467							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AACACACCAAGAAACATATTC	0.542000														102			36		0	0	0.002222	0	0
TRPV5	56302	broad.mit.edu	37	7	142627202	142627202	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142627202C>T	uc003wby.1	-	2	564	c.300G>A	c.(298-300)gaG>gaA	p.E100E	TRPV5_uc003wbz.3_Silent_p.E100E	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	100					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTGGGGCAGCCTCCATCAGCA	0.552000														121			16		0	0	0.004007	0	0
FBLN2	2199	broad.mit.edu	37	3	13612990	13612990	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:13612990G>T	uc011avc.2	+	1	1517	c.1135G>T	c.(1135-1137)Gac>Tac	p.D379Y	FBLN2_uc011auz.2_Missense_Mutation_p.D405Y|FBLN2_uc011avb.2_Missense_Mutation_p.D379Y|FBLN2_uc011ava.2_Missense_Mutation_p.D379Y	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	379	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCTCCCAGGGACCCAGTCAA	0.662000														15			6		5.18039e-06	8.17559e-06	0.003080	1	0
NMNAT3	349565	broad.mit.edu	37	3	139297746	139297746	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:139297746C>T	uc003etj.3	-	1	301	c.261G>A	c.(259-261)caG>caA	p.Q87Q	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.Q50Q|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	87					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TCCACTGTGCCTGCTCACTCT	0.592000														26			11		0	0	0.001855	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958295	88958295	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:88958295G>A	uc002fmm.2	-	4	995	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	CBFA2T3_uc002fml.2_Silent_p.L150L|CBFA2T3_uc010cif.1_Silent_p.L175L|CBFA2T3_uc002fmn.2_Silent_p.L211L	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	236	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ATTACCTTCAGGAAGGGAATG	0.587000			T	RUNX1	AML									22			5		0	0	0.001168	0	0
C1orf94	84970	broad.mit.edu	37	1	34677895	34677895	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34677895C>T	uc001bxt.3	+	5	2447	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	C1orf94_uc001bxs.4_Nonsense_Mutation_p.Q347*	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	347							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCCTTTTGTCCAGCCCAATTA	0.552000														24			8		0	0	0.004482	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891336	30891336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30891336C>T	uc003aid.2	-	4	428	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	SEC14L4_uc011akz.1_Missense_Mutation_p.G110S|SEC14L4_uc003aie.2_Missense_Mutation_p.G95S|SEC14L4_uc003aif.2_Missense_Mutation_p.G56S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	110	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCAGGAGACCCTTGGGGTCG	0.542000														5			51		0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76371921	76371921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:76371921G>A	uc001oxq.4	-	2	959	c.716C>T	c.(715-717)cCc>cTc	p.P239L	LRRC32_uc001oxr.4_Missense_Mutation_p.P239L|LRRC32_uc010rsf.2_Missense_Mutation_p.P239L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	239						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTCAGCCTGGGGCTGGGAGGC	0.607000														24			27		0	0	0.007291	0	0
FNIP2	57600	broad.mit.edu	37	4	159772596	159772596	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:159772596C>A	uc003iqe.4	+	7	1034	c.851C>A	c.(850-852)cCa>cAa	p.P284Q		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	284					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGCATCATCCCAAGAAGGTGA	0.493000														127			6		0.00116845	0.00183067	0.001168	1	0
GREB1	9687	broad.mit.edu	37	2	11728976	11728976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:11728976G>A	uc002rbk.1	+	9	1564	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	GREB1_uc002rbn.1_Missense_Mutation_p.E422K|GREB1_uc002rbo.1_Missense_Mutation_p.E56K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	422						integral to membrane		p.E422K(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGCATACGAGCAGTACGG	0.587000														57			23		0	0	0.004656	0	0
PEG3	5178	broad.mit.edu	37	19	57326893	57326893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57326893C>T	uc002qnu.2	-	6	3268	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	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.E944K|PEG3_uc002qnv.2_Missense_Mutation_p.E973K|PEG3_uc002qnw.2_Missense_Mutation_p.E849K|PEG3_uc002qnx.2_Missense_Mutation_p.E847K|PEG3_uc010etr.2_Missense_Mutation_p.E973K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	973					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)		TCCCCACACTCCTGACATTCA	0.468000														103			31		0	0	0.003271	0	0
ESM1	11082	broad.mit.edu	37	5	54281313	54281313	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54281313G>A	uc003jpk.3	-	0	102	c.33C>T	c.(31-33)ctC>ctT	p.L11L	ESM1_uc010ivt.3_Silent_p.L11L	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	11					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTGCAGGCACGAGGAGCGTGG	0.602000														43			5		0	0	0.000602	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960338	35960338	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:35960338G>A	uc003olm.3	-	5	852	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Silent_p.F247F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	247					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCCAAAGATGAAAGTCAGCT	0.463000														12			80		0	0	0.003610	0	0
SALL3	27164	broad.mit.edu	37	18	76754300	76754300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:76754300C>T	uc002lmt.3	+	1	2309	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	SALL3_uc010dra.3_Missense_Mutation_p.P377L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAACACGCCGCTGCCGGAG	0.627000														27			6		0	0	0.001984	0	0
USP28	57646	broad.mit.edu	37	11	113712389	113712389	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:113712389T>C	uc001poh.3	-	3	403	c.370A>G	c.(370-372)Aac>Gac	p.N124D	USP28_uc010rwy.2_5'UTR|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.N124D|USP28_uc010rwz.1_Missense_Mutation_p.N124D	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	124					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATAACCTGTTAAGATCTCTT	0.393000														8			27		0	0	0.005443	0	0
CNGA2	1260	broad.mit.edu	37	X	150911103	150911103	+	Missense_Mutation	SNP	G	A	A	rs139084709		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150911103G>A	uc004fey.1	+	5	802	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	193					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCATCCGATTGCGCACA	0.512000														11			52		0	0	0.003610	0	0
TRMT6	51605	broad.mit.edu	37	20	5923407	5923407	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:5923407G>A	uc002wmh.1	-	6	815	c.693C>T	c.(691-693)taC>taT	p.Y231Y	TRMT6_uc010zra.1_Silent_p.Y61Y|TRMT6_uc010gbn.1_Silent_p.Y61Y|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	231					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTCCTCCAGGGTATAGCTGAA	0.458000														15			50		0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124857021	124857021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:124857021G>A	uc021rga.1	-	19	2471	c.2354C>T	c.(2353-2355)cCa>cTa	p.P785L	NCOR2_uc021rgb.1_Missense_Mutation_p.P768L|NCOR2_uc010tbb.2_Missense_Mutation_p.P785L|NCOR2_uc010tbc.2_Missense_Mutation_p.P767L|NCOR2_uc021rgc.1_Missense_Mutation_p.P767L|NCOR2_uc010tba.2_Missense_Mutation_p.P785L|NCOR2_uc001ugj.1_Missense_Mutation_p.P785L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	785	Pro-rich.				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)		CTCCGGTGGTGGGGTGGGTGG	0.736000														10			6		0	0	0.001168	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558273	56558273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56558273C>T	uc001skb.3	-	26	3488	c.3382G>A	c.(3382-3384)Ggc>Agc	p.G1128S	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1128	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAGAGTGCCCGGGGCGAAC	0.592000														22			26		0	0	0.004656	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471889	47471889	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47471889C>T	uc001rpm.3	-	2	1552	c.897G>A	c.(895-897)gaG>gaA	p.E299E	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.E299E|AMIGO2_uc001rpl.3_Silent_p.E299E|AMIGO2_uc021qxg.1_Silent_p.E299E	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	299	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CGACCTGAGCCTCATGAATAA	0.498000														65			95		0	0	0.003610	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408918	79408918	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79408918C>T	uc002kaf.2	+	3	357	c.357C>T	c.(355-357)ttC>ttT	p.F119F	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	181				SSRLMGSSPASSFMGSFLTSSLGSAASTHPSGPSSSPPEQA YRGSHPTTSQIWFSHSHEA -> CWRLQGNPAAVLCVSPFI TSWLGNNRKWHFSGGRSLPFQPAVTCAGPSPFLGYYSLSQP P (in Ref. 1; AC110285).			DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCACAACTTCCCCAGCGTGG	0.677000														92			24		0	0	0.006320	0	0
MUC7	4589	broad.mit.edu	37	4	71347503	71347503	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71347503A>G	uc011cat.2	+	3	1330	c.1042A>G	c.(1042-1044)Act>Gct	p.T348A	MUC7_uc011cau.2_Missense_Mutation_p.T348A|MUC7_uc003hfj.3_Missense_Mutation_p.T348A	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	348	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TAAACAACCAACTTCAGCTCC	0.388000														33			26		0	0	0.003954	0	0
DMXL2	23312	broad.mit.edu	37	15	51742477	51742477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:51742477G>A	uc010ufy.2	-	41	8978	c.8753C>T	c.(8752-8754)tCg>tTg	p.S2918L	DMXL2_uc002abd.3_Missense_Mutation_p.S1009L|DMXL2_uc002abf.3_Missense_Mutation_p.S2917L|DMXL2_uc010bfa.3_Missense_Mutation_p.S2281L|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2917						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCTACCCCCCGAGATTAGGAG	0.488000														77			43		0	0	0.003610	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567805	99567805	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:99567805C>T	uc003dtm.3	-	4	3178	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.K905K|FILIP1L_uc010hpf.3_Silent_p.K481K|FILIP1L_uc010hpg.3_Silent_p.K665K|FILIP1L_uc003dtn.3_Silent_p.K665K|FILIP1L_uc021xbr.1_Silent_p.K665K|FILIP1L_uc003dtp.1_Silent_p.K665K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	905						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGAGTAACCTTTATATGAA	0.448000														81			133		0	0	0.003610	0	0
NTRK1	4914	broad.mit.edu	37	1	156848978	156848978	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156848978C>T	uc001fqh.1	+	14	1926	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	NTRK1_uc001fqf.1_Silent_p.L588L|NTRK1_uc009wsi.1_Silent_p.L323L|NTRK1_uc001fqi.1_Silent_p.L618L|NTRK1_uc009wsk.1_Silent_p.L621L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	624	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCCCCTGGGTCTGGGGCAGCT	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				8			24		0	0	0.003330	0	0
PTGFR	5737	broad.mit.edu	37	1	78958855	78958855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:78958855C>T	uc001din.3	+	1	693	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	PTGFR_uc001dim.3_Missense_Mutation_p.H143Y	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	143					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.H143N(3)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCAATATTTCATTCTACGAA	0.413000														38			18		0	0	0.006122	0	0
CLCN2	1181	broad.mit.edu	37	3	184075882	184075882	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184075882G>A	uc003foi.3	-	5	606	c.482_splice	c.e5-1	p.G161_splice	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Splice_Site_p.G161_splice|CLCN2_uc011brl.2_Splice_Site_p.G161_splice|CLCN2_uc011brm.2_Splice_Site_p.G117_splice|CLCN2_uc011brn.1_Splice_Site_p.G161_splice	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	161						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGATGCCAGAGCCTGGAGAGG	0.552000														66			28		0	0	0.001512	0	0
SSH2	85464	broad.mit.edu	37	17	27963649	27963649	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27963649G>A	uc002heo.1	-	13	1518	c.1518C>T	c.(1516-1518)gtC>gtT	p.V506V	SSH2_uc010wbh.1_Silent_p.V533V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	506					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCCACAAAGACAGGAGGTA	0.468000														63			35		0	0	0.007835	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409565	153409565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153409565C>T	uc010pdx.2	-	2	386	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGTGCCACTCCATGCATTAT	0.468000														173			48		0	0	0.003610	0	0
MED16	10025	broad.mit.edu	37	19	868157	868158	+	Missense_Mutation	DNP	GG	AA	AA	rs142254775		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:868157_868158GG>AA	uc002lqd.1	-	15	2728_2729	c.2577_2578CC>TT	c.(2575-2580)caccac>caTTac	p.H860Y	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	860					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGAGAGTGGTGTGTGGACT	0.688000														9			9		0	0	0.004672	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891445	4891445	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4891445C>T	uc002mbm.3	-	2	642	c.642G>A	c.(640-642)caG>caA	p.Q214Q		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	214					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ATTTGCTGGTCTGGTTGTTGA	0.557000														33			8		0	0	0.004482	0	0
PGR	5241	broad.mit.edu	37	11	100999107	100999107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:100999107G>A	uc001pgh.2	-	0	1438	c.695C>T	c.(694-696)tCt>tTt	p.S232F	PGR_uc001pgi.2_Missense_Mutation_p.S232F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	232	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGGACCCGCAGACTCCTCGGA	0.721000														18			5		0	0	0.000602	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180061	74180061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:74180061G>A	uc002avz.3	+	8	961	c.878G>A	c.(877-879)gGg>gAg	p.G293E	TBC1D21_uc010ulc.2_Missense_Mutation_p.G257E	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	293						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGCATGGGCGGGGATGACATC	0.647000														30			25		0	0	0.003954	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307585	46307585	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46307585G>A	uc002pdm.3	-	2	1749	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	RSPH6A_uc002pdl.3_Silent_p.F262F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	526	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGATGCCCTCGAAGTCCGGGT	0.652000														27			15		0	0	0.002450	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465840	50465840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:50465840G>A	uc001vdk.2	+	0	1296	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CACATATTTTGAAAGTGAGAA	0.318000														25			12		0	0	0.001368	0	0
MYH1	4619	broad.mit.edu	37	17	10415456	10415456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10415456C>T	uc002gmo.3	-	12	1295	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	401	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TAGCAGAGGGCTTTGAGCAGA	0.473000														128			57		0	0	0.003610	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590524	137590524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:137590524G>A	uc003vtw.3	-	5	1235	c.839C>T	c.(838-840)cCc>cTc	p.P280L	CREB3L2_uc003vtx.2_Missense_Mutation_p.P280L|CREB3L2_uc003vtv.3_Missense_Mutation_p.P217L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	280					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P280S(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGTGGGGATGGGATAGCCCTC	0.517000			T	FUS	fibromyxoid sarcoma									201			70		0	0	0.003610	0	0
TTLL2	83887	broad.mit.edu	37	6	167754894	167754894	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:167754894G>A	uc003qvs.1	+	2	1594	c.1506G>A	c.(1504-1506)agG>agA	p.R502R		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	502					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTCAACAAGGGAGATGCCAC	0.562000														12			22		0	0	0.002299	0	0
SVOPL	136306	broad.mit.edu	37	7	138305826	138305826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:138305826G>A	uc011kqh.2	-	12	1318	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	SVOPL_uc003vue.3_Missense_Mutation_p.R288C	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	440						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCACCAATGCGACACAGGGAG	0.582000														6			31		0	0	0.006230	0	0
FRYL	285527	broad.mit.edu	37	4	48563556	48563556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48563556G>A	uc003gyh.1	-	32	4399	c.3794C>T	c.(3793-3795)tCt>tTt	p.S1265F	FRYL_uc003gyk.3_Missense_Mutation_p.S1265F|FRYL_uc003gyi.1_Missense_Mutation_p.S154F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGAAACAGAATAGAGATG	0.438000														19			21		0	0	0.001523	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773458	35773458	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:35773458T>A	uc003olg.1	+	0	388	c.11T>A	c.(10-12)tTg>tAg	p.L4*		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	4						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ATGGTGAAATTGCTGCCGGCC	0.622000														44			16		0	0	0.007413	0	0
TTI2	80185	broad.mit.edu	37	8	33367348	33367348	+	Silent	SNP	G	A	A	rs138257989	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:33367348G>A	uc003xjl.4	-	1	1275	c.750C>T	c.(748-750)ccC>ccT	p.P250P	TTI2_uc003xjm.4_Silent_p.P250P|TTI2_uc003xjn.1_Silent_p.P250P	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	250							binding										CCAATGATGCGGGAAGTACCC	0.478000														8			20		0	0	0.001523	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173679042	173679042	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:173679042G>A	uc002uhv.4	+	3	520	c.333G>A	c.(331-333)acG>acA	p.T111T	RAPGEF4_uc002uhu.2_Silent_p.T111T|RAPGEF4_uc010fqn.3_Silent_p.T94T	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	111					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GAATTGGGACGGCCTTTGGAG	0.483000														39			26		0	0	0.001786	0	0
TRIM31	11074	broad.mit.edu	37	6	30075851	30075851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30075851C>T	uc003npg.1	-	5	972	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	288						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTAGGCTCCCTGTGATGGAG	0.433000														18			35		0	0	0.004289	0	0
DPYS	1807	broad.mit.edu	37	8	105405096	105405096	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105405096G>A	uc003yly.4	-	7	1488	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	DPYS_uc010mcf.1_Silent_p.F23F	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	453					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCGTGACACTGAACACTCCGG	0.468000														67			76		0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111765	64111765	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64111765G>A	uc001nzy.3	+	13	1801	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	CCDC88B_uc009ypo.2_Silent_p.E581E|CCDC88B_uc001nzz.1_Silent_p.E233E	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	584					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCTGTGGAGACACAGGAGT	0.642000														25			19		0	0	0.007413	0	0
WDR90	197335	broad.mit.edu	37	16	709106	709107	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:709106_709107CC>TT	uc002cii.1	+	24	3086_3087	c.3032_3033CC>TT	c.(3031-3033)gcc>gTT	p.A1011V	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A538V|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.A185V|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCCT	0.658000														54			13		0	0	0.004672	0	0
COL20A1	57642	broad.mit.edu	37	20	61941816	61941816	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61941816C>T	uc011aau.2	+	10	1447	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	COL20A1_uc011aav.2_Silent_p.I270I	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	449	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTTCCCCATCTATGAGGGCG	0.687000														10			8		0	0	0.004482	0	0
CAND1	55832	broad.mit.edu	37	12	67696296	67696296	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:67696296C>T	uc001stn.2	+	7	1631	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	CAND1_uc001sto.2_Silent_p.Y76Y	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	398					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCACGCATACCTTTCTCTTT	0.423000														167			16		0	0	0.004990	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378227	31378227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31378227G>A	uc003tch.3	-	1	1009	c.656C>T	c.(655-657)cCc>cTc	p.P219L	NEUROD6_uc022abi.1_Missense_Mutation_p.P219L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	219					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						ATGCCCTGGGGGAGTGGTGAG	0.527000														92			32		0	0	0.005524	0	0
NR2E3	10002	broad.mit.edu	37	15	72104678	72104678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72104678G>A	uc002ati.3	+	4	764	c.574G>A	c.(574-576)Gat>Aat	p.D192N	NR2E3_uc002ath.1_Missense_Mutation_p.D192N	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	192					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TCCAACAGCTGATGAGAATAT	0.597000														92			24		0	0	0.005443	0	0
TTC7A	57217	broad.mit.edu	37	2	47288087	47288087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:47288087G>A	uc010fbb.3	+	19	2772	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S	TTC7A_uc002rvm.3_Missense_Mutation_p.G744S|TTC7A_uc002rvo.3_Missense_Mutation_p.G778S|TTC7A_uc010fbc.3_Missense_Mutation_p.G424S|TTC7A_uc002rvp.3_Missense_Mutation_p.G659S|TTC7A_uc002rvq.3_Missense_Mutation_p.G518S|TTC7A_uc002rvr.3_Missense_Mutation_p.G227S	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	778							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAACCCAGATGGCGTGCGCAT	0.627000														14			4		0	0	0.000248	0	0
PRKG1	5592	broad.mit.edu	37	10	53814296	53814296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:53814296C>T	uc001jjm.3	+	5	998	c.770C>T	c.(769-771)aCc>aTc	p.T257I	PRKG1_uc001jjn.2_Missense_Mutation_p.T272I|PRKG1_uc001jjo.3_Missense_Mutation_p.T272I|PRKG1_uc009xow.2_5'UTR	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	257					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAGGGGACACCTTCTTTATC	0.413000														41			10		0	0	0.001855	0	0
PVRL4	81607	broad.mit.edu	37	1	161049730	161049730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161049730G>A	uc001fxo.2	-	1	388	c.89C>T	c.(88-90)cCc>cTc	p.P30L		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	30					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCACCCGCGGGGCACCGGCC	0.632000														45			29		0	0	0.003271	0	0
CDA	978	broad.mit.edu	37	1	20931499	20931499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20931499G>A	uc001bdk.3	+	1	412	c.233G>A	c.(232-234)gGg>gAg	p.G78E	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Intron	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	78					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTCTCAGAAGGGTACAAGGAT	0.498000														17			11		0	0	0.001855	0	0
ZNF594	84622	broad.mit.edu	37	17	5086309	5086309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5086309G>A	uc010cla.1	-	1	1399	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	ZNF594_uc021tol.1_Nonsense_Mutation_p.Q415*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTGAGCTCTGATTGAAAGTT	0.413000														128			26		0	0	0.005443	0	0
GEMIN5	25929	broad.mit.edu	37	5	154307058	154307058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154307058G>A	uc003lvx.3	-	6	1050	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	GEMIN5_uc011ddk.1_Missense_Mutation_p.L322F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	323					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCACTGAAGAGGGTGTATTTC	0.373000														36			34		0	0	0.005524	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721977	24721977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:24721977G>A	uc001iru.4	+	3	1010	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	KIAA1217_uc001irs.3_Missense_Mutation_p.E123K|KIAA1217_uc001irt.4_Missense_Mutation_p.E203K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E203K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E203K|KIAA1217_uc001irv.1_Missense_Mutation_p.E53K|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	203					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GATGCCGAATGAAATCACAAG	0.483000														14			9		0	0	0.001855	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316651	39316651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39316651G>A	uc002hwc.3	-	0	333	c.293C>T	c.(292-294)aCc>aTc	p.T98I		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	98	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCAGGTGGTCCTACAGCA	0.657000														40			16		0	0	0.006122	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597558	136597558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136597558C>T	uc003qgx.1	-	4	1358	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	BCLAF1_uc003qgy.1_Missense_Mutation_p.G367R|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G367R|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	369					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCCCTCCCTTTCTCTGAT	0.428000														168			66		0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:166924680G>A	uc003irh.2	+	5	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_uc021xud.1_Missense_Mutation_p.R257Q|TLL1_uc011cjn.2_Missense_Mutation_p.R257Q|TLL1_uc011cjo.2_Missense_Mutation_p.R81Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408000														35			14		0	0	0.003163	0	0
CDHR2	54825	broad.mit.edu	37	5	176011703	176011704	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176011703_176011704CC>TT	uc021yie.1	+	18	2695_2696	c.2421_2422CC>TT	c.(2419-2424)accctg>acTTtg	p.807_808TL>TL	CDHR2_uc003mem.2_Silent_p.807_808TL>TL|CDHR2_uc003men.1_Silent_p.807_808TL>TL	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	807	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCCCCCCACCCTGGATGTAGC	0.594000														117			20		0	0	0.004672	0	0
ASIC4	55515	broad.mit.edu	37	2	220402443	220402443	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220402443G>A	uc002vlz.3	+	8	2046	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	ASIC4_uc002vma.3_Silent_p.Q605Q|ASIC4_uc002vmb.3_3'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	605						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGGGGCTTCAGGAGCTGAAGG	0.582000														5			7		0	0	0.004482	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322376	103322376	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103322376G>A	uc002tca.3	+	10	2191	c.2049G>A	c.(2047-2049)agG>agA	p.R683R		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	683						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TACAAAAGAGGAGGACTATTT	0.294000														33			12		0	0	0.001855	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662767	40662767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40662767C>T	uc011aor.2	+	4	2744	c.2533C>T	c.(2533-2535)Cca>Tca	p.P845S	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.P845S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P649S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	845	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						AGGCCCACCCCCACCACCTCC	0.612000														46			8		0	0	0.003080	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383128	41383128	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41383128C>T	uc002opm.3	-	6	1670	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CYP2A7_uc002opo.3_Silent_p.K376K|CYP2A7_uc002opn.3_Silent_p.K325K	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	376						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.K376fs*24(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)			ACTTGGTGTCCTTTTTAACCC	0.542000														83			24		0	0	0.004656	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432573	73432573	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:73432573T>C	uc003dpl.1	-	9	3240	c.3144A>G	c.(3142-3144)acA>acG	p.T1048T	PDZRN3_uc011bgh.1_Silent_p.T705T|PDZRN3_uc010hoe.1_Silent_p.T746T|PDZRN3_uc021xaq.1_Silent_p.T341T|PDZRN3_uc011bgf.1_Silent_p.T765T|PDZRN3_uc011bgg.1_Silent_p.T768T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	1048							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGGGGATTTTGTGCCGTGGG	0.408000														99			30		0	0	0.001512	0	0
ITGAD	3681	broad.mit.edu	37	16	31435806	31435806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31435806G>A	uc010cap.1	+	28	3332	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	ITGAD_uc002ebv.1_Missense_Mutation_p.E1094K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1094					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E1094K(2)		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						GGTGCTAGAAGAAGACGAGGT	0.542000														39			10		0	0	0.000673	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855155	79855155	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79855155G>A	uc010jam.3	-	3	1034	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ANKRD34B_uc003kgw.3_Silent_p.S228S|ANKRD34B_uc010jan.3_Silent_p.S228S|ANKRD34B_uc021yax.1_Silent_p.S228S	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	228						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCCTCACAGGGGAACCTGGGT	0.527000														57			7		0	0	0.001984	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805795	50805795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:50805795C>T	uc003pag.3	+	4	1095	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	310					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTACTCACCTCCCTGGTGGAA	0.483000														60			21		0	0	0.001523	0	0
STYK1	55359	broad.mit.edu	37	12	10782194	10782194	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10782194C>T	uc001qys.2	-	5	1052	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	177	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCAGCTGCACCAGGTTTTTGT	0.527000										HNSCC(73;0.22)				38			8		0	0	0.006214	0	0
ABCB5	340273	broad.mit.edu	37	7	20793056	20793056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:20793056G>A	uc010kuh.3	+	26	3740	c.3503G>A	c.(3502-3504)aGg>aAg	p.R1168K	ABCB5_uc003suw.4_Missense_Mutation_p.R723K	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	723					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						GCTATTGCAAGGGCTCTTCTC	0.408000														45			63		0	0	0.003610	0	0
ZNF669	79862	broad.mit.edu	37	1	247263852	247263852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247263852G>A	uc001ice.2	-	3	1392	c.1219C>T	c.(1219-1221)Ctc>Ttc	p.L407F	ZNF669_uc001icf.2_Missense_Mutation_p.L321F	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTTTCGTGGAGGTGAAGGGAA	0.428000														40			86		0	0	0.003610	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480344	102480344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:102480344C>T	uc002tbc.3	+	16	2306	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S558F|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S538F|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	577					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGATCCCATTCCTTCAGTGAC	0.493000														152			167		0	0	0.003610	0	0
CNGA2	1260	broad.mit.edu	37	X	150912737	150912737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150912737G>A	uc004fey.1	+	6	1986	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	588					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547000														16			74		0	0	0.003610	0	0
SLTM	79811	broad.mit.edu	37	15	59180621	59180621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59180621G>A	uc002afp.3	-	16	2426	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	SLTM_uc002afn.3_Missense_Mutation_p.P322S|SLTM_uc002afo.3_Missense_Mutation_p.P762S|SLTM_uc002afq.3_Missense_Mutation_p.P349S|SLTM_uc010bgd.3_Missense_Mutation_p.P349S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	780	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAACTCTCAGGAAACCTGCCC	0.403000														124			15		0	0	0.006122	0	0
PIF1	80119	broad.mit.edu	37	15	65113580	65113580	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65113580C>T	uc002ant.2	-	4	1023	c.957G>A	c.(955-957)ctG>ctA	p.L319L	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_Silent_p.L10L|PIF1_uc010uiq.1_Silent_p.L319L	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	319	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACGGCCTCCAGTTTGTCAA	0.607000														95			59		0	0	0.003610	0	0
C12orf44	60673	broad.mit.edu	37	12	52470668	52470668	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52470668C>T	uc001rzu.4	+	3	826	c.351C>T	c.(349-351)atC>atT	p.I117I	C12orf44_uc009zmd.3_Silent_p.I117I|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	117					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACGAGTGCATCCCATGGGAAG	0.592000														48			17		0	0	0.006122	0	0
EIF5	1983	broad.mit.edu	37	14	103805664	103805664	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:103805664C>T	uc001ymt.3	+	7	1395	c.900C>T	c.(898-900)ttC>ttT	p.F300F	EIF5_uc001ymq.3_Silent_p.F300F|EIF5_uc001ymr.3_Silent_p.F300F|EIF5_uc001ymu.3_Silent_p.F300F	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	300	W2.				RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GGCGCCATTTCCTACGAGTAA	0.398000														16			47		0	0	0.003610	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083671	42083671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42083671C>T	uc002ore.4	+	1	280	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.L62F	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	62						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCCGAGAATCTTTACAGCTA	0.502000														39			15		0	0	0.003163	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250735	36250735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:36250735C>T	uc001mwk.1	+	5	863	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	LDLRAD3_uc010rey.1_Missense_Mutation_p.P227S|LDLRAD3_uc010rez.1_Missense_Mutation_p.P155S|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	276	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTTCCTCCACCGCCCTACTC	0.617000														26			105		0	0	0.003610	0	0
NEK10	152110	broad.mit.edu	37	3	27393991	27393991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:27393991G>A	uc003cdt.2	-	3	371	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	NEK10_uc021wuk.1_Missense_Mutation_p.R33W	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	33							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAAGGCACCGAAGTCTTTTA	0.413000														25			33		0	0	0.002836	0	0
ZNF606	80095	broad.mit.edu	37	19	58489985	58489985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58489985G>A	uc002qqw.3	-	6	2681	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	ZNF606_uc010yhp.2_Missense_Mutation_p.S598F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTAAAGGATCTTTCACA	0.403000														24			46		0	0	0.003214	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953849	10953849	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:10953849T>A	uc003bvz.3	+	6	1000	c.966T>A	c.(964-966)agT>agA	p.S322R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	322					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGGGAAGTTATAACAATT	0.512000														83			26		0	0	0.007291	0	0
PARN	5073	broad.mit.edu	37	16	14698029	14698029	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14698029C>G	uc010uzd.2	-	10	903	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PARN_uc010uzc.2_Missense_Mutation_p.E192Q|PARN_uc010uze.2_Missense_Mutation_p.E207Q|PARN_uc010uzf.2_Missense_Mutation_p.E78Q|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	253					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTCTGCTGCTCTCTTCTTTTG	0.338000														18			3		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179632880	179632880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179632880G>A	uc021vsy.1	-	38	9391	c.9166C>T	c.(9166-9168)Cgt>Tgt	p.R3056C	TTN_uc021vsz.1_Missense_Mutation_p.R3010C|TTN_uc021vta.1_Missense_Mutation_p.R3010C|TTN_uc021vtb.1_Missense_Mutation_p.R3010C|TTN_uc002unb.2_Missense_Mutation_p.R3056C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3056							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)			TCTATATGACGAGCTGGAAAA	0.323000														13			8		0	0	0.003080	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069125	102069125	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:102069125C>T	uc001tii.3	+	24	2984	c.2844C>T	c.(2842-2844)gtC>gtT	p.V948V	MYBPC1_uc001tig.3_Silent_p.V955V|MYBPC1_uc010svr.2_Silent_p.V930V|MYBPC1_uc010svs.2_Silent_p.V948V|MYBPC1_uc001tij.3_Silent_p.V930V|MYBPC1_uc010svt.2_Silent_p.V918V|MYBPC1_uc010svu.2_Silent_p.V911V|MYBPC1_uc001tik.3_Silent_p.V904V|MYBPC1_uc001tih.3_Silent_p.V955V|MYBPC1_uc010svq.2_Silent_p.V917V|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	948	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGAAAATGTCGCTCTCACAT	0.478000														11			15		0	0	0.006122	0	0
TRIM63	84676	broad.mit.edu	37	1	26393949	26393949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26393949G>A	uc001bli.1	-	0	173	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	13						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCATGGGATTCCCATCC	0.522000														26			8		0	0	0.000673	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582423	136582423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136582423C>T	uc003qgx.1	-	11	2990	c.2737G>A	c.(2737-2739)Gac>Aac	p.D913N	BCLAF1_uc011edb.1_Missense_Mutation_p.D192N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D862N|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.D911N|BCLAF1_uc003qgw.1_Missense_Mutation_p.D740N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	913					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCGTCTGTCCTTCTTTTCT	0.348000														101			11		0	0	0.001855	0	0
ITPKC	80271	broad.mit.edu	37	19	41235202	41235203	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41235202_41235203CC>TT	uc002oot.3	+	2	1384_1385	c.1351_1352CC>TT	c.(1351-1353)cct>TTt	p.P451F		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	451						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGCTGCGACCTTTCGTGCCT	0.559000														35			16		0	0	0.004672	0	0
C18orf54	162681	broad.mit.edu	37	18	51888159	51888159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:51888159C>T	uc002lfo.4	+	1	476	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	C18orf54_uc002lfn.4_Missense_Mutation_p.P144S	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	144						extracellular region		p.P144P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTATGTTGGACCGAGTCACCG	0.418000														29			6		0	0	0.003080	0	0
RGS12	6002	broad.mit.edu	37	4	3319756	3319756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:3319756G>A	uc003ggw.3	+	1	2763	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	RGS12_uc003ggu.2_Missense_Mutation_p.R620Q|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.R620Q|RGS12_uc003ggx.1_Missense_Mutation_p.R620Q	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAAATGTTCGAAAGACTAAG	0.582000														52			28		0	0	0.006320	0	0
CTNND1	1500	broad.mit.edu	37	11	57577603	57577603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57577603C>T	uc001nmc.4	+	15	3029	c.2458C>T	c.(2458-2460)Cga>Tga	p.R820*	CTNND1_uc001nlf.2_Nonsense_Mutation_p.R820*|CTNND1_uc021qjk.1_Nonsense_Mutation_p.R814*|CTNND1_uc001nlh.1_Nonsense_Mutation_p.R820*|CTNND1_uc001nlj.4_Nonsense_Mutation_p.R760*|CTNND1_uc001nlq.4_Nonsense_Mutation_p.R719*|CTNND1_uc001nlr.4_Nonsense_Mutation_p.R760*|CTNND1_uc001nln.4_Nonsense_Mutation_p.R814*|CTNND1_uc001nli.4_Nonsense_Mutation_p.R814*|CTNND1_uc001nlo.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nlp.4_Nonsense_Mutation_p.R760*|CTNND1_uc001nlu.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nlt.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nlv.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nls.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nlw.4_Nonsense_Mutation_p.R713*|CTNND1_uc001nmf.4_Nonsense_Mutation_p.R820*|CTNND1_uc001nlx.4_Nonsense_Mutation_p.R497*|CTNND1_uc001nlz.4_Nonsense_Mutation_p.R497*|CTNND1_uc009ymn.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nly.4_Nonsense_Mutation_p.R491*|CTNND1_uc001nmb.4_Nonsense_Mutation_p.R491*|CTNND1_uc001nma.4_Nonsense_Mutation_p.R491*|CTNND1_uc001nmd.4_Nonsense_Mutation_p.R766*|CTNND1_uc001nlk.4_Nonsense_Mutation_p.R766*|CTNND1_uc001nme.4_Nonsense_Mutation_p.R814*|CTNND1_uc001nll.4_Nonsense_Mutation_p.R760*|CTNND1_uc001nlm.4_Nonsense_Mutation_p.R814*|CTNND1_uc001nmi.4_Nonsense_Mutation_p.R719*|CTNND1_uc001nmg.4_Nonsense_Mutation_p.R760*|CTNND1_uc001nmh.4_Nonsense_Mutation_p.R814*	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	820					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAAAGAAGTTCGAGCAGCAGC	0.398000														37			12		0	0	0.001368	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561547	32561547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:32561547C>T	uc001wrl.3	+	1	1911	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F	ARHGAP5_uc001wrm.3_Missense_Mutation_p.L558F|ARHGAP5_uc001wrn.3_Missense_Mutation_p.L558F|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.	558					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)		AGAAACATGTCTTAGTGGCCA	0.368000														23			33		0	0	0.006230	0	0
DDC	1644	broad.mit.edu	37	7	50607616	50607616	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50607616G>A	uc003tpg.4	-	2	513	c.312C>T	c.(310-312)tcC>tcT	p.S104S	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.S104S|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Silent_p.S104S|DDC_uc022add.1_Silent_p.S104S|DDC_uc022adf.1_Silent_p.S104S|LOC100129427_uc022adg.1_Non-coding_Transcript	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	104	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCCTCACCCAGGAGAAGCCGA	0.652000														33			7		0	0	0.003080	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15874796C>T	uc001aws.3	+	6	1016	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_uc001awr.1_Missense_Mutation_p.S299L|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000														25			18		0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62291528	62291529	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62291528_62291529GG>AC	uc001ntl.3	-	4	10660_10661	c.10360_10361CC>GT	c.(10360-10362)cca>GTa	p.P3454V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3454					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTGACTTCTGGTGCCTTAATA	0.416000														85			19		0	0	0.004672	0	0
MOXD1	26002	broad.mit.edu	37	6	132645139	132645139	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:132645139G>A	uc003qdf.3	-	6	1143	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	MOXD1_uc003qde.3_Silent_p.F280F	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	348					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGATGGTATGGAAGAGGCTCA	0.488000														32			19		0	0	0.007413	0	0
CAD	790	broad.mit.edu	37	2	27456983	27456983	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27456983C>T	uc002rji.3	+	21	3669	c.3507C>T	c.(3505-3507)acC>acT	p.T1169T	CAD_uc010eyw.3_Silent_p.T1106T	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1169	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'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			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)	CGCTGGTGACCCCCCCACAAG	0.577000														33			17		0	0	0.004007	0	0
ICOS	29851	broad.mit.edu	37	2	204820433	204820433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:204820433C>T	uc002vam.3	+	1	200	c.133C>T	c.(133-135)Cct>Tct	p.P45S	ICOS_uc010zip.1_Missense_Mutation_p.P45S|ICOS_uc010fua.3_Missense_Mutation_p.P45S	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	Homo sapiens inducible T-cell co-stimulator (ICOS), mRNA.	45	Ig-like V-type.				T cell costimulation|immune response	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						ATGCAAATATCCTGACATTGT	0.368000														32			26		0	0	0.007291	0	0
PRX	57716	broad.mit.edu	37	19	40902667	40902667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40902667G>A	uc002onr.3	-	6	1861	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	PRX_uc002onq.3_Missense_Mutation_p.P392L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	531	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCACCTTTGGGAGTTTCAT	0.562000														76			86		0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965835	35965835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:35965835G>A	uc003jjv.2	-	3	689	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.L166F|UGT3A1_uc011cor.2_Missense_Mutation_p.L132F|UGT3A1_uc003jjy.2_Missense_Mutation_p.L112F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	166						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGTGGGAAGAATGGCCACA	0.433000														42			9		0	0	0.004482	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143380	61143380	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61143380C>T	uc002ycy.3	-	4		c.1301G>A			C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA.																		GGTGTCTGCCCCGTCGGCTGA	0.647000														31			7		0	0	0.003080	0	0
PRB2	653247	broad.mit.edu	37	12	11546491	11546491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11546491C>T	uc010shk.1	-	2	556	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.R153L(1)|p.R174L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.607000														80			118		0	0	0.003610	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18736664	18736664	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:18736664G>A	uc010exr.3	-	8	1858	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Silent_p.F268F	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ACACCAAATTGAAGAGTGGTT	0.453000														113			45		0	0	0.002852	0	0
CACNA1S	779	broad.mit.edu	37	1	201039492	201039492	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201039492G>A	uc001gvv.3	-	16	2495	c.2268C>T	c.(2266-2268)ccC>ccT	p.P756P		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	756					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACGTGGTCGGGGGCTCAGCG	0.582000														96			22		0	0	0.002780	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600668	31600668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31600668G>A	uc002wyj.3	+	3	457	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	88						extracellular region	lipid binding										GCTGGTTTCGGAGTGCGCCTG	0.532000														226			47		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10398382	10398382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10398382C>T	uc002gmo.3	-	36	5426	c.5332G>A	c.(5332-5334)Gac>Aac	p.D1778N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1778						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						GCGCTGGTGTCCTGTTCCTTC	0.507000														136			29		0	0	0.003271	0	0
PHF2	5253	broad.mit.edu	37	9	96429433	96429433	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96429433C>T	uc004aub.3	+	16	2406	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	PHF2_uc011lug.1_Silent_p.V636V|PHF2_uc004auc.3_Silent_p.V173V	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	753					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ATGCCAGAGTCAAGAAGGAGA	0.642000														17			14		0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237796890	237796890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237796890C>T	uc001hyl.1	+	42	6688	c.6568C>T	c.(6568-6570)Ccc>Tcc	p.P2190S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2190	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.M2190I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATCACCTTTCCCAAGATGGT	0.388000														216			68		0	0	0.003610	0	0
ROR1	4919	broad.mit.edu	37	1	64643679	64643679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:64643679C>T	uc001dbj.2	+	8	2354	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGAGTAAGTCCTTGCTGCCC	0.453000														39			22		0	0	0.002780	0	0
RAB5C	5878	broad.mit.edu	37	17	40278855	40278855	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40278855G>A	uc010cxx.3	-	5	909	c.552C>T	c.(550-552)gcC>gcT	p.A184A	RAB5C_uc002hyz.3_Silent_p.A151A|RAB5C_uc002hza.3_Silent_p.A151A	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	151					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGTCTGCATAGGCTTGTGCTT	0.512000														114			62		0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:81719572G>A	uc001szo.2	-	21	2787	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.R802*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.R777*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.R858*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.R876*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.R443*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.R93*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	802								p.R876*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTCTTCGATCCTTCTCA	0.393000														4			25		0	0	0.004656	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300270	99300270	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:99300270T>C	uc003htw.4	+	4	657	c.467T>C	c.(466-468)tTg>tCg	p.L156S	RAP1GDS1_uc003htx.4_Missense_Mutation_p.L155S|RAP1GDS1_uc003htv.4_Missense_Mutation_p.L156S|RAP1GDS1_uc003htz.4_Intron|RAP1GDS1_uc003hty.4_Intron|RAP1GDS1_uc003hua.4_Intron	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	155							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAGAAGCTCTTGACTGTCTTT	0.403000			T	NUP98	T-ALL									26			33		0	0	0.007835	0	0
VPS13C	54832	broad.mit.edu	37	15	62161787	62161787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:62161787C>T	uc002agz.3	-	79	10751	c.10660G>A	c.(10660-10662)Gga>Aga	p.G3554R	VPS13C_uc002aha.3_Missense_Mutation_p.G3511R|VPS13C_uc002ahb.2_Missense_Mutation_p.G3554R|VPS13C_uc002ahc.2_Missense_Mutation_p.G3511R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3554					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCCAATTCCTTTAAAGAAT	0.438000														88			34		0	0	0.006999	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731861	96731861	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96731861G>A	uc001kka.4	+	6	845	c.820_splice	c.e6-1	p.E274_splice	CYP2C9_uc009xut.3_Intron	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	274					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCATTCCTAGGAAAAGCACAA	0.353000														47			29		0	0	0.007291	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645387	94645387	+	Missense_Mutation	SNP	T	G	G	rs138781972		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94645387T>G	uc001dqj.4	-	19	2743	c.2374A>C	c.(2374-2376)Atg>Ctg	p.M792L	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.M358L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	792	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.M792V(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTATACACATATTTGGCCAT	0.308000														37			33		0	0	0.003271	0	0
CHAT	1103	broad.mit.edu	37	10	50860052	50860052	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50860052G>A	uc001jhz.2	+	11	1787	c.1634_splice	c.e11+1	p.R545_splice	CHAT_uc001jhv.1_Splice_Site_p.R427_splice|CHAT_uc001jhx.1_Splice_Site_p.R427_splice|CHAT_uc001jhy.1_Splice_Site_p.R427_splice|CHAT_uc001jia.2_Splice_Site_p.R463_splice|CHAT_uc010qgs.1_Splice_Site_p.R427_splice	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	545					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCTTCTACAGGTGAGTGAAG	0.512000														22			11		0	0	0.000978	0	0
FFAR3	2865	broad.mit.edu	37	19	35849881	35849881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35849881C>T	uc002nzd.3	+	1	164	c.89C>T	c.(88-90)cCc>cTc	p.P30L	FFAR3_uc021usm.1_Missense_Mutation_p.P30L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	30						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGGCTCCCCCTCAACCTG	0.647000														49			37		0	0	0.003610	0	0
CHGB	1114	broad.mit.edu	37	20	5904347	5904347	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:5904347G>A	uc002wmg.3	+	3	1863	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	CHGB_uc010zqz.2_Silent_p.G202G	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	519						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAGATTAGGGGAACTGTTCA	0.448000														4			7		0	0	0.003080	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529337	102529337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:102529337C>T	uc022cbm.1	-	0	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E	TCEAL5_uc004ejz.2_Missense_Mutation_p.G52E	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA.	52	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ctctcgctttccctcgcattc	0.522000														4			23		0	0	0.001882	0	0
GPR125	166647	broad.mit.edu	37	4	22414874	22414874	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22414874A>G	uc003gqm.1	-	13	2428	c.2163T>C	c.(2161-2163)caT>caC	p.H721H	GPR125_uc010ieo.1_Silent_p.H577H	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	721	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AATAGAGTATATGGCACCCAT	0.438000														71			35		0	0	0.004289	0	0
EIF2C3	192669	broad.mit.edu	37	1	36437823	36437823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36437823C>T	uc001bzp.3	+	3	856	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	EIF2C3_uc001bzn.1_Missense_Mutation_p.P171S|EIF2C3_uc001bzq.3_5'UTR	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	171					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGACATCTGCCCTCCATGAA	0.453000														15			3		0	0	0.004672	0	0
MORC1	27136	broad.mit.edu	37	3	108724056	108724056	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108724056A>G	uc003dxl.3	-	18	1961	c.1874T>C	c.(1873-1875)aTa>aCa	p.I625T	MORC1_uc011bhn.2_Missense_Mutation_p.I604T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	625					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						TGTCTCTTCTATGTTTCTTTT	0.388000														43			14		0	0	0.002450	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732960	30732960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:30732960C>T	uc003ceo.3	+	6	1955	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	TGFBR2_uc003cen.3_Missense_Mutation_p.P550S	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	525	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.D524N(1)|p.D524Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGACCACGACCCAGAGGCCCG	0.607000														36			13		0	0	0.002450	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	108190	108190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000213.1:108190C>T	uc011mfl.1	-	10	1639	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	531						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCAATTTCTTCCTGCAACACG	0.358000														23			14		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9049655	9049655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9049655G>A	uc002mkp.3	-	4	32180	c.31976C>T	c.(31975-31977)tCg>tTg	p.S10659L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10661	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						ATCTGTCCCCGAAATAGTGAC	0.498000														44			17		0	0	0.004990	0	0
COLEC12	81035	broad.mit.edu	37	18	335150	335150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:335150C>T	uc002kkm.3	-	5	1623	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	470	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCCTTCTCTCCTTTCTGTCCC	0.617000														6			28		0	0	0.006320	0	0
TRIM60	166655	broad.mit.edu	37	4	165961360	165961360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:165961360G>A	uc003iqy.1	+	2	306	c.136G>A	c.(136-138)Gat>Aat	p.D46N	TRIM60_uc010iqx.1_Missense_Mutation_p.D46N|TRIM60_uc021xty.1_Missense_Mutation_p.D46N	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	46						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATCCTGGAAGGATCTAGATGA	0.493000														81			30		0	0	0.001786	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786550	19786550	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:19786550C>T	uc003zoa.2	-	0	468	c.315G>A	c.(313-315)aaG>aaA	p.K105K	SLC24A2_uc003zob.2_Silent_p.K105K	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	105					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACTCGCCTTCCTTAGAAAGAG	0.453000														18			28		0	0	0.001786	0	0
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34148669C>T	uc004ddg.3	-	0	1779	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	576								p.R576Q(4)		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						GTAGGATGCTCGAATCTTGGG	0.512000														4			34		0	0	0.003271	0	0
PIAS3	10401	broad.mit.edu	37	1	145578202	145578202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145578202G>A	uc001eoc.1	+	1	256	c.165G>A	c.(163-165)atG>atA	p.M55I	PIAS3_uc010oyy.1_Missense_Mutation_p.M46I|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	55					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.R55H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGTCCAGATGAAGATCAAAG	0.587000														57			119		0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152461226	152461226	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152461226G>A	uc021zhb.1	-	137	25540	c.25317C>T	c.(25315-25317)ctC>ctT	p.L8439L	SYNE1_uc003qos.4_Silent_p.L2963L|SYNE1_uc003qot.4_Silent_p.L8391L|SYNE1_uc003qou.4_Silent_p.L8439L|SYNE1_uc011eez.2_Silent_p.L641L|SYNE1_uc003qoq.4_Silent_p.L641L|SYNE1_uc003qor.4_Silent_p.L1362L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8439					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCACTTCTGGAGGTTCTGCT	0.547000										HNSCC(10;0.0054)				43			22		0	0	0.002299	0	0
NDNF	79625	broad.mit.edu	37	4	121966872	121966872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:121966872G>A	uc003idq.1	-	1	648	c.121C>T	c.(121-123)Cat>Tat	p.H41Y		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	41										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GACGAATCATGAAAAAATGCC	0.433000														34			16		0	0	0.004990	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511160	64511160	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:64511160G>A	uc003jtp.3	-	18	3241	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.L430L	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	809	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCATGACGATGAGATTTTCTG	0.428000														64			11		0	0	0.001855	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963128	88963128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:88963128G>A	uc011khi.2	+	3	1370	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	278						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCTTACCAAGGAAAAAGAGGT	0.358000										HNSCC(36;0.09)				61			10		0	0	0.000673	0	0
SNTA1	6640	broad.mit.edu	37	20	31997998	31997998	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31997998G>T	uc002wzd.1	-	5	1452	c.1180C>A	c.(1180-1182)Cgc>Agc	p.R394S	SNTA1_uc010zuf.1_Missense_Mutation_p.R319S	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	394	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACAAGCTGGCGGGTCCAGGCA	0.637000														20			10		4.3838e-07	6.92191e-07	0.001855	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136405855	136405855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:136405855G>A	uc011mdl.2	+	5	1105	c.548G>A	c.(547-549)gGa>gAa	p.G183E	ADAMTSL2_uc004cei.3_Missense_Mutation_p.G183E	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	183					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCGTGTCTGGAAAATGTGAG	0.647000														30			18		0	0	0.001216	0	0
NID2	22795	broad.mit.edu	37	14	52485933	52485933	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:52485933G>A	uc001wzo.3	-	13	3108	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	NID2_uc010tqs.2_Silent_p.F910F|NID2_uc010tqt.1_Silent_p.F958F|NID2_uc001wzp.3_Silent_p.F958F	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	958	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGGGATGTGGAACCGGGCCC	0.602000														4			15		0	0	0.001523	0	0
MIB1	57534	broad.mit.edu	37	18	19429261	19429261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:19429261C>T	uc002ktq.3	+	16	2498	c.2498C>T	c.(2497-2499)cCa>cTa	p.P833L	MIB1_uc002ktp.3_Missense_Mutation_p.P472L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	833					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTTTTGGTCCATGTGGACAT	0.393000														105			45		0	0	0.003610	0	0
LTN1	26046	broad.mit.edu	37	21	30365230	30365230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:30365230C>T	uc002ymr.2	-	0	48	c.35G>A	c.(34-36)gGa>gAa	p.G12E		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTAATAACTTCCCCCGGGCCC	0.642000														3			4		0	0	0.000248	0	0
ABI3	51225	broad.mit.edu	37	17	47295266	47295266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:47295266C>T	uc002iop.1	+	2	949	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	ABI3_uc002ioq.1_Missense_Mutation_p.H145Y	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	151					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGACATTGGCCATGGGATCAA	0.617000										HNSCC(55;0.14)				52			40		0	0	0.003610	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375101	113375101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:113375101C>T	uc003eam.3	-	6	5839	c.5428G>A	c.(5428-5430)Gac>Aac	p.D1810N	KIAA2018_uc003eal.3_Missense_Mutation_p.D1754N	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1810					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTTCACTGTCCCTTGATGGA	0.463000														84			112		0	0	0.003610	0	0
DROSHA	29102	broad.mit.edu	37	5	31526613	31526613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526613G>A	uc003jhg.2	-	3	786	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	DROSHA_uc003jhh.2_Missense_Mutation_p.P143S|DROSHA_uc003jhi.2_Missense_Mutation_p.P143S|DROSHA_uc010iui.1_Missense_Mutation_p.P134S	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	143	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATCATGAAGGGGAAAGTGCCT	0.587000														14			5		0	0	0.000602	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748298	68748298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:68748298C>T	uc010rqf.2	-	0	158	c.158G>A	c.(157-159)gGc>gAc	p.G53D		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	53						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATTCGAAAGCCCAGCAGCCA	0.602000														29			14		0	0	0.002450	0	0
HRG	3273	broad.mit.edu	37	3	186383882	186383882	+	Missense_Mutation	SNP	C	T	T	rs141595547	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:186383882C>T	uc003fqq.3	+	0	85	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	21	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCCGTGAGTCCCACTGACTGC	0.493000														44			24		0	0	0.003330	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30419644C>T	uc002wwq.2	+	10	1665	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_uc002wws.2_Silent_p.I138I|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000														24			41		0	0	0.001951	0	0
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:72423533G>A	uc001osu.3	-	5	1017	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_uc001osv.3_Silent_p.D276D|ARAP1_uc001osr.3_Silent_p.D36D|ARAP1_uc001oss.3_Silent_p.D31D|ARAP1_uc009yth.3_Silent_p.D31D|ARAP1_uc010rre.2_Silent_p.D31D	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682000														195			86		0	0	0.003610	0	0
KLK3	354	broad.mit.edu	37	19	51361325	51361325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51361325C>T	uc021uyi.1	+	2	288	c.247C>T	c.(247-249)Cct>Tct	p.P83S	KLK3_uc002pts.1_Missense_Mutation_p.P83S|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	83	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGTTTCATCCTGAAGACAC	0.542000														15			15		0	0	0.006122	0	0
TAL1	6886	broad.mit.edu	37	1	47685433	47685433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47685433G>A	uc001cqx.2	-	3	1532	c.955C>T	c.(955-957)Cct>Tct	p.P319S	TAL1_uc009vyq.2_Silent_p.I75I|TAL1_uc001cqy.2_Missense_Mutation_p.P319S	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	319					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCATGGCAGGATGGAGGCTG	0.697000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									29			12		0	0	0.003163	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801111	185801111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185801111C>T	uc002uph.3	+	3	1582	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	330						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAATTCAGTCCCATTAGCAGA	0.323000														11			13		0	0	0.001855	0	0
MMP19	4327	broad.mit.edu	37	12	56236179	56236179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56236179C>T	uc001sib.3	-	1	252	c.131G>A	c.(130-132)gGa>gAa	p.G44E	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.G44E	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	44					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTTATTAGATCCTTCTAGAGG	0.458000														313			32		0	0	0.007835	0	0
HAAO	23498	broad.mit.edu	37	2	43015689	43015689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43015689G>A	uc002rst.4	-	1	214	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	HAAO_uc010ynw.1_Missense_Mutation_p.H47Y	NM_012205	NP_036337	P46952	3HAO_HUMAN	Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.	47	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TCTTCGATGTGATAGTCCTTC	0.587000														25			35		0	0	0.004878	0	0
PCDH15	65217	broad.mit.edu	37	10	55582628	55582628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55582628C>T	uc010qhy.1	-	34	5274	c.4879G>A	c.(4879-4881)Ggt>Agt	p.G1627S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1622S|PCDH15_uc021pqz.1_Missense_Mutation_p.G1597S|PCDH15_uc010qhv.1_Missense_Mutation_p.G1617S|PCDH15_uc010qhw.1_Missense_Mutation_p.G1580S|PCDH15_uc010qhx.1_Missense_Mutation_p.G1551S|PCDH15_uc010qhz.1_Missense_Mutation_p.G1622S|PCDH15_uc010qia.1_Missense_Mutation_p.G1600S|PCDH15_uc001jju.1_Missense_Mutation_p.G1620S|PCDH15_uc010qib.1_Missense_Mutation_p.G1597S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1620					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCTGCTACCTCTTTTGTTT	0.413000										HNSCC(58;0.16)				57			62		0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	56044778	56044778	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:56044778G>A	uc003pcs.3	-	2	470	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Nonsense_Mutation_p.Q80*|COL21A1_uc003pcu.1_Nonsense_Mutation_p.Q80*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	80	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACTATATTGAACCACTCCA	0.413000														5			30		0	0	0.002096	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514559	51514559	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:51514559C>T	uc001zyz.4	-	5	866	c.615G>A	c.(613-615)agG>agA	p.R205R	CYP19A1_uc001zza.4_Silent_p.R205R|CYP19A1_uc001zzb.2_Silent_p.R205R|CYP19A1_uc001zzd.3_Silent_p.R205R|CYP19A1_uc010bey.1_Silent_p.R205R	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	205					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCAAAGGGATCCTCAAGAAGA	0.488000														36			35		0	0	0.004289	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563781	20563781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20563781C>T	uc002wrz.3	-	19	2763	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	RALGAPA2_uc002wry.3_Missense_Mutation_p.E489K|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E322K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	874					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTATTCAGTTCTGGGTCTTCC	0.488000														56			8		0	0	0.004482	0	0
RYR3	6263	broad.mit.edu	37	15	34102837	34102837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:34102837C>T	uc001zhi.3	+	70	10254	c.10184C>T	c.(10183-10185)tCg>tTg	p.S3395L	RYR3_uc010bar.3_Missense_Mutation_p.S3390L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3395					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)		CTCGCAAAATCGCGATACAGC	0.542000														29			12		0	0	0.003163	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994321	140994321	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140994321G>A	uc004fbt.3	+	3	1455	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G36G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	377							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATTCCTGGGAGCCCCTCCT	0.483000										HNSCC(15;0.026)				11			133		0	0	0.003610	0	0
ALPPL2	251	broad.mit.edu	37	2	233274533	233274533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233274533C>T	uc002vss.4	+	10	1603	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	517					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCGTTGCTTCCTCTGCTGGCA	0.746000														0			7		0	0	0.003080	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445597	32445597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:32445597C>T	uc002rof.2	+	14	1381	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	SLC30A6_uc002roe.2_Missense_Mutation_p.L401F|SLC30A6_uc010ymw.2_Missense_Mutation_p.L372F|SLC30A6_uc010ezr.2_Missense_Mutation_p.L378F|SLC30A6_uc002rog.2_Missense_Mutation_p.L204F|SLC30A6_uc010ezs.2_Missense_Mutation_p.L327F|SLC30A6_uc002roh.2_Missense_Mutation_p.L204F	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	401						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCAGTTATTCTTCTAAACAC	0.413000														67			25		0	0	0.004656	0	0
ACBD7	414149	broad.mit.edu	37	10	15121003	15121003	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15121003G>A	uc001inv.3	-	1	97	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	ACBD7_uc010qby.1_5'UTR	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	17	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						CTTGCTTTCAGCTTCCTCACA	0.363000														45			25		0	0	0.006320	0	0
AZI1	22994	broad.mit.edu	37	17	79177299	79177299	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79177299G>A	uc002jzp.1	-	5	824	c.624C>T	c.(622-624)tcC>tcT	p.S208S	AZI1_uc002jzn.1_Silent_p.S208S|AZI1_uc002jzo.1_Silent_p.S208S|AZI1_uc010wum.1_Silent_p.S208S	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	208					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTACTTGAGGGAGGGGGCAG	0.662000														8			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9048748	9048748	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9048748G>A	uc002mkp.3	-	4	33087	c.32883C>T	c.(32881-32883)acC>acT	p.T10961T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10963	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						TTGAAGGTGTGGTCTCTGGTT	0.498000														53			23		0	0	0.003954	0	0
DACH2	117154	broad.mit.edu	37	X	86067880	86067880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:86067880C>T	uc004eew.2	+	7	1432	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	DACH2_uc004eex.2_Missense_Mutation_p.P408L|DACH2_uc010nmq.2_Missense_Mutation_p.P287L|DACH2_uc011mra.1_Missense_Mutation_p.P254L|DACH2_uc010nmr.2_Missense_Mutation_p.P202L|DACH2_uc004eey.3_Missense_Mutation_p.P104L|DACH2_uc004eez.3_Missense_Mutation_p.P104L	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTTCAAATTCCAATAATGAAG	0.443000														3			28		0	0	0.002445	0	0
TTLL10	254173	broad.mit.edu	37	1	1117796	1117796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1117796G>A	uc001acy.2	+	9	1037	c.886G>A	c.(886-888)Gag>Aag	p.E296K	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.E296K|TTLL10_uc001acz.2_Missense_Mutation_p.E223K	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	296	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTCAAACACGAGAGAGAGGC	0.622000														21			27		0	0	0.002096	0	0
CCDC88B	283234	broad.mit.edu	37	11	64121212	64121212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64121212G>A	uc001nzy.3	+	22	3908	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	CCDC88B_uc009ypo.2_Missense_Mutation_p.E1284K|CCDC88B_uc001oaa.3_Missense_Mutation_p.E439K|CCDC88B_uc001oab.1_Missense_Mutation_p.E118K|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1287					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGCGCCGCGAGAAGCAGAA	0.642000														111			42		0	0	0.002852	0	0
DSG4	147409	broad.mit.edu	37	18	28968840	28968840	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28968840T>A	uc002kwr.2	+	4	511	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	DSG4_uc002kwq.2_Missense_Mutation_p.Y126N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	126	Cadherin 1.		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)			TCCACAGATCTATTGCCGGGC	0.363000														102			44		0	0	0.003610	0	0
CUL9	23113	broad.mit.edu	37	6	43167691	43167691	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:43167691C>T	uc003ouk.3	+	13	3256	c.3181C>T	c.(3181-3183)Cta>Tta	p.L1061L	CUL9_uc003oul.3_Silent_p.L1061L|CUL9_uc010jyk.3_Silent_p.L213L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1061					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACCTGCTTCCTACATCGCCT	0.502000														15			80		0	0	0.003610	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725570	3725570	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:3725570G>A	uc002wjd.3	+	4	430	c.288G>A	c.(286-288)ccG>ccA	p.P96P	HSPA12B_uc010zqj.2_5'UTR|HSPA12B_uc010zqi.2_Silent_p.P96P|HSPA12B_uc002wje.3_Silent_p.P9P	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	96							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCGGAGACCCGGGCGTGGCCC	0.632000														11			22		0	0	0.001882	0	0
CDH9	1007	broad.mit.edu	37	5	26903766	26903766	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:26903766C>A	uc003jgs.1	-	5	1148	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	CDH9_uc010iug.3_Missense_Mutation_p.G327W	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						GTTATAATCCCTTCCTGTGTA	0.403000														150			27		2.61193e-14	4.14712e-14	0.001786	1	0
CHUK	1147	broad.mit.edu	37	10	101969473	101969473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101969473G>A	uc001kqp.3	-	9	1062	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	336					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGACTGTAGTGAATGAAGACT	0.363000														20			27		0	0	0.005443	0	0
OR2B6	26212	broad.mit.edu	37	6	27925809	27925809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27925809C>T	uc011dkx.2	+	0	791	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	264					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						CAACCACCTTCGCCCAGCTCC	0.453000														50			92		0	0	0.003610	0	0
C10orf90	118611	broad.mit.edu	37	10	128147757	128147757	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:128147757G>A	uc010qum.2	-	6	2070	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	C10orf90_uc001ljp.3_Silent_p.F439F|C10orf90_uc001ljq.3_Silent_p.F583F	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	583										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGCGAGAAATGAACTGAGGCT	0.493000														69			29		0	0	0.001786	0	0
LOC649330	649330	broad.mit.edu	37	1	12907965	12907965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12907965C>T	uc010obf.2	-	1	404	c.178G>A	c.(178-180)Gag>Aag	p.E60K	LOC649330_uc009vno.2_Missense_Mutation_p.E60K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	60							nucleic acid binding|nucleotide binding										GCATTTTTCTCCTTATCATAT	0.478000														76			12		0	0	0.001855	0	0
TRRAP	8295	broad.mit.edu	37	7	98547149	98547149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:98547149C>T	uc003upp.3	+	34	5086	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L	TRRAP_uc011kis.2_Missense_Mutation_p.P1608L|TRRAP_uc003upr.3_Missense_Mutation_p.P1325L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1626					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)			GCTGTGCGCCCCGGTTCGCCC	0.647000														41			18		0	0	0.001216	0	0
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:7079535G>A	uc001mfb.1	+	7	2810	c.2487G>A	c.(2485-2487)gaG>gaA	p.E829E		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	829					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443000														12			35		0	0	0.006230	0	0
DCC	1630	broad.mit.edu	37	18	50961561	50961561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50961561G>A	uc002lfe.2	+	21	3827	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	DCC_uc010dpf.2_Missense_Mutation_p.D706N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1071					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)		TAATTTGATTGATAGAAGCAC	0.328000														165			69		0	0	0.003610	0	0
MYSM1	114803	broad.mit.edu	37	1	59126878	59126878	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:59126878G>A	uc009wab.2	-	18	2315	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	MYSM1_uc001cza.3_Silent_p.I170I|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	764					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCCGGCGAAAGATTTTATCCA	0.368000														21			6		0	0	0.003080	0	0
MYH1	4619	broad.mit.edu	37	17	10411973	10411973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10411973G>A	uc002gmo.3	-	15	1698	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	535	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TTCCAGGATGGAGAAGATGCC	0.393000														69			12		0	0	0.001368	0	0
MCC	4163	broad.mit.edu	37	5	112419847	112419847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:112419847G>A	uc003kql.4	-	9	2002	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	MCC_uc003kqj.4_Missense_Mutation_p.S339L|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.S339L|MCC_uc010jcd.1_Missense_Mutation_p.S301L	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	339					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATGATGACGATTCGGACCT	0.443000														111			24		0	0	0.004656	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950937	45950937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45950937C>T	uc002zfe.1	-	3	688	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	TSPEAR_uc010gpv.1_Missense_Mutation_p.G140S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	208	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity	p.G208V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATGAACAGGCCTTTGGCTCTC	0.577000														32			6		0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718902	140718902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140718902G>A	uc003ljk.2	+	0	549	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E122K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	122	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)			AGTAGAGGTGGAAATAACAGA	0.448000														33			33		0	0	0.002096	0	0
CCDC157	550631	broad.mit.edu	37	22	30766437	30766437	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30766437C>T	uc011aku.2	+	4	1203	c.543C>T	c.(541-543)ccC>ccT	p.P181P	CCDC157_uc011akv.2_Silent_p.P181P	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	181								p.Q181Q(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TAGGCTTGCCCCAGACCTGCC	0.597000														13			130		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9070500	9070500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9070500G>A	uc002mkp.3	-	2	17150	c.16946C>T	c.(16945-16947)tCa>tTa	p.S5649L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5651	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						GCTCTCTGGTGATGTGGAGGA	0.522000														22			7		0	0	0.003080	0	0
EYA1	2138	broad.mit.edu	37	8	72127689	72127689	+	Silent	SNP	C	T	T	rs147434089		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72127689C>T	uc003xyu.3	-	15	2170	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	EYA1_uc003xyt.4_Silent_p.A477A|EYA1_uc003xyr.4_Silent_p.A475A|EYA1_uc010lzf.3_Silent_p.A437A|EYA1_uc003xys.4_Silent_p.A510A|EYA1_uc011lfe.2_Silent_p.A504A|EYA1_uc003xyv.3_Silent_p.A388A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	510					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			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)			GCAGGACTTTCGCCAATGCTG	0.338000														49			46		0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166976255	166976255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:166976255G>A	uc003irh.2	+	12	2199	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	TLL1_uc011cjn.2_Missense_Mutation_p.D541N|TLL1_uc011cjo.2_Missense_Mutation_p.D342N	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	518	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTGCTTATGACTACCTGGA	0.343000														37			33		0	0	0.004878	0	0
AKAP6	9472	broad.mit.edu	37	14	33291517	33291517	+	Missense_Mutation	SNP	C	T	T	rs74976151	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:33291517C>T	uc001wrq.3	+	12	4668	c.4498C>T	c.(4498-4500)Cgt>Tgt	p.R1500C		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1500					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCCTGCTTCGTGGTTTTTA	0.378000														28			12		0	0	0.000978	0	0
AKAP3	10566	broad.mit.edu	37	12	4737380	4737380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4737380G>A	uc001qnb.4	-	3	932	c.688C>T	c.(688-690)Cca>Tca	p.P230S		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	230					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGTCATCTGGACCCTGTCTT	0.448000														59			24		0	0	0.005443	0	0
IGSF1	3547	broad.mit.edu	37	X	130408083	130408083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130408083C>T	uc004ewe.4	-	18	4147	c.3864G>A	c.(3862-3864)tgG>tgA	p.W1288*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W1283*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W1274*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W1263*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1283					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCACTTCTTCCACTCTATGG	0.507000														67			57		0	0	0.003610	0	0
DLX3	1747	broad.mit.edu	37	17	48072125	48072125	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48072125A>T	uc002ipy.3	-	0	464	c.238T>A	c.(238-240)Tac>Aac	p.Y80N		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TTGGGCGAGTAAGCGCCCGTG	0.622000														50			40		0	0	0.006230	0	0
RRS1	23212	broad.mit.edu	37	8	67342116	67342116	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:67342116G>T	uc003xwa.3	+	0	854	c.750G>T	c.(748-750)aaG>aaT	p.K250N	ADHFE1_uc003xwb.4_5'Flank|ADHFE1_uc003xwd.4_5'Flank|ADHFE1_uc003xwc.4_5'Flank|ADHFE1_uc003xwe.4_5'Flank|ADHFE1_uc003xwf.4_5'Flank|ADHFE1_uc011les.2_5'Flank|LOC100505676_uc022avk.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Homo sapiens RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1), mRNA.	250					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTCCGGCAAGAAAAGGAAGT	0.597000														34			11		9.31168e-06	1.46844e-05	0.001855	1	0
GALP	85569	broad.mit.edu	37	19	56696612	56696612	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56696612C>T	uc002qmo.1	+	5	406	c.324C>T	c.(322-324)ccC>ccT	p.P108P	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	108					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGAAAATTCCCAAGGAGGAAG	0.443000														15			20		0	0	0.002780	0	0
WDR36	134430	broad.mit.edu	37	5	110459595	110459595	+	Silent	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:110459595A>T	uc003kpd.3	+	19	2526	c.2409A>T	c.(2407-2409)gcA>gcT	p.A803A	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	803					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GATATGCTGCACCTGAACAAA	0.368000														59			10		0	0	0.000673	0	0
PGD	5226	broad.mit.edu	37	1	10479520	10479520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:10479520C>T	uc001arc.3	+	11	1346	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	PGD_uc010oak.2_Missense_Mutation_p.P397L	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	419					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GCTGGCATTCCCATGCCCTGT	0.582000														40			24		0	0	0.002780	0	0
MYOM3	127294	broad.mit.edu	37	1	24387573	24387573	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:24387573C>T	uc001bin.4	-	35	4135	c.3972_splice	c.e35-1	p.K1324_splice	MYOM3_uc001bil.4_Splice_Site_p.K217_splice|MYOM3_uc001bim.4_Splice_Site_p.K981_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1324										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCAAGGTTCTGAAAAACAG	0.488000														24			11		0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124402907	124402907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124402907C>T	uc001lgk.1	+	52	7341	c.7235C>T	c.(7234-7236)cCt>cTt	p.P2412L	DMBT1_uc001lgl.1_Missense_Mutation_p.P2402L|DMBT1_uc001lgm.1_Missense_Mutation_p.P1784L|DMBT1_uc021qaf.1_Missense_Mutation_p.P2412L|DMBT1_uc021qag.1_Missense_Mutation_p.P2402L|DMBT1_uc021qah.1_Missense_Mutation_p.P1784L|DMBT1_uc009xzz.1_Missense_Mutation_p.P2411L|DMBT1_uc010qtx.1_Missense_Mutation_p.P1132L|DMBT1_uc009yab.1_Missense_Mutation_p.P1115L|DMBT1_uc009yac.1_Missense_Mutation_p.P706L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2412					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAGAGGAGCCTCGGTAGGTG	0.612000														12			3		0	0	0.004672	0	0
TAF1L	138474	broad.mit.edu	37	9	32634978	32634978	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32634978C>T	uc003zrg.1	-	0	690	c.600G>A	c.(598-600)gtG>gtA	p.V200V	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	200					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TACTGAAATCCACTTTCTCTG	0.473000														28			26		0	0	0.006320	0	0
DAGLA	747	broad.mit.edu	37	11	61504750	61504750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61504750C>T	uc001nsa.3	+	13	1584	c.1468C>T	c.(1468-1470)Ccg>Tcg	p.P490S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	490					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCACAGTATCCGACCCTCAA	0.652000														183			69		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179639012	179639012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179639012C>T	uc021vsy.1	-	29	7204	c.6979G>A	c.(6979-6981)Gat>Aat	p.D2327N	TTN_uc021vsz.1_Missense_Mutation_p.D2281N|TTN_uc021vta.1_Missense_Mutation_p.D2281N|TTN_uc021vtb.1_Missense_Mutation_p.D2281N|TTN_uc002unb.2_Missense_Mutation_p.D2327N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2327	Ig-like 12.						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)			TTGGTTACATCCTTGACCGTG	0.408000														42			29		0	0	0.006320	0	0
NUP88	4927	broad.mit.edu	37	17	5312176	5312176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5312176G>A	uc010vsx.2	-	4	823	c.734C>T	c.(733-735)cCa>cTa	p.P245L	NUP88_uc002gbo.2_Missense_Mutation_p.P245L|NUP88_uc010cle.2_Missense_Mutation_p.P244L|NUP88_uc010vsy.2_Missense_Mutation_p.P245L	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	245					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGCTGCCAATGGCCCAAAGTC	0.413000														23			29		0	0	0.002445	0	0
ITIH1	3697	broad.mit.edu	37	3	52816259	52816259	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52816259C>T	uc003dfs.3	+	7	936	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.S160S|ITIH1_uc021wzg.1_Silent_p.S14S|ITIH1_uc021wzh.1_Silent_p.S14S|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	302	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCAGTGGCTCCATGAGAGGCC	0.498000														25			18		0	0	0.006122	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287571	29287571	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:29287571G>A	uc001usj.3	-	2	848	c.306C>T	c.(304-306)ttC>ttT	p.F102F	SLC46A3_uc001usg.3_Silent_p.F27F|SLC46A3_uc001usi.3_Silent_p.F102F|SLC46A3_uc001ush.3_Silent_p.F102F|SLC46A3_uc001usk.3_Silent_p.F27F	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	102					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAATCATAGGGAATTTTCGTC	0.403000														15			8		0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55708105	55708105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55708105C>T	uc002qjq.3	-	9	2115	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	PTPRH_uc010esv.3_Missense_Mutation_p.G503E|PTPRH_uc002qjs.2_Missense_Mutation_p.G688E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	681	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAAGTTGACTCCATAGCCCGC	0.592000														42			6		0	0	0.001984	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003559	52003559	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52003559C>T	uc003dcm.3	-	3	1404	c.516G>A	c.(514-516)ctG>ctA	p.L172L	PCBP4_uc003dcj.2_5'Flank|PCBP4_uc003dck.2_5'Flank|PCBP4_uc003dch.2_5'Flank|PCBP4_uc003dci.2_5'Flank|ABHD14B_uc011bdy.2_Silent_p.L172L|ABHD14B_uc021wza.1_Silent_p.L134L|ABHD14B_uc003dcn.3_Silent_p.L172L|ABHD14B_uc011bdz.1_3'UTR	NM_032750	NP_116139	Q96IU4	ABHEB_HUMAN	Homo sapiens abhydrolase domain containing 14B (ABHD14B), transcript variant 1, mRNA.	172						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GCAGCTGCTTCAGGTGCTCAA	0.592000														84			31		0	0	0.005524	0	0
DNAH7	56171	broad.mit.edu	37	2	196659083	196659083	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196659083G>A	uc002utj.4	-	56	10796	c.10695C>T	c.(10693-10695)ttC>ttT	p.F3565F	DNAH7_uc002uti.4_Silent_p.F48F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3565	AAA 6 (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						AGCTGCCAAAGAACTCCGGAT	0.463000														50			27		0	0	0.006320	0	0
C19orf75	284369	broad.mit.edu	37	19	51768752	51768752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51768752G>A	uc002pwb.1	+	2	534	c.153G>A	c.(151-153)atG>atA	p.M51I	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	51						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TGGATGGCATGGATGGCAGCC	0.572000														33			15		0	0	0.002450	0	0
ERC2	26059	broad.mit.edu	37	3	56330159	56330159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:56330159C>T	uc021wzo.1	-	1	1102	c.962G>A	c.(961-963)aGc>aAc	p.S321N	ERC2_uc003dhr.1_Missense_Mutation_p.S321N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	321						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)		ATCCTCCAGGCTTTTGGATGG	0.453000														182			65		0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139263231	139263231	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139263231A>C	uc003yuy.3	-	5	566	c.395T>G	c.(394-396)aTg>aGg	p.M132R	FAM135B_uc003yux.3_Missense_Mutation_p.M33R|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	132								p.M132I(1)		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)			GCTGCTGACCATCGGTGCCCC	0.572000										HNSCC(54;0.14)				44			53		0	0	0.003610	0	0
ALPK3	57538	broad.mit.edu	37	15	85410592	85410592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85410592C>T	uc002ble.3	+	12	5541	c.5374C>T	c.(5374-5376)Cga>Tga	p.R1792*	ALPK3_uc010upc.2_Nonsense_Mutation_p.R93*	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1792	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.R1792*(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCAAACTCCGAGGGTGAGT	0.542000														47			44		0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421216	37421216	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37421216A>T	uc021ppc.1	+	3	490	c.391A>T	c.(391-393)Att>Ttt	p.I131F	ANKRD30A_uc001iza.1_Missense_Mutation_p.I131F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	187						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGTGAGCAAATTGTGGAATT	0.289000														37			36		0	0	0.003610	0	0
RIMS4	140730	broad.mit.edu	37	20	43386794	43386794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43386794C>T	uc010ggu.3	-	2	338	c.271G>A	c.(271-273)Gac>Aac	p.D91N	RIMS4_uc002xms.3_Missense_Mutation_p.D90N	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	90					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AACTGGGCGTCCGACGCCAGG	0.582000														44			7		0	0	0.001984	0	0
NLRP12	91662	broad.mit.edu	37	19	54313422	54313422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54313422C>T	uc002qcj.4	-	2	1711	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.M497I|NLRP12_uc002qci.4_Missense_Mutation_p.M497I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.M497I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	497	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGAAGATGTTCATGTTGAGGA	0.502000														56			103		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20959876C>T	uc010vbe.2	-	56	11272	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3758					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)		TCCTCAATTTCCTTACAGTAG	0.532000														34			22		0	0	0.002780	0	0
ZNF213	7760	broad.mit.edu	37	16	3190720	3190720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3190720C>T	uc010uws.2	+	5	1199	c.752C>T	c.(751-753)tCc>tTc	p.S251F	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.S251F|ZNF213_uc010uwt.2_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	251	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGTGAGAAGTCCCTGCTGCAG	0.627000														34			37		0	0	0.002222	0	0
OR2G2	81470	broad.mit.edu	37	1	247752288	247752288	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247752288C>T	uc010pyy.2	+	0	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTATCCTTTTCCTTATAGTGC	0.498000														33			44		0	0	0.003610	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724818	38724818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:38724818G>A	uc001wum.1	-	0	757	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	137	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGCGGTGCAGGAGCGTTGGGG	0.687000														19			6		0	0	0.001168	0	0
DYM	54808	broad.mit.edu	37	18	46645263	46645263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:46645263G>A	uc002ldi.1	-	14	1962	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DYM_uc010xdf.1_Nonsense_Mutation_p.R343*|DYM_uc002ldj.3_Nonsense_Mutation_p.R355*	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	533						Golgi apparatus		p.R533*(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AACATCATTCGAATCACTTCT	0.403000														27			8		0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113318320	113318320	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113318320G>A	uc003ynu.3	-	50	8146	c.7987C>T	c.(7987-7989)Cga>Tga	p.R2663*	CSMD3_uc003yns.3_Nonsense_Mutation_p.R1865*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.R2623*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.R2559*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2663	Sushi 15.					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						GATGACAATCGATATCCATCA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			38		0	0	0.007835	0	0
ZNF283	284349	broad.mit.edu	37	19	44351537	44351537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44351537C>T	uc002oxr.4	+	6	1052	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	ZNF283_uc002oxp.4_Missense_Mutation_p.P123S	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGGTGAGAAACCCTATGAGTG	0.383000														35			44		0	0	0.002222	0	0
SERPINB2	5055	broad.mit.edu	37	18	61582839	61582839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61582839C>T	uc010xev.2	+	1	185	c.95C>T	c.(94-96)tCc>tTc	p.S32F	SERPINB2_uc002ljp.1_Missense_Mutation_p.S173F|SERPINB2_uc002ljq.1_Missense_Mutation_p.S146F|SERPINB2_uc010xew.2_Missense_Mutation_p.S32F	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	32					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTCTTTTCTTCCTGGAGCATC	0.458000														64			18		0	0	0.007413	0	0
MYH1	4619	broad.mit.edu	37	17	10416027	10416027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10416027C>T	uc002gmo.3	-	10	1073	c.979G>A	c.(979-981)Gat>Aat	p.D327N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	327	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TCTTGGTCATCAATGCTGGGC	0.418000														111			26		0	0	0.002096	0	0
GSTK1	373156	broad.mit.edu	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142960620C>T	uc003wci.3	+	0	99	c.14C>T	c.(13-15)cCg>cTg	p.P5L	GSTK1_uc011ksy.2_Missense_Mutation_p.P5L|GSTK1_uc003wcj.3_Missense_Mutation_p.P5L|GSTK1_uc011ksz.2_Missense_Mutation_p.P5L	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	p.P5Q(3)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677000														98			31		0	0	0.004289	0	0
POLR1B	84172	broad.mit.edu	37	2	113310248	113310248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113310248C>T	uc002thw.2	+	6	1593	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	POLR1B_uc010fkn.2_Missense_Mutation_p.S282F|POLR1B_uc002thx.2_Missense_Mutation_p.S199F|POLR1B_uc010fko.2_Missense_Mutation_p.S338F|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.S199F|POLR1B_uc010yxo.1_Missense_Mutation_p.S115F	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	338					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CACTTGAAATCCAATACTGAA	0.353000														60			10		0	0	0.006214	0	0
CPXM1	56265	broad.mit.edu	37	20	2778807	2778807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:2778807G>A	uc002wgu.3	-	3	655	c.581C>T	c.(580-582)tCt>tTt	p.S194F	CPXM1_uc010gas.3_Missense_Mutation_p.S194F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	194	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCCAGACAGAGTTCCTGCC	0.622000														12			15		0	0	0.006122	0	0
WWC2	80014	broad.mit.edu	37	4	184166646	184166646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:184166646C>T	uc010irx.3	+	5	862	c.680C>T	c.(679-681)tCt>tTt	p.S227F	WWC2_uc003ivk.4_Missense_Mutation_p.S22F|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	227								p.S227F(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAACTAAAATCTATCAGAAAG	0.368000														14			16		0	0	0.004007	0	0
CDH4	1002	broad.mit.edu	37	20	60504813	60504813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60504813G>A	uc002ybn.2	+	12	2240	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	CDH4_uc002ybr.2_Missense_Mutation_p.D681N|CDH4_uc002ybp.2_Missense_Mutation_p.D644N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	718	Cadherin 5.				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)			TGACAACGGGGACTGCACCAC	0.582000														56			67		0	0	0.003610	0	0
DLG4	1742	broad.mit.edu	37	17	7107049	7107049	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7107049G>A	uc010vtn.2	-	3	377	c.117C>T	c.(115-117)atC>atT	p.I39I	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.I96I|DLG4_uc002get.4_Silent_p.I142I|DLG4_uc010vto.2_Silent_p.I139I|DLG4_uc002geu.3_Silent_p.I96I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	99					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CACCAGGAATGATCTTGGTGA	0.617000														51			16		0	0	0.007413	0	0
SCAMP4	113178	broad.mit.edu	37	19	1917763	1917763	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1917763C>T	uc002luj.3	+	2	185	c.78C>T	c.(76-78)tcC>tcT	p.S26S	SCAMP4_uc002lui.1_Silent_p.S26S|SCAMP4_uc002luk.3_Silent_p.S26S|SCAMP4_uc010dss.3_5'UTR	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	Homo sapiens secretory carrier membrane protein 4 (SCAMP4), mRNA.	26					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACTTCTCCGACGAGATCC	0.597000														26			12		0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	90106148	90106148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:90106148G>A	uc003kju.3	+	73	15167	c.15071G>A	c.(15070-15072)aGa>aAa	p.R5024K	GPR98_uc003kjt.3_Missense_Mutation_p.R2730K|GPR98_uc003kjw.3_Missense_Mutation_p.R685K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5024					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGATGATCAGATTACATGTA	0.403000														9			23		0	0	0.002780	0	0
BATF3	55509	broad.mit.edu	37	1	212870361	212870361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:212870361C>T	uc001hjl.2	-	1	360	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_018664	NP_061134	Q9NR55	BATF3_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA.	46					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.N45K(1)|p.R46R(1)		endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		AGCAGCAACTCGGTTTTTTTC	0.557000														19			41		0	0	0.002522	0	0
CLU	1191	broad.mit.edu	37	8	27461907	27461907	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:27461907C>G	uc003xfy.2	-	5	1015	c.868G>C	c.(868-870)Gac>Cac	p.D290H	CLU_uc003xfw.2_Missense_Mutation_p.D279H|CLU_uc003xfx.2_Missense_Mutation_p.D279H|CLU_uc003xfz.2_Missense_Mutation_p.D279H	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	279					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGGTCATCGTCGCCTTCTGGG	0.512000														18			27		0	0	0.006320	0	0
CES4A	283848	broad.mit.edu	37	16	67029684	67029684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67029684C>T	uc002eqv.3	+	1	396	c.281C>T	c.(280-282)cCc>cTc	p.P94L	CES4A_uc010vix.2_Missense_Mutation_p.P71L|CES4A_uc002eqw.3_Missense_Mutation_p.P31L	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	71						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCTCCAGAACCCCCGGAGCCC	0.567000														33			46		0	0	0.003610	0	0
PRB4	5545	broad.mit.edu	37	12	11461537	11461537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11461537C>T	uc001qzf.1	-	2	414	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRB4_uc001qzt.3_Missense_Mutation_p.G127E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	190	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.602000										HNSCC(22;0.051)				138			6		0	0	0.004482	0	0
MAGI1	9223	broad.mit.edu	37	3	65439006	65439006	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:65439006C>T	uc003dmn.3	-	5	1495	c.969G>A	c.(967-969)acG>acA	p.T323T	MAGI1_uc003dmm.3_Silent_p.T323T|MAGI1_uc003dmo.3_Silent_p.T323T|MAGI1_uc003dmp.3_Silent_p.T323T|MAGI1_uc010hny.2_Silent_p.T208T|MAGI1_uc021xac.1_Silent_p.T324T|MAGI1_uc003dmr.3_Silent_p.T324T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	323	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATGTTGTTTTCGTGTTATGGC	0.403000														67			29		0	0	0.002096	0	0
LILRA1	11024	broad.mit.edu	37	19	55107259	55107259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55107259C>T	uc002qgh.1	+	5	999	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	LILRA1_uc010yfg.1_Missense_Mutation_p.P271S|LILRA1_uc010yfh.2_Missense_Mutation_p.P273S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	273	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGCCCACAGCCCCAGGCTGG	0.602000														68			29		0	0	0.007291	0	0
SOCS5	9655	broad.mit.edu	37	2	46987053	46987053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46987053C>T	uc021vgx.1	+	0	1384	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	SOCS5_uc002rvf.3_Missense_Mutation_p.P462S|SOCS5_uc002rvg.3_Missense_Mutation_p.P462S	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	462	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATAAAGATCCCAGTTCGTG	0.433000														30			49		0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29994970	29994971	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29994970_29994971CC>AT	uc010bzm.2	+	11	1463_1464	c.1428_1429CC>AT	c.(1426-1431)atccga>atATga	p.R477*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Nonsense_Mutation_p.R470*|TAOK2_uc021tgf.1_Nonsense_Mutation_p.R470*|TAOK2_uc002dva.2_Nonsense_Mutation_p.R470*|TAOK2_uc002dvc.2_Nonsense_Mutation_p.R470*|TAOK2_uc002dvd.2_Nonsense_Mutation_p.R297*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.R470R(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TTGCCACCATCCGAACCGCCTC	0.589000														156			58		0	0	0.004672	0	0
C14orf166B	145497	broad.mit.edu	37	14	77318763	77318763	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:77318763G>A	uc001xsx.2	+	7	897	c.783G>A	c.(781-783)agG>agA	p.R261R	C14orf166B_uc010asn.1_Silent_p.R21R|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	261										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCCACACAAGGGGAGCTGTGG	0.582000														1			10		0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	144992838	144992838	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144992838G>A	uc003zaf.1	-	31	11732	c.11562C>T	c.(11560-11562)gcC>gcT	p.A3854A	PLEC_uc003zab.1_Silent_p.A3717A|PLEC_uc003zac.1_Silent_p.A3721A|PLEC_uc003zad.2_Silent_p.A3717A|PLEC_uc003zae.1_Silent_p.A3685A|PLEC_uc003zag.1_Silent_p.A3695A|PLEC_uc003zah.2_Silent_p.A3703A|PLEC_uc003zaj.2_Silent_p.A3744A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3854	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGCCACCTCGGCACTCAGCA	0.652000														30			50		0	0	0.003610	0	0
HDAC9	9734	broad.mit.edu	37	7	18688206	18688206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18688206C>T	uc003sui.3	+	9	1408	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	HDAC9_uc003sue.3_Missense_Mutation_p.P453L|HDAC9_uc011jyd.2_Missense_Mutation_p.P453L|HDAC9_uc003suh.3_Missense_Mutation_p.P453L|HDAC9_uc003suj.3_Missense_Mutation_p.P412L|HDAC9_uc011jya.2_Missense_Mutation_p.P451L|HDAC9_uc003sua.1_Missense_Mutation_p.P431L|HDAC9_uc003sud.2_Missense_Mutation_p.P453L|HDAC9_uc011jyc.2_Missense_Mutation_p.P412L|HDAC9_uc011jyb.2_Missense_Mutation_p.P409L|HDAC9_uc003suf.2_Missense_Mutation_p.P484L|HDAC9_uc010kud.2_Missense_Mutation_p.P456L|HDAC9_uc011jye.2_Missense_Mutation_p.P425L|HDAC9_uc011jyf.2_Missense_Mutation_p.P376L|HDAC9_uc010kue.1_Missense_Mutation_p.P196L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	453					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGTCTGCACCTTTGCCTCAG	0.507000														70			27		0	0	0.004656	0	0
MEGF8	1954	broad.mit.edu	37	19	42837848	42837848	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42837848C>T	uc002otl.4	+	1	914	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	93	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGGTGACTCCCCGCGAGGGC	0.617000														26			52		0	0	0.003610	0	0
ATAD2	29028	broad.mit.edu	37	8	124340747	124340747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124340747G>A	uc003yqh.4	-	24	3659	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	ATAD2_uc011lii.2_Missense_Mutation_p.S975L|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGCCTGTGAAATCTTCCT	0.373000														58			33		0	0	0.002836	0	0
ALS2	57679	broad.mit.edu	37	2	202619390	202619390	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202619390G>A	uc002uyo.3	-	5	1832	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	ALS2_uc002uyp.4_Silent_p.S492S|ALS2_uc002uyq.3_Silent_p.S492S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	492					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGCCTGGGGGAAACTGAAA	0.488000														24			21		0	0	0.002780	0	0
C17orf67	339210	broad.mit.edu	37	17	54892321	54892321	+	Missense_Mutation	SNP	G	A	A	rs143175206	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:54892321G>A	uc010dci.3	-	1	265	c.137C>T	c.(136-138)cCg>cTg	p.P46L	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	46						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGTCAAAATCGGGGAGGTCTC	0.522000														246			64		0	0	0.003610	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828895	125828895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:125828895C>T	uc003eim.1	-	19	2429	c.2239G>A	c.(2239-2241)Ggg>Agg	p.G747R	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.G646R|ALDH1L1_uc003ein.1_Missense_Mutation_p.G282R	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	747	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G747R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTGCGGCCCGTGGTCGGTG	0.607000														24			32		0	0	0.002445	0	0
LAMB1	3912	broad.mit.edu	37	7	107576057	107576058	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107576057_107576058CC>TT	uc003vev.2	-	24	4223_4224	c.4062_4063GG>AA	c.(4060-4065)gaggca>gaAAca	p.A1355T	LAMB1_uc003vew.2_Missense_Mutation_p.A1331T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1331	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTCTGCCTCAAGAGACA	0.505000														20			189		0	0	0.004672	0	0
ITIH1	3697	broad.mit.edu	37	3	52821000	52821000	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52821000C>T	uc003dfs.3	+	13	1803	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.S449S|ITIH1_uc021wzg.1_Silent_p.S303S|ITIH1_uc021wzh.1_Silent_p.S303S|ITIH1_uc003dft.3_Silent_p.S192S	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	591	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGTCATCCCAGGCCCTGC	0.612000														25			7		0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64692073	64692073	+	Silent	SNP	C	T	T	rs144405351		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:64692073C>T	uc001xgl.3	+	115	20783	c.20553C>T	c.(20551-20553)ctC>ctT	p.L6851L	SYNE2_uc001xgm.3_Silent_p.L6829L|SYNE2_uc010apy.3_Silent_p.L3214L|SYNE2_uc001xgn.3_Silent_p.L1790L|SYNE2_uc021rui.1_Missense_Mutation_p.L1795F|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.L799L|SYNE2_uc001xgq.3_Silent_p.L1208L|SYNE2_uc001xgr.3_Silent_p.L612L|SYNE2_uc010tsi.2_Silent_p.L486L|SYNE2_uc001xgs.3_Silent_p.L500L|SYNE2_uc001xgt.3_Silent_p.L373L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6829	KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCCTTCCTCTCAAGGGTGG	0.637000														5			13		0	0	0.001368	0	0
NPRL3	8131	broad.mit.edu	37	16	167369	167370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:167369_167370GG>AA	uc002cfr.3	-	4	447_448	c.323_324CC>TT	c.(322-324)tcc>tTT	p.S108F	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.S30F|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	108							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GATCTGTTTTGGAGATCTGTAA	0.386000														9			4		0	0	0.004672	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827787	7827787	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7827787G>A	uc002gjm.1	-	8	657	c.657C>T	c.(655-657)aaC>aaT	p.N219N	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	219						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCAGGCCCTGGTTGATGACAT	0.557000														37			11		0	0	0.001368	0	0
EPHB3	2049	broad.mit.edu	37	3	184295720	184295720	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184295720C>T	uc003foz.3	+	7	2111	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	558						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCAGCTTCCCCTCATCGTGG	0.642000														40			19		0	0	0.001216	0	0
CSMD3	114788	broad.mit.edu	37	8	113267556	113267556	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113267556G>A	uc003ynu.3	-	61	10122	c.9963C>T	c.(9961-9963)ttC>ttT	p.F3321F	CSMD3_uc003yns.3_Silent_p.F2523F|CSMD3_uc003ynt.3_Silent_p.F3281F|CSMD3_uc011lhx.2_Silent_p.F3152F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3321	Sushi 26.					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						CCACTAATATGAAAGGAAAAT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				29			21		0	0	0.001882	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777393	18777393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:18777393G>A	uc003zne.4	+	18	3318	c.3166G>A	c.(3166-3168)Gag>Aag	p.E1056K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1056						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCTCGGAGGAGGACCCGGG	0.692000														3			3		0	0	0.000248	0	0
ITPKC	80271	broad.mit.edu	37	19	41245435	41245435	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41245435C>T	uc002oot.3	+	6	2055	c.2022C>T	c.(2020-2022)atC>atT	p.I674I		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	674						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAACATGATCTGCCTCCTGC	0.642000														9			7		0	0	0.003080	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129217	68129217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:68129217G>A	uc002jiq.3	+	2	1225	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	KCNJ16_uc002jin.3_Missense_Mutation_p.G330E|KCNJ16_uc002jio.3_Missense_Mutation_p.G330E|KCNJ16_uc002jip.3_Missense_Mutation_p.G330E|KCNJ16_uc021uch.1_Missense_Mutation_p.G330E	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	330					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CAGTTTGAAGGAAGTGTGGAA	0.453000														56			13		0	0	0.003163	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400018	13400018	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13400018G>A	uc002gob.1	-	1	1515	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	239						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCACCACCACGATGAGCTTGG	0.637000														96			14		0	0	0.001523	0	0
INVS	27130	broad.mit.edu	37	9	103014671	103014671	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:103014671C>T	uc004bap.1	+	8	1397	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	INVS_uc010mta.2_Silent_p.F299F|INVS_uc011lve.1_Silent_p.F299F|INVS_uc004bao.1_Silent_p.F395F|INVS_uc004baq.1_Silent_p.F299F|INVS_uc004bar.1_Silent_p.F299F|INVS_uc010mtb.1_Silent_p.F69F	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	395					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTCCACTTTTCCGAGCCTGTG	0.413000														23			23		0	0	0.001882	0	0
KRT83	3889	broad.mit.edu	37	12	52709692	52709692	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52709692T>C	uc001saf.2	-	6	1310	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	416	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCTCGCCCTCCAGCAGGCG	0.577000														39			71		0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673881	120673881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:120673881G>A	uc003eec.4	+	2	424	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R95Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	95					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGCTATACGAATGTATCCT	0.358000														37			14		0	0	0.001855	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61324626G>A	uc002lji.3	-	5	634	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_uc002ljg.3_Missense_Mutation_p.P164S|SERPINB3_uc010dqa.3_Missense_Mutation_p.P164S	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000														79			24		0	0	0.006320	0	0
KAT2A	2648	broad.mit.edu	37	17	40266928	40266928	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40266928G>A	uc002hyx.2	-	12	2061	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	667					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTTCTTGATGATGTGGGACA	0.552000														90			56		0	0	0.003610	0	0
GALK1	2584	broad.mit.edu	37	17	73758813	73758813	+	Silent	SNP	G	A	A	rs146095595		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:73758813G>A	uc002jpk.3	-	4	828	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	255					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCTCCCGGAGGCTTTCCT	0.637000														34			26		0	0	0.001512	0	0
CILP	8483	broad.mit.edu	37	15	65489927	65489927	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65489927G>A	uc002aon.2	-	8	2878	c.2697C>T	c.(2695-2697)ctC>ctT	p.L899L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	899					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACATGCCCGGAGGTTCTCAA	0.532000														44			29		0	0	0.007291	0	0
LILRA1	11024	broad.mit.edu	37	19	55086467	55086467	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55086467C>T	uc010ern.3	+	4	1091	c.622C>T	c.(622-624)Cta>Tta	p.L208L	LILRA1_uc002qgg.4_Silent_p.L208L|LILRA1_uc002qgf.3_Silent_p.L208L|LILRA1_uc010yfe.1_Silent_p.L208L|LILRA1_uc010yff.1_Silent_p.L196L|LILRA1_uc010ero.3_Silent_p.L196L|LILRA1_uc010yfg.1_Silent_p.L208L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	210	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTGTGGTCTCTACCCAGTGA	0.582000														60			92		0	0	0.003610	0	0
NOBOX	135935	broad.mit.edu	37	7	144098156	144098156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:144098156C>T	uc022aoj.1	-	3	827	c.827G>A	c.(826-828)cGa>cAa	p.R276Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	276					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R276Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATAGGGTTCGTGTCTTTTT	0.542000														5			43		0	0	0.003610	0	0
ARSA	410	broad.mit.edu	37	22	51065039	51065039	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51065039G>A	uc003bna.4	-	3	838	c.576C>T	c.(574-576)gtC>gtT	p.V192V	ARSA_uc021wsd.1_Silent_p.V278V|ARSA_uc021wse.1_Silent_p.V278V|ARSA_uc021wsf.1_Silent_p.V278V|ARSA_uc003bmz.4_Silent_p.V276V|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	276						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.P191A(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAGTGAAGATGACCAGCGTCT	0.642000														18			42		0	0	0.006999	0	0
TRPC3	7222	broad.mit.edu	37	4	122854187	122854187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122854187C>T	uc003ieg.2	-	1	300	c.226G>A	c.(226-228)Gga>Aga	p.G76R	TRPC3_uc010inr.2_Missense_Mutation_p.G3R|TRPC3_uc003ief.2_Missense_Mutation_p.G3R|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	0					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						GATGGGCTTCCCTCCATGGAC	0.547000														17			13		0	0	0.001855	0	0
IGSF1	3547	broad.mit.edu	37	X	130415851	130415851	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130415851G>A	uc004ewe.4	-	7	1597	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	IGSF1_uc004ewd.3_Silent_p.T438T|IGSF1_uc022cdv.1_Silent_p.T429T|IGSF1_uc004ewf.2_Silent_p.T418T	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	438	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCACTGAAGGGTGATGGCCT	0.468000														1			34		0	0	0.003755	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540305	96540305	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96540305G>A	uc010qnz.2	+	3	531	c.531G>A	c.(529-531)gtG>gtA	p.V177V	CYP2C19_uc009xus.1_Silent_p.V42V|CYP2C19_uc010qny.2_Silent_p.V155V	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTGCAATGTGATCTGCTCCA	0.353000														63			74		0	0	0.003610	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437582	190437582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:190437582C>T	uc002uqp.4	-	3	728	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC40A1_uc002uqq.2_Missense_Mutation_p.G126E	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	126					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGAACCCATCCATGGTACAT	0.388000														25			23		0	0	0.004656	0	0
RHBG	57127	broad.mit.edu	37	1	156347844	156347844	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156347844G>A	uc010pho.2	+	2	476	c.438G>A	c.(436-438)aaG>aaA	p.K146K	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.K77K|RHBG_uc009wrz.3_Silent_p.K77K|RHBG_uc001for.3_Silent_p.K116K	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	146					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCTGGGCAAGACCGGGCCTA	0.602000														62			28		0	0	0.001512	0	0
AADACL4	343066	broad.mit.edu	37	1	12704665	12704665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12704665C>T	uc001auf.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	34						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CACGGATATCCCTGCTACCTT	0.522000														66			38		0	0	0.006999	0	0
KRT6A	3853	broad.mit.edu	37	12	52886819	52886819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52886819C>T	uc001sam.3	-	0	363	c.154G>A	c.(154-156)Gga>Aga	p.G52R		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	52	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTCCTCCACATGCACCA	0.662000														74			15		0	0	0.002299	0	0
DST	667	broad.mit.edu	37	6	56458588	56458588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:56458588C>T	uc003pcy.4	-	28	4838	c.4730G>A	c.(4729-4731)aGa>aAa	p.R1577K	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3989					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCAACACTCTGTTTCCAGA	0.433000														317			54		0	0	0.003610	0	0
KRT40	125115	broad.mit.edu	37	17	39137388	39137388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39137388G>A	uc010cxh.1	-	5	864	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	235	Coil 1B.|Rod.		R -> H (in dbSNP:rs2010027).			intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGCTGTTCACGAAGCAAGTTG	0.498000														87			64		0	0	0.003610	0	0
PTPRB	5787	broad.mit.edu	37	12	70960288	70960288	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70960288C>T	uc001swb.4	-	12	3207	c.3177G>A	c.(3175-3177)aaG>aaA	p.K1059K	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Silent_p.K969K|PTPRB_uc001swc.4_Silent_p.K1277K|PTPRB_uc001swa.4_Silent_p.K1189K|PTPRB_uc001swd.4_Silent_p.K1276K|PTPRB_uc009zrr.2_Silent_p.K1156K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1059	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTTGTATTTCTTGCCTGGTG	0.433000														161			16		0	0	0.004990	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475461	157475461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:157475461C>T	uc003wno.3	-	12	2078	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	PTPRN2_uc003wnp.3_Missense_Mutation_p.G636R|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624R|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615R|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	653						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCCCCTAGTCCCGAGAGCTTC	0.572000														195			26		0	0	0.007291	0	0
SCN5A	6331	broad.mit.edu	37	3	38620979	38620979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38620979G>A	uc021wvo.1	-	16	3288	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	SCN5A_uc021wvk.1_Missense_Mutation_p.S1078F|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.S1079F|SCN5A_uc021wvn.1_Missense_Mutation_p.S1078F|SCN5A_uc021wvp.1_Missense_Mutation_p.S1079F|SCN5A_uc021wvq.1_Missense_Mutation_p.S1078F|SCN5A_uc021wvr.1_Missense_Mutation_p.S1079F|SCN5A_uc021wvs.1_Missense_Mutation_p.S1079F|SCN5A_uc021wvt.1_Missense_Mutation_p.S1078F|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.S1079F|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.S945F|SCN5A_uc021wvw.1_Missense_Mutation_p.S689F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1079					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)	CACAGGCTGGGATTCCTGCTG	0.647000														17			12		0	0	0.003163	0	0
CTSE	1510	broad.mit.edu	37	1	206325396	206325396	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:206325396G>A	uc001hdu.3	+	4	739	c.621G>A	c.(619-621)caG>caA	p.Q207Q	CTSE_uc001hdv.3_Silent_p.Q207Q|CTSE_uc010prs.2_Silent_p.Q132Q	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	212					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGATGGCTCAGAACCTGGTGG	0.483000														18			37		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9089642	9089642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9089642G>A	uc002mkp.3	-	0	2377	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	725	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						GACAACAGAGGAATGCTGGTG	0.498000														63			22		0	0	0.001882	0	0
TMC7	79905	broad.mit.edu	37	16	19056754	19056754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19056754C>T	uc002dfp.2	+	10	1677	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	TMC7_uc002dfq.3_Missense_Mutation_p.P516L|TMC7_uc010vap.2_Missense_Mutation_p.P406L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	516						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGGATTTTCCTAGAAAGTAA	0.498000														45			17		0	0	0.006122	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103820	2103820	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:2103820G>A	uc001aiq.3	+	12	1439	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	PRKCZ_uc001air.3_Silent_p.E243E|PRKCZ_uc010nyw.2_Silent_p.E322E|PRKCZ_uc001ais.3_Silent_p.E243E|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Silent_p.E274E	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	426	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCGGGGAGAGGAGTACGGTG	0.642000														4			4		0	0	0.000248	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966606	58966606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58966606C>T	uc002qsv.1	+	3	402	c.295C>T	c.(295-297)Cca>Tca	p.P99S	ZNF324B_uc002qsu.1_Missense_Mutation_p.P89S|ZNF324B_uc010euq.1_Missense_Mutation_p.P99S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACGAGCTTTCCCAGATACCCC	0.552000														77			77		0	0	0.003610	0	0
TCTA	6988	broad.mit.edu	37	3	49449976	49449976	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49449976C>T	uc003cwv.4	+	0	338	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RHOA_uc010hku.3_5'Flank|RHOA_uc003cwu.3_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	Homo sapiens T-cell leukemia translocation altered gene (TCTA), mRNA.	39						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGACCCTCTTCAAGCTGCTGC	0.647000														68			57		0	0	0.003610	0	0
UQCC	55245	broad.mit.edu	37	20	33891791	33891791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:33891791G>A	uc002xcd.3	-	9	1026	c.847C>T	c.(847-849)Cct>Tct	p.P283S	UQCC_uc010zuy.2_Missense_Mutation_p.P184S|UQCC_uc021wcl.1_Missense_Mutation_p.P210S|UQCC_uc010zva.2_Missense_Mutation_p.P146S|UQCC_uc010gfb.3_Missense_Mutation_p.P257S|UQCC_uc010zvb.2_Missense_Mutation_p.P215S|UQCC_uc002xcg.3_Missense_Mutation_p.P149S|UQCC_uc002xcf.3_Missense_Mutation_p.P171S|UQCC_uc010zuz.2_Missense_Mutation_p.P128S|UQCC_uc002xcc.3_Missense_Mutation_p.P96S|UQCC_uc002xch.3_Non-coding_Transcript	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATGCTCTGAGGATTCTTCTCC	0.612000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			35		0	0	0.006999	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524122	73524122	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73524122C>T	uc004ebs.4	+	0	98	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	7							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGATTTCTTCGCGTGTGGAC	0.627000														4			5		0	0	0.000602	0	0
TTC26	79989	broad.mit.edu	37	7	138819479	138819480	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:138819479_138819480CC>TT	uc003vus.2	+	1	196_197	c.82_83CC>TT	c.(82-84)cca>TTa	p.P28L	TTC26_uc003vuq.2_Missense_Mutation_p.P28L|TTC26_uc011kqm.1_Missense_Mutation_p.P28L|TTC26_uc003vur.4_Missense_Mutation_p.P28L|TTC26_uc011kqn.1_Missense_Mutation_p.P28L|TTC26_uc011kqo.1_Missense_Mutation_p.P28L|TTC26_uc011kqp.1_Intron|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.P28L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	28							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TAGGAAGATTCCAAAACTAGAG	0.426000														47			16		0	0	0.004672	0	0
EYA1	2138	broad.mit.edu	37	8	72234092	72234092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72234092G>A	uc003xyu.3	-	5	935	c.295C>T	c.(295-297)Cct>Tct	p.P99S	EYA1_uc003xyt.4_Missense_Mutation_p.P66S|EYA1_uc003xyr.4_Missense_Mutation_p.P99S|EYA1_uc010lzf.3_Missense_Mutation_p.P26S|EYA1_uc003xys.4_Missense_Mutation_p.P99S|EYA1_uc011lfe.2_Missense_Mutation_p.P98S|EYA1_uc003xyv.3_Intron	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	99					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			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)			GAAGGGGTAGGGAGAATATGT	0.453000														41			15		0	0	0.006122	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602821	37602821	+	Missense_Mutation	SNP	C	T	T	rs146572771	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:37602821C>T	uc002yvg.3	+	13	1818	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	DOPEY2_uc011aeb.2_Missense_Mutation_p.S580L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	580					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAGATGCTTCGTTTCCCCCT	0.473000														63			17		0	0	0.004990	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555120	44555120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:44555120G>A	uc010xdb.2	-	0	1330	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	365	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCCAGAACGGGTTCAAGAAC	0.607000														616			14		0	0	0.003330	0	0
ABCC4	10257	broad.mit.edu	37	13	95735479	95735479	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:95735479G>A	uc001vmd.4	-	20	2720	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	ABCC4_uc010afk.3_Silent_p.P820P	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	867	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGGGAACCAAGGGTATTGCGA	0.438000														18			8		0	0	0.003080	0	0
WSCD2	9671	broad.mit.edu	37	12	108634193	108634193	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:108634193A>T	uc001tms.3	+	7	1961	c.1217A>T	c.(1216-1218)aAa>aTa	p.K406I	WSCD2_uc001tmt.3_Missense_Mutation_p.K406I|WSCD2_uc001tmu.3_Missense_Mutation_p.K154I	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	406						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCGGCCAGAAAGAGATCGAG	0.602000														25			86		0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508720	71508720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71508720G>A	uc011caw.1	+	8	1858	c.1577G>A	c.(1576-1578)aGg>aAg	p.R526K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	526					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGGTCAAGAAGGATGCCATAT	0.418000														30			34		0	0	0.002445	0	0
GHRH	2691	broad.mit.edu	37	20	35882724	35882724	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:35882724T>C	uc002xgr.3	-	2	216	c.197A>G	c.(196-198)aAc>aGc	p.N66S	GHRH_uc021wdc.1_Missense_Mutation_p.N66S|GHRH_uc002xgt.3_Missense_Mutation_p.N66S|GHRH_uc002xgs.3_Missense_Mutation_p.N66S	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	66					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding	p.N66K(1)		lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCGCTCTTGGTTGCTCTCTCT	0.498000														209			29		0	0	0.002096	0	0
PPYR1	5540	broad.mit.edu	37	10	47087258	47087258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:47087258G>A	uc001jee.3	+	2	894	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.G159R|PPYR1_uc021ppu.1_Missense_Mutation_p.G159R	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	159					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCCTACCTGGGGATTGTGCT	0.582000														146			21		0	0	0.001523	0	0
RIMS2	9699	broad.mit.edu	37	8	105026827	105026827	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105026827G>A	uc003yls.3	+	16	2779	c.2538G>A	c.(2536-2538)aaG>aaA	p.K846K	RIMS2_uc003ylp.3_Silent_p.K1106K|RIMS2_uc003ylw.2_Silent_p.K920K|RIMS2_uc003ylq.3_Silent_p.K920K|RIMS2_uc003ylr.3_Silent_p.K945K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1168	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCCACCAAAGGGAACGTTGG	0.438000										HNSCC(12;0.0054)				26			30		0	0	0.003755	0	0
PNISR	25957	broad.mit.edu	37	6	99856122	99856123	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:99856122_99856123GG>AA	uc003ppo.4	-	6	926_927	c.698_699CC>TT	c.(697-699)ccc>cTT	p.P233L	PNISR_uc003ppp.4_Missense_Mutation_p.P233L|PNISR_uc011eag.2_Missense_Mutation_p.P233L|PNISR_uc003ppr.2_Missense_Mutation_p.P233L	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	233						nuclear speck		p.P233P(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAATCCAAGCGGGAAGAGTCCT	0.361000														8			32		0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:118997498C>T	uc004bjn.3	+	6	2695	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_uc011lxp.1_Missense_Mutation_p.P467S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	772					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACACGGTTCCTCCAGCCTG	0.562000														29			26		0	0	0.003330	0	0
LAMB2	3913	broad.mit.edu	37	3	49168257	49168257	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49168257C>A	uc003cwe.3	-	7	1251	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C	LAMB2_uc003cwf.1_Missense_Mutation_p.G318C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	318	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGAGGCCACGTGTGTTG	0.582000														95			37		2.6416e-12	4.18893e-12	0.006230	1	0
VWF	7450	broad.mit.edu	37	12	6174349	6174349	+	Missense_Mutation	SNP	C	T	T	rs137950753		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6174349C>T	uc001qnn.1	-	10	1497	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	VWF_uc010set.1_Missense_Mutation_p.R416Q	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	416	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCAATCCCGGGCCAGCAG	0.562000														9			12		0	0	0.001855	0	0
KRT78	196374	broad.mit.edu	37	12	53233610	53233610	+	Silent	SNP	C	T	T	rs149571950	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53233610C>T	uc001sbc.1	-	6	1270	c.1206G>A	c.(1204-1206)acG>acA	p.T402T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	402	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGAAAGCTTCGTGCTCGTCA	0.617000														54			12		0	0	0.001368	0	0
TAL2	6887	broad.mit.edu	37	9	108425076	108425076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:108425076C>T	uc004bct.3	+	0	339	c.299C>T	c.(298-300)tCa>tTa	p.S100L		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CAGGTTCCTTCACCTGGTCCA	0.572000			T	TRB@	T-ALL									7			11		0	0	0.000978	0	0
CNGA3	1261	broad.mit.edu	37	2	99012539	99012539	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:99012539G>A	uc010fij.3	+	7	1059	c.918G>A	c.(916-918)agG>agA	p.R306R	CNGA3_uc002syt.3_Silent_p.R302R|CNGA3_uc002syu.3_Silent_p.R284R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	302					signal transduction|visual perception	integral to membrane	cGMP binding	p.L306F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATATGTTCAGGATTGGGAACT	0.468000														33			50		0	0	0.003610	0	0
CARD14	79092	broad.mit.edu	37	17	78162266	78162266	+	Missense_Mutation	SNP	G	A	A	rs144570537		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78162266G>A	uc002jxw.1	+	4	960	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.D256N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.D19N|CARD14_uc010dhu.1_Missense_Mutation_p.D54N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	256					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGCCAGCGACCAGGAGTC	0.592000														37			19		0	0	0.001882	0	0
PARP9	83666	broad.mit.edu	37	3	122269585	122269585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:122269585G>A	uc010hri.3	-	5	1422	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	PARP9_uc003eff.4_Missense_Mutation_p.S391F|PARP9_uc011bjs.2_Missense_Mutation_p.S391F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S391F|PARP9_uc003efh.3_Missense_Mutation_p.S426F|PARP9_uc003efj.2_Missense_Mutation_p.S391F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	426	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCAGGAAAGGAAATGGAAGT	0.348000														28			13		0	0	0.003163	0	0
LRP10	26020	broad.mit.edu	37	14	23345251	23345251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23345251C>T	uc001whd.3	+	4	1647	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	LRP10_uc001whe.3_Missense_Mutation_p.A241V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	365	LDL-receptor class A 3.			A -> T (in Ref. 8).	endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCCTGTGGGGCTGCTGGCACC	0.617000														14			5		0	0	0.000602	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711447	40711447	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40711447C>T	uc011aor.2	+	19	5050	c.4839C>T	c.(4837-4839)ccC>ccT	p.P1613P	TNRC6B_uc003aym.3_Silent_p.P809P|TNRC6B_uc003ayn.4_Silent_p.P1503P|TNRC6B_uc003ayo.3_Silent_p.P1360P	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1613					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CATCATCTCCCTGGAGCAGCA	0.572000														29			71		0	0	0.003610	0	0
ABHD8	79575	broad.mit.edu	37	19	17411956	17411956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17411956G>A	uc002ngb.4	-	1	710	c.470C>T	c.(469-471)aCc>aTc	p.T157I		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	157							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AATATGGATGGTCCTCTTGGG	0.687000														29			39		0	0	0.006230	0	0
TMEM37	140738	broad.mit.edu	37	2	120194767	120194767	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:120194767C>T	uc002tly.3	+	1	358	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	108						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGGAGTTCCTCATGGTGT	0.652000														55			23		0	0	0.002299	0	0
LGALS14	56891	broad.mit.edu	37	19	40197293	40197293	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40197293G>A	uc002omf.3	+	2	600	c.159G>A	c.(157-159)ggG>ggA	p.G53G	LGALS14_uc002omg.3_Silent_p.G24G	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	24	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TAATCACAGGGACACCGATCC	0.493000														137			55		0	0	0.003610	0	0
PLOD1	5351	broad.mit.edu	37	1	12012792	12012793	+	Splice_Site	DNP	GG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12012792_12012793GG>AT	uc010obb.2	+	6	833	c.720_splice	c.e6+1	p.R240_splice	PLOD1_uc001atm.3_Splice_Site_p.R193_splice	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	193					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGGAGAAGAGGGTAAGAGGCAG	0.629000														19			20		0	0	0.004672	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170800	61170800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61170800G>A	uc002liz.4	+	6	1115	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K		NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	325					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGTGTGCTTAGAAATAACTGA	0.443000														32			14		0	0	0.001855	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248737528C>T	uc001iep.1	-	0	531	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGATTTTCCTAGACTGGC	0.527000														32			52		0	0	0.003610	0	0
IL25	64806	broad.mit.edu	37	14	23842583	23842583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23842583G>A	uc001wjr.3	+	0	514	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	IL25_uc001wjq.3_Missense_Mutation_p.A70T	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	86					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAACAGCAGGGCCATCTCCCC	0.632000														33			8		0	0	0.000673	0	0
PLCB2	5330	broad.mit.edu	37	15	40589767	40589767	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40589767C>T	uc001zld.3	-	12	1579	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	PLCB2_uc010bbo.3_Silent_p.T426T|PLCB2_uc010ucm.2_Silent_p.T426T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	426	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T426T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCCCAAAGATCGTCCGGCAAT	0.597000														29			19		0	0	0.002780	0	0
CTNNA1	1495	broad.mit.edu	37	5	138253548	138253548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:138253548G>A	uc003ldh.3	+	10	1602	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	CTNNA1_uc011cyx.2_Missense_Mutation_p.D400N|CTNNA1_uc011cyy.2_Missense_Mutation_p.D380N|CTNNA1_uc003ldi.3_Missense_Mutation_p.D201N|CTNNA1_uc003ldj.3_Missense_Mutation_p.D503N|CTNNA1_uc003ldl.3_Missense_Mutation_p.D133N	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	503					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGATGCTGTCGATGACATTAC	0.408000														265			77		0	0	0.003610	0	0
NINL	22981	broad.mit.edu	37	20	25442247	25442247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:25442247C>T	uc002wux.1	-	20	3681	c.3607G>A	c.(3607-3609)Gtt>Att	p.V1203I	NINL_uc010gdn.1_Missense_Mutation_p.V854I|NINL_uc002wuw.1_5'Flank	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1203					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCAAGTTCAACTCTAAGTTTT	0.438000														32			36		0	0	0.006230	0	0
LRP5	4041	broad.mit.edu	37	11	68154023	68154023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:68154023G>A	uc001ont.3	+	5	1330	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	419	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACGACCCCGATGGCATCGC	0.652000														42			17		0	0	0.007413	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376447	98376447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98376447C>T	uc001kmq.3	-	12	2091	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N	PIK3AP1_uc001kmo.3_Missense_Mutation_p.D254N|PIK3AP1_uc001kmp.3_Missense_Mutation_p.D477N|5S_rRNA_uc021pwo.1_5'Flank	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	655						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGATGCTGTCTCTTAGCCGT	0.413000														90			24		0	0	0.006320	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929240	45929240	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45929240G>A	uc002zfe.1	-	9	1662	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	TSPEAR_uc010gpv.1_Silent_p.F464F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	532					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCGATCTGGAAGACCTCCC	0.582000														23			7		0	0	0.004482	0	0
IGSF22	283284	broad.mit.edu	37	11	18735851	18735851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18735851C>T	uc009yht.2	-	12	1961	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	591								p.E591K(3)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACTTTCCGTGCCCTTG	0.562000														3			27		0	0	0.005443	0	0
ANKRD26	22852	broad.mit.edu	37	10	27306649	27306649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:27306649G>A	uc009xku.1	-	29	4460	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	ANKRD26_uc001itg.2_Missense_Mutation_p.L1116F|ANKRD26_uc001ith.2_Missense_Mutation_p.L1429F	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1429						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCTCTTGAAGAATTTGGTTC	0.333000														23			12		0	0	0.001368	0	0
PATL1	219988	broad.mit.edu	37	11	59425053	59425053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59425053G>A	uc001noe.4	-	4	714	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	PATL1_uc009yms.1_Missense_Mutation_p.P191S|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	191	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGCCTATGGGGACAGCTCTA	0.537000														58			23		0	0	0.003954	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004536	18004536	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18004536C>T	uc002nhr.4	+	14	2129	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	594					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGAAGAACTCCCCACTGGAA	0.582000														17			12		0	0	0.001855	0	0
C10orf113	387638	broad.mit.edu	37	10	21435389	21435389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:21435389C>T	uc001iqm.3	-	0	100	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.E17K	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	17										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TCAGAAATTTCAGGTGCCATG	0.383000														28			15		0	0	0.004990	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:24601303G>A	uc011djo.2	-	1	529	c.29C>T	c.(28-30)tCa>tTa	p.S10L	KIAA0319_uc011djp.2_Intron|KIAA0319_uc003neh.1_Missense_Mutation_p.S10L|KIAA0319_uc011djq.1_5'UTR|KIAA0319_uc011djr.1_Missense_Mutation_p.S10L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	10					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						CAGCAGCAATGAAGAGAGCAC	0.532000														103			114		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230469	140230469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140230469G>A	uc003lhu.2	+	0	3113	c.2389G>A	c.(2389-2391)Ggg>Agg	p.G797R	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_uc003lht.1_Missense_Mutation_p.G797R	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	834					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)			AGATTCAACTGGGAAGGTGGG	0.423000														26			48		0	0	0.003610	0	0
C1orf51	148523	broad.mit.edu	37	1	150259285	150259285	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150259285C>T	uc001euj.3	+	4	1526	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	C1orf51_uc001euh.3_Silent_p.A359A|C1orf51_uc001eui.3_Silent_p.A271A	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	359										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCTTGGCCAGAAAGATGA	0.537000														84			20		0	0	0.001523	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30936114G>A	uc002nsu.1	+	1	1783	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ZNF536_uc010edd.1_Missense_Mutation_p.E549K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000														70			21		0	0	0.002780	0	0
PKP2	5318	broad.mit.edu	37	12	33031940	33031940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33031940G>A	uc001rlj.4	-	1	365	c.250C>T	c.(250-252)Cct>Tct	p.P84S	PKP2_uc001rlk.4_Missense_Mutation_p.P84S|PKP2_uc010skj.2_Missense_Mutation_p.P84S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	84					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACATACTCAGGAACACTGCTG	0.368000														55			19		0	0	0.002299	0	0
ZNF697	90874	broad.mit.edu	37	1	120168512	120168512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:120168512G>A	uc001ehy.1	-	1	326	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCAGATGTCGGGCACTGCTTC	0.502000														17			9		0	0	0.006214	0	0
GXYLT1	283464	broad.mit.edu	37	12	42523607	42523607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:42523607G>A	uc001rms.4	-	1	493	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	GXYLT1_uc001rmt.4_Intron	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	90					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ACATCAGAGGGCAGCATCCAA	0.388000														29			22		0	0	0.003330	0	0
RYR1	6261	broad.mit.edu	37	19	39077171	39077171	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39077171C>T	uc002oit.3	+	104	15106	c.14976C>T	c.(14974-14976)ttC>ttT	p.F4992F	RYR1_uc002oiu.3_Silent_p.F4987F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4992					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCAGGTTTTTCCTGATGTATT	0.448000														48			16		0	0	0.001216	0	0
TPP1	1200	broad.mit.edu	37	11	6635861	6635861	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:6635861G>A	uc001mel.1	-	12	1669	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Silent_p.F293F	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	536					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GACCAGAGCAGAAACCCTGGC	0.562000														25			16		0	0	0.004990	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911193	202911193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:202911193C>T	uc001gyq.4	-	6	1226	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	ADIPOR1_uc010pqd.2_Missense_Mutation_p.R244Q|ADIPOR1_uc001gyr.4_Missense_Mutation_p.R119Q|ADIPOR1_uc001gys.4_Missense_Mutation_p.R320Q	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	320					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CTCAGGAATTCGAGCAGCATA	0.498000														102			26		0	0	0.005443	0	0
EXOC4	60412	broad.mit.edu	37	7	133041131	133041132	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:133041131_133041132CC>TT	uc003vrk.3	+	5	846_847	c.811_812CC>TT	c.(811-813)cca>TTa	p.P271L	EXOC4_uc011kpo.2_Missense_Mutation_p.P170L|EXOC4_uc003vri.3_Missense_Mutation_p.P271L|EXOC4_uc003vrj.3_Missense_Mutation_p.P271L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	271					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAATTGGATCCAGAGGAAAAC	0.401000														74			12		0	0	0.004672	0	0
OR5W2	390148	broad.mit.edu	37	11	55681306	55681306	+	Silent	SNP	G	A	A	rs142170371		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55681306G>A	uc010rir.2	-	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGTTCCCTGGAAAATTGCAA	0.423000														40			33		0	0	0.006999	0	0
TCRA	0	broad.mit.edu	37	14	22554731	22554731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22554731G>A	uc001wcz.1	+	0	63	c.3G>A	c.(1-3)atG>atA	p.M1I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'Flank					SubName: Full=HADV23S1; Flags: Fragment;																		CAGGAGGAATGGACAAGATCT	0.443000														17			22		0	0	0.002780	0	0
PGAP1	80055	broad.mit.edu	37	2	197777618	197777618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197777618G>A	uc002utw.3	-	3	751	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	PGAP1_uc002utx.3_Missense_Mutation_p.R39C|PGAP1_uc002uty.1_Missense_Mutation_p.R213C|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Missense_Mutation_p.R39C	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	213					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			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTAATGAAACGATCTAATGGC	0.368000														19			11		0	0	0.001368	0	0
GFM1	85476	broad.mit.edu	37	3	158363443	158363443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:158363443C>T	uc003fce.3	+	1	214	c.107C>T	c.(106-108)tCt>tTt	p.S36F	GFM1_uc003fcd.3_Missense_Mutation_p.S36F|GFM1_uc003fcg.3_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	36					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCCGATGGTCTTCATCAGGG	0.373000														37			16		0	0	0.006122	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279477	42279477	+	Missense_Mutation	SNP	C	T	T	rs146301749	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42279477C>T	uc021sjp.1	-	16	1928	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	PLA2G4E_uc010udc.2_Missense_Mutation_p.R86Q|PLA2G4E_uc001zov.2_Missense_Mutation_p.R267Q	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	631	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AAGGATTTCTCGGAAAGAATT	0.527000														20			18		0	0	0.006122	0	0
ACO1	48	broad.mit.edu	37	9	32419040	32419040	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32419040C>T	uc003zqw.4	+	6	818	c.663C>T	c.(661-663)gtC>gtT	p.V221V	ACO1_uc010mjh.1_Silent_p.V55V|ACO1_uc003zqx.4_Silent_p.V221V|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	221					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTGCAGGTGTCGGTGGTATTG	0.488000														19			14		0	0	0.001855	0	0
MXRA5	25878	broad.mit.edu	37	X	3235716	3235716	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3235716G>A	uc004crg.4	-	5	6163	c.6006C>T	c.(6004-6006)atC>atT	p.I2002I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2002	Ig-like C2-type 4.					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)				CGTGCAGGGTGATGCGGCCCT	0.612000														19			10		0	0	0.001368	0	0
ZNF343	79175	broad.mit.edu	37	20	2473352	2473352	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:2473352G>A	uc002wge.1	-	4	785	c.297C>T	c.(295-297)ctC>ctT	p.L99L	ZNF343_uc010gao.1_Silent_p.L99L|ZNF343_uc002wgd.1_Silent_p.L9L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TACCCAATGAGAGAAGATTCC	0.378000														14			22		0	0	0.001882	0	0
ANKRD17	26057	broad.mit.edu	37	4	73987397	73987397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:73987397G>A	uc003hgp.3	-	18	3689	c.3572C>T	c.(3571-3573)gCt>gTt	p.A1191V	ANKRD17_uc003hgo.3_Missense_Mutation_p.A1078V|ANKRD17_uc003hgq.3_Missense_Mutation_p.A940V|ANKRD17_uc003hgr.3_Missense_Mutation_p.A1190V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A756V	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1191					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCACCAGAAGCAGCCAGACT	0.393000														39			12		0	0	0.001368	0	0
C10orf12	26148	broad.mit.edu	37	10	98742843	98742843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98742843C>T	uc001kmv.3	+	0	1803	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	566										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGACAGTTTCCACACGGAAAC	0.498000														26			34		0	0	0.002836	0	0
FAM73B	84895	broad.mit.edu	37	9	131830564	131830564	+	Missense_Mutation	SNP	C	T	T	rs34832472		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131830564C>T	uc004bxa.3	+	12	1543	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.L453F|FAM73B_uc004bxb.3_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	453						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCCTCGGTGCTCGCCGTCCT	0.612000														41			14		0	0	0.001855	0	0
HOXA4	3201	broad.mit.edu	37	7	27168851	27168851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:27168851G>A	uc003sym.4	-	1	1003	c.956C>T	c.(955-957)tCc>tTc	p.S319F	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGATTATAtggaggagggaac	0.577000														44			23		0	0	0.002299	0	0
FNDC1	84624	broad.mit.edu	37	6	159636168	159636168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:159636168G>A	uc010kjv.3	+	4	852	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FNDC1_uc010kjw.1_Missense_Mutation_p.E166K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	218	Fibronectin type-III 2.					extracellular region		p.E218K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGACACACGAAATTAAAAA	0.433000														34			10		0	0	0.000978	0	0
CHTOP	26097	broad.mit.edu	37	1	153614878	153614878	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153614878C>T	uc001fcn.2	+	3	758	c.379C>T	c.(379-381)Cta>Tta	p.L127L	CHTOP_uc001fcm.2_Silent_p.L126L|CHTOP_uc021ozz.1_Intron|CHTOP_uc001fco.2_Silent_p.L101L|CHTOP_uc001fcp.3_5'Flank|CHTOP_uc009woj.2_Silent_p.L126L	NM_001206612	NP_001193541	Q9Y3Y2	CHTOP_HUMAN	Homo sapiens chromatin target of PRMT1 (CHTOP), transcript variant 2, mRNA.	126	Arg/Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	RNA binding|protein binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CACCAGAACCCTACTTAGGGG	0.602000														82			26		0	0	0.005443	0	0
EP400	57634	broad.mit.edu	37	12	132474600	132474601	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:132474600_132474601CC>AT	uc001ujn.3	+	7	2653_2654	c.2501_2502CC>AT	c.(2500-2502)gcc>gAT	p.A834D	EP400_uc021rgq.1_Missense_Mutation_p.A833D|EP400_uc001ujm.3_Missense_Mutation_p.A834D|EP400_uc001ujj.2_Missense_Mutation_p.A797D|EP400_uc001ujk.3_Missense_Mutation_p.A870D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	870	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGCGGATAGCCGCCTCCACGG	0.559000														47			26		0	0	0.004672	0	0
COL23A1	91522	broad.mit.edu	37	5	177675236	177675236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:177675236C>T	uc021yiz.1	-	19	1527	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	COL23A1_uc021yiy.1_Missense_Mutation_p.G166E|COL23A1_uc010jkt.2_Missense_Mutation_p.G272E	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	390	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCCTTCTCCCCCTTGAGGCC	0.642000														19			55		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196866570	196866570	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196866570T>C	uc002utj.4	-	10	1103	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	334	Stem (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						TATTCTGCACTTCTGGAAACC	0.343000														13			6		0	0	0.004482	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519381	28519381	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:28519381C>T	uc001uru.3	+	0		c.39C>T								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						CCGACGCGCTCCGCTTTCGCT	0.493000														4			4		0	0	0.000248	0	0
MYH7	4625	broad.mit.edu	37	14	23900656	23900656	+	Missense_Mutation	SNP	C	T	T	rs121913633		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23900656C>T	uc001wjx.3	-	8	873	c.767G>A	c.(766-768)gGa>gAa	p.G256E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	256	Myosin head-like.		G -> E (in CMH1).		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)		TGCCAACTTTCCTGTTGCCCC	0.502000														86			75		0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125316188	125316188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125316188C>T	uc011lyx.2	+	0	740	c.740C>T	c.(739-741)tCt>tTt	p.S247F		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTCATCTCATCTCCTGGAGGG	0.502000														79			38		0	0	0.002852	0	0
NUP214	8021	broad.mit.edu	37	9	134073810	134073810	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134073810C>T	uc004cag.3	+	28	5040	c.4929C>T	c.(4927-4929)tcC>tcT	p.S1643S	NUP214_uc004cah.3_Silent_p.S1633S|NUP214_uc004cai.3_Silent_p.S1073S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.S469S|NUP214_uc011mcf.1_Silent_p.S420S|NUP214_uc010mzh.1_Silent_p.S157S|NUP214_uc010mzi.1_Silent_p.S157S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1643	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGGCTCATCCGTCTTTGCTC	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									84			25		0	0	0.005443	0	0
HEATR8	374977	broad.mit.edu	37	1	55167895	55167895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55167895G>A	uc010ooe.1	+	19	3742	c.3418G>A	c.(3418-3420)Gag>Aag	p.E1140K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.E658K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.E342K	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1140						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACCATGCAGGAGGGCAACTC	0.617000														8			5		0	0	0.000602	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580830	140580830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140580830G>A	uc003liy.3	+	0	1483	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCCCCAGGACCTGCACCT	0.637000														115			75		0	0	0.003610	0	0
OPA3	80207	broad.mit.edu	37	19	46032324	46032324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46032324G>A	uc002pcj.4	-	1	633	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CTATTTCTCGGACGCCGGCGC	0.662000														39			19		0	0	0.001216	0	0
COL6A6	131873	broad.mit.edu	37	3	130345328	130345328	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:130345328G>A	uc010htl.3	+	24	4910	c.4879_splice	c.e24-1	p.G1627_splice	COL6A6_uc003eni.4_Splice_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1627	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						CTGTTTAACAGGGAGAACCTG	0.438000														29			28		0	0	0.002445	0	0
C18orf25	147339	broad.mit.edu	37	18	43820095	43820095	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:43820095G>A	uc002lbw.3	+	2	1219	c.840G>A	c.(838-840)caG>caA	p.Q280Q	C18orf25_uc002lbx.3_Intron	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	280										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TAGGCGGCCAGGACACAGGAG	0.512000														50			17		0	0	0.007413	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053182	69053182	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69053182G>A	uc010fdg.3	+	10	2216	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	ARHGAP25_uc010yql.2_Silent_p.K559K|ARHGAP25_uc002sew.3_Silent_p.K591K|ARHGAP25_uc002sex.3_Silent_p.K592K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	598					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AACTGGAGAAGGAAAAGAAGA	0.473000														71			22		0	0	0.001882	0	0
WDR47	22911	broad.mit.edu	37	1	109554153	109554153	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109554153A>G	uc001dwl.3	-	4	912	c.536T>C	c.(535-537)gTt>gCt	p.V179A	WDR47_uc001dwi.3_Missense_Mutation_p.V172A|WDR47_uc001dwj.3_Missense_Mutation_p.V172A|WDR47_uc001dwk.2_Missense_Mutation_p.V144A|WDR47_uc010ovf.2_Missense_Mutation_p.V99A	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	172								p.D179Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAATTCTGCAACCATGACACA	0.438000														265			148		0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234621899G>A	uc002vuw.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E88K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	87					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCCAGGACGAATTTGATCG	0.428000														34			22		0	0	0.003330	0	0
AP1M2	10053	broad.mit.edu	37	19	10687881	10687881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10687881G>A	uc002mpd.3	-	8	1130	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	AP1M2_uc002mpc.3_Missense_Mutation_p.S347F	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	347	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TACCGGGAAAGACTTAATACT	0.587000														9			4		0	0	0.000248	0	0
PLCB4	5332	broad.mit.edu	37	20	9404516	9404516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9404516G>A	uc021wam.1	+	23	2420	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	PLCB4_uc010gbw.1_Missense_Mutation_p.R802Q|PLCB4_uc010gbx.3_Missense_Mutation_p.R814Q|PLCB4_uc021wal.1_Missense_Mutation_p.R802Q|PLCB4_uc002wnh.3_Missense_Mutation_p.R649Q	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	802					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						ATTTCCCTTCGAAATGAGGGA	0.408000														7			8		0	0	0.003080	0	0
RNF39	80352	broad.mit.edu	37	6	30043030	30043031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30043030_30043031GG>AA	uc003npe.3	-	0	598_599	c.536_537CC>TT	c.(535-537)ccc>cTT	p.P179L	RNF39_uc003npd.3_Missense_Mutation_p.P179L	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	179						cytoplasm	zinc ion binding										AGCCCATGGTGGGGATGCGCCC	0.713000														20			10		0	0	0.004672	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044490	75044490	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75044490G>A	uc002ayr.1	+	4	1132	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	356					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGGAGCGGCGGCCCCGGCTCT	0.592000														73			73		0	0	0.003610	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980215	6980215	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:6980215G>A	uc002gek.3	-	3	579	c.276C>T	c.(274-276)tcC>tcT	p.S92S	CLEC10A_uc002gej.3_Silent_p.S92S|CLEC10A_uc010clv.2_Silent_p.S92S	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	92					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACTCACCCTGGGAAGTCAGTG	0.562000														53			39		0	0	0.001951	0	0
NEK5	341676	broad.mit.edu	37	13	52667313	52667313	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52667313T>C	uc001vge.3	-	12	1225	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	362							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AAGTTGAGCATAATAATAATC	0.378000														32			22		0	0	0.003330	0	0
DSP	1832	broad.mit.edu	37	6	7568118	7568118	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7568118G>A	uc003mxp.1	+	9	1524	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	DSP_uc003mxq.1_Silent_p.L415L|DSP_uc021yle.1_Silent_p.L415L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	415	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		AGCACCTGCTGGAACAGATCA	0.542000														49			7		0	0	0.003080	0	0
EPHA4	2043	broad.mit.edu	37	2	222428683	222428683	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:222428683G>A	uc002vmq.3	-	2	633	c.591C>T	c.(589-591)gtC>gtT	p.V197V	EPHA4_uc002vmr.2_Silent_p.V197V|EPHA4_uc010zlm.1_Silent_p.V138V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	197	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)		AGAACACACGGACTGATACCA	0.527000														51			22		0	0	0.003330	0	0
MIR518B	574474	broad.mit.edu	37	19	54206011	54206011	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54206011G>A	uc021uzz.1	+	0		c.21G>A								Homo sapiens microRNA 518b (MIR518B), microRNA.																		GCCCTCCAGAGGGAAGCGCTT	0.418000														48			16		0	0	0.004990	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751116	139751116	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139751116C>T	uc003lfm.2	+	18	2684	c.2649C>T	c.(2647-2649)acC>acT	p.T883T	SLC4A9_uc003lfj.2_Silent_p.T859T|SLC4A9_uc011czg.1_Silent_p.T796T|SLC4A9_uc003lfl.2_Silent_p.T859T|SLC4A9_uc003lfk.2_Silent_p.T845T	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	883	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCTGACCAGGGTCCACC	0.532000														157			30		0	0	0.003271	0	0
DZIP3	9666	broad.mit.edu	37	3	108409671	108409671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108409671C>T	uc003dxd.3	+	31	3976	c.3554C>T	c.(3553-3555)cCa>cTa	p.P1185L	DZIP3_uc003dxf.1_Missense_Mutation_p.P1185L|DZIP3_uc011bhm.2_Missense_Mutation_p.P636L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1185					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGGACATGTCCAACGTGCAGA	0.502000														69			26		0	0	0.002445	0	0
BAG6	7917	broad.mit.edu	37	6	31617092	31617093	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31617092_31617093CC>AA	uc003nvg.4	-	3	620_621	c.306_307GG>TT	c.(304-309)acgggg>acTTgg	p.G103W	BAG6_uc003nvf.4_Missense_Mutation_p.G103W|BAG6_uc003nvi.4_Missense_Mutation_p.G103W|BAG6_uc003nvh.4_Missense_Mutation_p.G103W|BAG6_uc011dnw.2_Missense_Mutation_p.G103W|BAG6_uc011dnx.2_Missense_Mutation_p.G103W	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	103					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GAGGCAGACCCCGTCCCAGAAG	0.589000														681			11		0	0	0.004672	0	0
FDXR	2232	broad.mit.edu	37	17	72862330	72862330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72862330G>A	uc010wrl.2	-	4	646	c.559C>T	c.(559-561)Cct>Tct	p.P187S	FDXR_uc010wri.2_Missense_Mutation_p.P92S|FDXR_uc010wrj.2_Missense_Mutation_p.P142S|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.P144S|FDXR_uc002jly.3_Missense_Mutation_p.P144S|FDXR_uc010wrk.2_Missense_Mutation_p.P175S|FDXR_uc010wrm.2_Missense_Mutation_p.P104S|FDXR_uc002jlz.3_Missense_Mutation_p.P136S|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTCACCAGGAATTTCCAGG	0.647000														37			28		0	0	0.002096	0	0
PREX1	57580	broad.mit.edu	37	20	47268117	47268117	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47268117G>A	uc002xtw.1	-	21	2495	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	PREX1_uc002xtv.1_Silent_p.F121F	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	824					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACAGCAGTgggaaggctggaa	0.612000														28			33		0	0	0.002096	0	0
KHDC1	80759	broad.mit.edu	37	6	73952130	73952130	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:73952130G>A	uc003pgo.3	-	3	832	c.331_splice	c.e3+1	p.G111_splice	KHDC1_uc011dyl.1_Splice_Site|KHDC1_uc003pgn.4_Splice_Site_p.G38_splice	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	111	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GCCACTCACCGAAGATGAGCT	0.522000														20			16		0	0	0.006122	0	0
ATR	545	broad.mit.edu	37	3	142217497	142217497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142217497G>A	uc003eux.4	-	31	5622	c.5500C>T	c.(5500-5502)Ctt>Ttt	p.L1834F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1834	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCAGCTGAAAGAGGTACAATT	0.368000								Other conserved DNA damage response genes						21			9		0	0	0.004482	0	0
LOC644936	644936	broad.mit.edu	37	5	79595782	79595782	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79595782G>A	uc010jai.3	-	0	516	c.375C>T	c.(373-375)tcC>tcT	p.S125S						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		ACTTCATGATGGAGTTGAAGG	0.512000														21			29		0	0	0.006320	0	0
ABCA4	24	broad.mit.edu	37	1	94544976	94544976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94544976G>A	uc001dqh.3	-	8	1245	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ABCA4_uc010otn.1_Missense_Mutation_p.P381S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	381					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.N380K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGGTTAAAGGATTTGACTCC	0.448000														28			23		0	0	0.002299	0	0
OR13G1	441933	broad.mit.edu	37	1	247835746	247835746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247835746C>T	uc001idi.1	-	0	598	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGGTAATATCAGCAACATAC	0.458000														72			19		0	0	0.001882	0	0
ATF7IP	55729	broad.mit.edu	37	12	14631255	14631255	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:14631255C>T	uc001rbw.3	+	11	3104	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	ATF7IP_uc001rbv.1_Silent_p.P981P|ATF7IP_uc001rbx.3_Silent_p.P981P|ATF7IP_uc001rby.4_Silent_p.P982P|ATF7IP_uc001rca.3_Silent_p.P982P	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	982					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAACAGACCCCAAAAAACTAA	0.393000														50			7		0	0	0.001984	0	0
ASH1L	55870	broad.mit.edu	37	1	155449894	155449894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:155449894C>T	uc009wqq.3	-	2	3247	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	ASH1L_uc001fkt.3_Missense_Mutation_p.E923K|ASH1L_uc009wqr.1_Missense_Mutation_p.E923K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	923					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTCAGATTCTAGCTTGCTT	0.473000														103			31		0	0	0.002445	0	0
ZNF675	171392	broad.mit.edu	37	19	23836932	23836932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:23836932G>A	uc002nri.3	-	3	985	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	268					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S268S(1)|p.Q267L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTAAA	0.353000														52			10		0	0	0.000978	0	0
TIMD4	91937	broad.mit.edu	37	5	156347490	156347490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156347490G>A	uc003lwh.2	-	7	1094	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	TIMD4_uc010jii.2_Missense_Mutation_p.S318L|TIMD4_uc003lwg.2_Missense_Mutation_p.S48L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	346						integral to membrane		p.S346L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGTTTCTGCGAACAATAGGT	0.423000														476			80		0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153029980	153029980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:153029980G>A	uc011dcy.2	+	3	608	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA1_uc003lva.4_Missense_Mutation_p.G184E|GRIA1_uc003luy.4_Missense_Mutation_p.G184E|GRIA1_uc003luz.4_Missense_Mutation_p.G89E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G104E|GRIA1_uc011dcx.2_Missense_Mutation_p.G115E|GRIA1_uc011dcz.2_Missense_Mutation_p.G194E|GRIA1_uc010jia.1_Missense_Mutation_p.G164E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	184					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E193E(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAGAGGAGGGATACCGGATG	0.512000														85			20		0	0	0.002299	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275540	73275540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73275540C>T	uc003tzk.2	+	0	52	c.16C>T	c.(16-18)Cca>Tca	p.P6S	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	6						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGCCCTTCCTCCAGTCAGATC	0.617000														34			56		0	0	0.003610	0	0
ZNF844	284391	broad.mit.edu	37	19	12186404	12186404	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12186404C>T	uc002mtb.2	+	3	612	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ZNF844_uc010dym.1_5'UTR	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CCCCTCCTTTCAAATGCAAGA	0.408000														15			9		0	0	0.004482	0	0
OR51B4	79339	broad.mit.edu	37	11	5322912	5322912	+	Missense_Mutation	SNP	C	T	T	rs150447535	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:5322912C>T	uc010qza.2	-	0	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCAATCTCCCTCTGGTCT	0.502000														7			37		0	0	0.006230	0	0
VWF	7450	broad.mit.edu	37	12	6101035	6101035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6101035G>A	uc001qnn.1	-	37	6998	c.6748C>T	c.(6748-6750)Cct>Tct	p.P2250S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2250	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTCTTCAGGGACACAGCTG	0.592000														12			23		0	0	0.003330	0	0
GSDMA	284110	broad.mit.edu	37	17	38122606	38122606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38122606G>A	uc002htl.1	+	2	426	c.308G>A	c.(307-309)gGa>gAa	p.G103E	GSDMA_uc002htm.1_Missense_Mutation_p.G103E	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	103					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AAGGTGAAGGGAACGGCAGGG	0.577000														62			53		0	0	0.003610	0	0
HBEGF	1839	broad.mit.edu	37	5	139722387	139722387	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139722387G>A	uc003lfi.3	-	2	506	c.231C>T	c.(229-231)tcC>tcT	p.S77S	HBEGF_uc010jfj.3_Intron	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	Homo sapiens heparin-binding EGF-like growth factor (HBEGF), mRNA.	77					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTTGGAGGATAAAGTGA	0.458000														213			163		0	0	0.003610	0	0
DPPA2	151871	broad.mit.edu	37	3	109023324	109023324	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:109023324C>T	uc003dxo.3	-	6	1099	c.852G>A	c.(850-852)aaG>aaA	p.K284K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	284						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGTTACCTCTTAGCACAGT	0.418000														32			8		0	0	0.006214	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819632	50819632	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50819632C>T	uc001jhw.3	+	0	1286	c.846C>T	c.(844-846)atC>atT	p.I282I	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	282					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCACTCCCATCCACCGCCTCA	0.652000														48			20		0	0	0.002299	0	0
DDC	1644	broad.mit.edu	37	7	50605624	50605624	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50605624C>T	uc003tpg.4	-	3	570	c.369G>A	c.(367-369)ggG>ggA	p.G123G	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.G123G|DDC_uc022adb.1_Silent_p.G85G|DDC_uc022adc.1_Silent_p.G123G|DDC_uc022add.1_Silent_p.G123G|DDC_uc022adf.1_Silent_p.G123G|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	123	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G123W(1)|p.L122R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCAGCATCTTCCCGAGCCAGT	0.562000														71			32		0	0	0.003271	0	0
SLC12A1	6557	broad.mit.edu	37	15	48518707	48518707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48518707G>A	uc001zwn.4	+	4	879	c.663G>A	c.(661-663)atG>atA	p.M221I	SLC12A1_uc010uew.1_Missense_Mutation_p.M27I|SLC12A1_uc010bem.3_Intron|SLC12A1_uc010uex.2_Missense_Mutation_p.M221I|SLC12A1_uc001zwq.4_5'UTR|SLC12A1_uc001zwr.4_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	221					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTCCACCATGGTAACTTCTA	0.388000														34			15		0	0	0.006122	0	0
CRNN	49860	broad.mit.edu	37	1	152382958	152382958	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152382958C>T	uc001ezx.2	-	2	674	c.600G>A	c.(598-600)agG>agA	p.R200R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	200	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGATTCCTCTTGCCTT	0.542000														180			141		0	0	0.003610	0	0
ALPK3	57538	broad.mit.edu	37	15	85407727	85407727	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85407727C>T	uc002ble.3	+	11	5327	c.5160C>T	c.(5158-5160)acC>acT	p.T1720T	ALPK3_uc010upc.2_Silent_p.T21T	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1720	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CATATGCTACCCTGGAGGAAG	0.542000														94			24		0	0	0.003954	0	0
RPS18	6222	broad.mit.edu	37	6	33244213	33244213	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33244213C>T	uc003odp.1	+	5	474	c.429C>T	c.(427-429)ggC>ggT	p.G143G	RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	143					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						GCCGCCGTGGCCGCACCGTGG	0.488000														26			18		0	0	0.002780	0	0
CMIP	80790	broad.mit.edu	37	16	81725423	81725423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:81725423C>T	uc002fgp.3	+	10	1504	c.1432C>T	c.(1432-1434)Caa>Taa	p.Q478*	CMIP_uc002fgq.2_Nonsense_Mutation_p.Q384*|CMIP_uc010vnq.2_Nonsense_Mutation_p.Q291*|CMIP_uc002fgr.2_Nonsense_Mutation_p.Q325*|CMIP_uc010vnr.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	444						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGTTTGCTTCAACCCATTCC	0.542000														26			7		0	0	0.003080	0	0
IL13	3596	broad.mit.edu	37	5	131995466	131995466	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:131995466C>T	uc003kxj.1	+	2	293	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	93					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTGCCATCGAGAAGACCC	0.637000														31			47		0	0	0.003610	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	T	T	rs144363872	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29430158C>T	uc003nmi.3	+	2	1055	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_uc003nmj.1_Silent_p.F204F|OR2H1_uc010jri.2_Silent_p.F126F|OR2H1_uc021ytr.1_Silent_p.F204F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000														49			169		0	0	0.003610	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444353	84444353	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84444353T>C	uc010chj.3	+	5	586	c.497T>C	c.(496-498)gTt>gCt	p.V166A	ATP2C2_uc002fhx.3_Missense_Mutation_p.V166A|ATP2C2_uc002fhy.3_Missense_Mutation_p.V183A|ATP2C2_uc002fhz.3_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	166					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCAAGATGGTTCCTCCAGAA	0.507000														38			15		0	0	0.006122	0	0
KCNA6	3742	broad.mit.edu	37	12	4920691	4920691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920691G>A	uc001qng.3	+	0	2350	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	KCNA6_uc021qtr.1_Missense_Mutation_p.G495E	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	495						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						ACTGACAACGGACTTGGCAAG	0.592000										HNSCC(72;0.22)				35			8		0	0	0.003080	0	0
RGS7	6000	broad.mit.edu	37	1	240975259	240975259	+	Silent	SNP	G	A	A	rs114051974	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240975259G>A	uc001hyt.2	-	6	591	c.537C>T	c.(535-537)ttC>ttT	p.F179F	RGS7_uc010pyh.2_Silent_p.F321F|RGS7_uc010pyj.1_Silent_p.F263F|RGS7_uc001hyu.2_Silent_p.F347F|RGS7_uc009xgn.1_Silent_p.F294F|RGS7_uc001hyv.2_Silent_p.F347F|RGS7_uc001hyw.2_Silent_p.F347F	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	347					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.D178Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAAATTTAAGGAACTGTTCTC	0.418000														72			23		0	0	0.002299	0	0
LPA	4018	broad.mit.edu	37	6	161006211	161006211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:161006211G>A	uc003qtl.3	-	26	4276	c.4156C>T	c.(4156-4158)Cag>Tag	p.Q1386*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3894	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCAGTCCTGGACCCCAGTG	0.433000														21			86		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	132051766	132051766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:132051766C>T	uc003ytd.4	-	0	1070	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	ADCY8_uc010mds.3_Missense_Mutation_p.G272S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	272					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCACGTAGCCTATGCCGTCG	0.667000										HNSCC(32;0.087)				23			7		0	0	0.001984	0	0
IMMT	10989	broad.mit.edu	37	2	86400787	86400788	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:86400787_86400788GG>AA	uc002sqz.4	-	3	794_795	c.406_407CC>TT	c.(406-408)cca>TTa	p.P136L	IMMT_uc002sqy.4_5'Flank|IMMT_uc010yte.2_Missense_Mutation_p.P136L|IMMT_uc002srb.4_Missense_Mutation_p.P136L|IMMT_uc002sra.4_Missense_Mutation_p.P136L|IMMT_uc010ytd.2_Missense_Mutation_p.P136L|IMMT_uc002src.1_5'Flank|IMMT_uc002sre.3_Missense_Mutation_p.P136L|IMMT_uc010fgs.1_Missense_Mutation_p.P136L|IMMT_uc010ytf.1_Missense_Mutation_p.P136L	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	136						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGAAGCTGGAGTATCTCCC	0.351000														10			13		0	0	0.004672	0	0
UNC5D	137970	broad.mit.edu	37	8	35631824	35631824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:35631824G>A	uc003xjr.2	+	15	2814	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	UNC5D_uc003xjs.2_Missense_Mutation_p.R824Q|UNC5D_uc003xju.2_Missense_Mutation_p.R405Q	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	829					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TAGAGTGAACGAGAAACCATC	0.423000														9			15		0	0	0.004990	0	0
ZNF208	7757	broad.mit.edu	37	19	22157589	22157589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:22157589G>A	uc021urr.1	-	3	396	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	ZNF208_uc002nqo.1_Nonsense_Mutation_p.Q83*	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAAAGATCTTGAGCAAAATGA	0.294000														28			9		0	0	0.006214	0	0
CLTC	1213	broad.mit.edu	37	17	57738836	57738836	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:57738836G>A	uc002ixr.1	+	7	1655	c.1212G>A	c.(1210-1212)cgG>cgA	p.R404R	CLTC_uc002ixp.3_Silent_p.R400R|CLTC_uc002ixq.1_Silent_p.R400R	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	400	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTATCCGTCGGTTCCAGAGTG	0.448000			T	"""ALK, TFE3"""	"""ALCL, renal """									92			48		0	0	0.003610	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946894	30946894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:30946894C>T	uc009yjk.1	-	10	1372	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E94K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	66					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCAAATATTTCCTTCCCCTTT	0.348000														31			88		0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31324044	31324044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:31324044C>T	uc010dmg.1	+	11	4287	c.4232C>T	c.(4231-4233)cCg>cTg	p.P1411L	ASXL3_uc002kxq.2_Missense_Mutation_p.P1118L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1411					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						GTTGCACACCCGACCGTCGCA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			67		0	0	0.003610	0	0
GNA15	2769	broad.mit.edu	37	19	3155833	3155833	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:3155833C>T	uc002lxf.2	+	4	885	c.627C>T	c.(625-627)gtC>gtT	p.V209V		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	209					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCGTGGACGTCGGGGGCCAGA	0.577000														33			16		0	0	0.006122	0	0
MICA	100507436	broad.mit.edu	37	6	31379747	31379747	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31379747C>G	uc003ntk.1	+	3	676	c.637C>G	c.(637-639)Cgc>Ggc	p.R213G	MICA_uc003rxz.1_Missense_Mutation_p.R75G|MICA_uc021yun.1_Missense_Mutation_p.R116G|MICA_uc021yuo.1_Missense_Mutation_p.R116G	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	213	Ig-like C1-type.				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAATGTCACCCGCAGCGAGGC	0.572000														24			41		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13565990	13565990	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13565990C>T	uc002mwy.3	-	1	566	c.330G>A	c.(328-330)gcG>gcA	p.A110A	CACNA1A_uc010xnd.2_Silent_p.A110A|CACNA1A_uc021ups.1_Silent_p.A110A|CACNA1A_uc010xne.2_Silent_p.A110A|CACNA1A_uc010dze.2_Silent_p.A110A|CACNA1A_uc021upt.1_Silent_p.A110A	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	110					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGATGCAATTCGCTATGATGG	0.473000														147			45		0	0	0.003610	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956109	32956109	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:32956109G>A	uc002hif.3	+	4	1282	c.954G>A	c.(952-954)agG>agA	p.R318R		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	318						integral to membrane		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCAAGCGGAGGATCATGTGGC	0.612000														93			57		0	0	0.003610	0	0
C2CD3	26005	broad.mit.edu	37	11	73785570	73785570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73785570G>A	uc001ouu.2	-	23	4906	c.4679C>T	c.(4678-4680)tCt>tTt	p.S1560F	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1560						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGAGGAAAGAGAGGAAAGAAC	0.507000														15			9		0	0	0.000673	0	0
SPCS2	9789	broad.mit.edu	37	1	28422782	28422782	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:28422782C>T	uc010ofv.1	-	0	288	c.152G>A	c.(151-153)tGg>tAg	p.W51*		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	51					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						TGATCCATCCCACTTGTCAAT	0.448000														4			5		0	0	0.000602	0	0
LAMB3	3914	broad.mit.edu	37	1	209788715	209788715	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:209788715G>A	uc001hhg.3	-	21	3810	c.3420C>T	c.(3418-3420)atC>atT	p.I1140I	LAMB3_uc009xco.3_Silent_p.I1140I|LAMB3_uc001hhh.3_Silent_p.I1140I	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1140	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCGCAGCATGATGGCCTGGC	0.587000														32			51		0	0	0.003610	0	0
GDPD3	79153	broad.mit.edu	37	16	30122787	30122787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30122787G>A	uc002dwp.3	-	6	708	c.629C>T	c.(628-630)tCc>tTc	p.S210F	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.S148F|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	210	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CAGGTAGTAGGAAAGCAGCAC	0.567000														93			22		0	0	0.003954	0	0
ASXL2	55252	broad.mit.edu	37	2	25965968	25965968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25965968G>A	uc002rgs.2	-	11	3459	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACTGAGAGAAGATTCTGC	0.507000														67			26		0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32016312	32016313	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32016312_32016313GG>AA	uc003nzl.2	-	28	10068_10069	c.9866_9867CC>TT	c.(9865-9867)tcc>tTT	p.S3289F	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3336	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTACCAGGAAGGAGTCAAAGGG	0.728000														354			42		0	0	0.004672	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152613	50152614	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:50152613_50152614CC>TT	uc001zxu.3	-	27	3498_3499	c.3356_3357GG>AA	c.(3355-3357)cgg>cAA	p.R1119Q	ATP8B4_uc010ber.3_Missense_Mutation_p.R992Q|ATP8B4_uc010ufd.2_Missense_Mutation_p.R929Q|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.R122Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1119					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCTGCGGGTCCGAGGCCTTCG	0.500000														48			24		0	0	0.004672	0	0
SOX30	11063	broad.mit.edu	37	5	157078476	157078476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:157078476G>A	uc003lxb.1	-	0	953	c.611C>T	c.(610-612)cCg>cTg	p.P204L	SOX30_uc003lxc.1_Missense_Mutation_p.P204L|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	204					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGCTGCCGGGCTTTTGCC	0.657000														112			27		0	0	0.002096	0	0
ACAN	176	broad.mit.edu	37	15	89386847	89386847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:89386847C>T	uc010upo.1	+	5	1393	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	ACAN_uc002bmx.3_Missense_Mutation_p.P340L|ACAN_uc010upp.1_Missense_Mutation_p.P340L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	340					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACCCCGACCCCTCATCCCGC	0.642000														74			37		0	0	0.002222	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526564	71526564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:71526564C>T	uc009zrt.1	-	5	647	c.485G>A	c.(484-486)gGa>gAa	p.G162E	TSPAN8_uc001swk.1_Missense_Mutation_p.G162E|TSPAN8_uc001swj.1_Missense_Mutation_p.G162E	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	162					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.W161L(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AAAATTATTTCCCCAATCAGC	0.368000														647			107		0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48552675	48552675	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48552675G>T	uc003gyh.1	-	37	5172	c.4567C>A	c.(4567-4569)Cgg>Agg	p.R1523R	FRYL_uc003gyk.3_Silent_p.R1523R|FRYL_uc003gyg.1_Silent_p.R219R|FRYL_uc003gyi.1_Silent_p.R412R	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1523					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGATGTTGCCGATTCAAATGA	0.363000														39			31		1.90571e-15	3.02887e-15	0.004289	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161166022	161166022	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161166022C>T	uc001fyt.4	-	2	1457	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	343	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.R343Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCACAGCTCCGAGCCGGGT	0.557000														57			12		0	0	0.001368	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367392	105367392	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105367392G>A	uc003ylx.1	+	2	1366	c.1317G>A	c.(1315-1317)cgG>cgA	p.R439R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	439					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCAAAAGACGGCTGAGTCTCT	0.478000														24			28		0	0	0.001512	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716951	75716951	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:75716951G>A	uc010oqz.1	-	5	472	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	SLC44A5_uc001dgt.2_Silent_p.L97L|SLC44A5_uc001dgs.2_Silent_p.L55L|SLC44A5_uc001dgr.2_Silent_p.L55L|SLC44A5_uc001dgu.3_Silent_p.L97L|SLC44A5_uc010ora.2_Silent_p.L91L|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	97						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCGTAACAGGTTAAAGTAA	0.428000														51			23		0	0	0.003954	0	0
ATP2B4	493	broad.mit.edu	37	1	203667392	203667392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203667392C>T	uc001gzw.3	+	2	1198	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	ATP2B4_uc001gzv.3_Missense_Mutation_p.L101F|ATP2B4_uc009xaq.3_Missense_Mutation_p.L101F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	101					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGGGAAGCTCTTCAAGATGT	0.498000														74			26		0	0	0.004656	0	0
IL5RA	3568	broad.mit.edu	37	3	3139581	3139581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:3139581C>T	uc011ask.2	-	7	1326	c.682G>A	c.(682-684)Gat>Aat	p.D228N	IL5RA_uc010hbq.3_Missense_Mutation_p.D228N|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.D228N|IL5RA_uc011asl.2_Missense_Mutation_p.D228N|IL5RA_uc011asm.1_Missense_Mutation_p.D228N|IL5RA_uc010hbt.2_Missense_Mutation_p.D228N|IL5RA_uc011asn.1_Missense_Mutation_p.D228N|IL5RA_uc010hbu.2_Missense_Mutation_p.D228N	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	228					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACAGCTGATCAAAGGGCCTG	0.502000														33			10		0	0	0.000673	0	0
PCDH20	64881	broad.mit.edu	37	13	61986204	61986204	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:61986204G>A	uc001vid.4	-	1	2392	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	PCDH20_uc010thj.2_Silent_p.L676L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	649	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCACCACAGAGAGGGCGACCC	0.448000														20			26		0	0	0.003330	0	0
HCRTR1	3061	broad.mit.edu	37	1	32086542	32086542	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32086542G>A	uc009vtx.2	+	4	862	c.477G>A	c.(475-477)cgG>cgA	p.R159R	HCRTR1_uc001btc.4_Silent_p.R73R|HCRTR1_uc001btd.2_Silent_p.R159R|HCRTR1_uc010ogl.2_Silent_p.R159R	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	159					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCACAGCCCGGCGGGCCCGTG	0.617000														23			15		0	0	0.003163	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														84			93		0	0	0.003610	0	0
DROSHA	29102	broad.mit.edu	37	5	31526377	31526377	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526377G>A	uc003jhg.2	-	3	1022	c.663C>T	c.(661-663)tcC>tcT	p.S221S	DROSHA_uc003jhh.2_Silent_p.S221S|DROSHA_uc003jhi.2_Silent_p.S221S|DROSHA_uc010iui.1_Silent_p.S212S	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	221	Arg-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCCTTTCTGGGGACCTTCTCT	0.562000														47			9		0	0	0.000673	0	0
XKR4	114786	broad.mit.edu	37	8	56435966	56435966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:56435966G>A	uc003xsf.3	+	2	1165	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	378						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGTTCTGCTGGCACTTCTTC	0.572000														55			50		0	0	0.003610	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46056265	46056266	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46056265_46056266CC>GT	uc010wlc.2	+	10	1243_1244	c.1119_1120CC>GT	c.(1117-1122)ttcctt>ttGTtt	p.373_374FL>LF	CDK5RAP3_uc002imq.1_Missense_Mutation_p.128_129FL>LF|CDK5RAP3_uc002imr.3_Missense_Mutation_p.353_354FL>LF|CDK5RAP3_uc002ims.3_Missense_Mutation_p.266_267FL>LF	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	353					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGAATCAGTTCCTTGATGAGCT	0.559000											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			34		0	0	0.004672	0	0
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248685814C>T	uc001ien.1	+	0	867	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I288I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443000														29			42		0	0	0.002222	0	0
ACAD9	28976	broad.mit.edu	37	3	128627937	128627937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128627937C>T	uc003ela.4	+	13	1682	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	ACAD9_uc010hsw.1_3'UTR|ACAD9_uc011bks.2_Missense_Mutation_p.L371F|ACAD9_uc003elb.3_Missense_Mutation_p.L371F|ACAD9_uc003ele.3_Missense_Mutation_p.L146F	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	494						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCACCCCAGTCTTGCGGTGAG	0.597000														14			13		0	0	0.001368	0	0
CFHR1	3078	broad.mit.edu	37	1	196762501	196762501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196762501G>A	uc001gtl.3	+	5	938	c.851G>A	c.(850-852)gGa>gAa	p.G284E	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.G223E|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	282	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGTTAAAAGGAAGAAGTGAC	0.259000														57			15		0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26270264	26270264	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26270264G>A	uc003abz.1	+	22	4213	c.3963G>A	c.(3961-3963)aaG>aaA	p.K1321K	MYO18B_uc003aca.1_Silent_p.K1202K|MYO18B_uc010guy.1_Silent_p.K1203K|MYO18B_uc010guz.1_Silent_p.K1202K|MYO18B_uc011aka.1_Silent_p.K475K|MYO18B_uc011akb.1_Silent_p.K834K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1321	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTTTCTCAAGGCAGGTGTGA	0.547000														15			107		0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421163	55421163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55421163G>A	uc001sgp.4	+	1	1318	c.940G>A	c.(940-942)Gat>Aat	p.D314N	NEUROD4_uc021qyr.1_Missense_Mutation_p.D314N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	314					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CATGTCCTATGATTCCTACCC	0.453000														807			68		0	0	0.003610	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984358	77984358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:77984358G>A	uc002jxj.3	-	2	496	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	127						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGCTCCGTCGGGGAGGGCTG	0.701000														22			7		0	0	0.003080	0	0
UPF3B	65109	broad.mit.edu	37	X	118971902	118971903	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:118971902_118971903GG>AA	uc004erz.2	-	9	1219_1220	c.1119_1120CC>TT	c.(1117-1122)cgccgt>cgTTgt	p.R374C	UPF3B_uc004esa.2_Missense_Mutation_p.R361C	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	374	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R373C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTCTGCCTACGGCGCTCTTCTT	0.465000														13			65		0	0	0.004672	0	0
DENND1A	57706	broad.mit.edu	37	9	126531808	126531808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126531808G>A	uc011lzm.1	-	1	285	c.71C>T	c.(70-72)cCc>cTc	p.P24L	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Missense_Mutation_p.P56L|DENND1A_uc004boa.1_Missense_Mutation_p.P56L|DENND1A_uc004bob.1_Missense_Mutation_p.P26L|DENND1A_uc004boc.3_Intron	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	56	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CACATAGAAGGGGAAACAAAA	0.333000														83			23		0	0	0.001786	0	0
CPZ	8532	broad.mit.edu	37	4	8609090	8609090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:8609090C>T	uc003glm.3	+	6	1339	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.P378S|CPZ_uc003gln.3_Missense_Mutation_p.P252S	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	389					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGTCCTACCCCTTCGACTT	0.602000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			9		0	0	0.004482	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945102	34945102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:34945102G>A	uc003jjb.3	+	7	1341	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	DNAJC21_uc003jjc.3_Missense_Mutation_p.E372K|DNAJC21_uc010iuu.1_Missense_Mutation_p.E256K|DNAJC21_uc003jjd.3_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	372	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAATTCTGAGGAAGAAATGGA	0.333000														26			67		0	0	0.003610	0	0
PDGFB	5155	broad.mit.edu	37	22	39621782	39621782	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:39621782C>T	uc003axf.3	-	5	1661	c.672G>A	c.(670-672)cgG>cgA	p.R224R	PDGFB_uc003axe.3_Silent_p.R209R	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	224					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.R224R(3)|p.R209R(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GCTTGAATTTCCGGTGCTTGC	0.622000			T	COL1A1	DFSP									27			11		0	0	0.000978	0	0
TCF4	6925	broad.mit.edu	37	18	52921919	52921919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:52921919C>T	uc002lga.3	-	15	1525	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	TCF4_uc021ukg.1_Missense_Mutation_p.E227K|TCF4_uc021ukh.1_Missense_Mutation_p.E227K|TCF4_uc002lfw.4_Missense_Mutation_p.E227K|TCF4_uc010xdu.1_Missense_Mutation_p.E257K|TCF4_uc010xdv.1_Missense_Mutation_p.E257K|TCF4_uc021uki.1_Missense_Mutation_p.E316K|TCF4_uc002lfx.2_Missense_Mutation_p.E316K|TCF4_uc010xdw.1_Missense_Mutation_p.E257K|TCF4_uc002lfy.2_Missense_Mutation_p.E345K|TCF4_uc010xdx.1_Missense_Mutation_p.E363K|TCF4_uc021ukj.1_Missense_Mutation_p.E327K|TCF4_uc021ukk.1_Missense_Mutation_p.E327K|TCF4_uc021ukl.1_Missense_Mutation_p.E384K|TCF4_uc002lfz.2_Missense_Mutation_p.E387K|TCF4_uc010dph.1_Missense_Mutation_p.E387K|TCF4_uc010dpi.3_Missense_Mutation_p.E393K|TCF4_uc010xdy.1_Missense_Mutation_p.E363K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	387					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAACGATCTTCAATTCGGCTT	0.408000														10			6		0	0	0.003080	0	0
NDRG2	57447	broad.mit.edu	37	14	21490298	21490298	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:21490298C>T	uc001vyy.3	-	5	417	c.267G>A	c.(265-267)caG>caA	p.Q89Q	NDRG2_uc010tll.2_Silent_p.Q85Q|NDRG2_uc001vyt.3_Silent_p.Q2Q|NDRG2_uc001vyu.3_Silent_p.Q75Q|NDRG2_uc001vyv.3_Silent_p.Q75Q|NDRG2_uc001vyw.3_Silent_p.Q75Q|NDRG2_uc001vzb.3_Silent_p.Q29Q|NDRG2_uc001vyx.3_Silent_p.Q89Q|NDRG2_uc001vza.3_Silent_p.Q75Q|NDRG2_uc001vyz.3_Silent_p.Q75Q|NDRG2_uc001vzc.3_Silent_p.Q75Q|NDRG2_uc010aig.3_Silent_p.Q89Q|NDRG2_uc001vze.3_Silent_p.Q89Q|NDRG2_uc001vzd.3_Silent_p.Q89Q|NDRG2_uc001vzg.3_Silent_p.Q75Q|NDRG2_uc001vzf.3_Silent_p.Q75Q	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	89					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAATGATTTCCTGCATGTCCT	0.493000														38			43		0	0	0.002522	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56443522G>A	uc010ygg.2	-	0	181	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	52	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATACGCGGGAAGTGCCCCT	0.547000														37			75		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139616993	139616993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139616993C>T	uc003yvd.3	-	58	4571	c.4124G>A	c.(4123-4125)gGa>gAa	p.G1375E	COL22A1_uc011ljo.2_Missense_Mutation_p.G655E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1375	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)			GCCTGGGACTCCTTTCTCTCC	0.507000										HNSCC(7;0.00092)				16			6		0	0	0.003080	0	0
PSD4	23550	broad.mit.edu	37	2	113943480	113943480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113943480G>A	uc002tjc.3	+	4	1459	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	PSD4_uc002tjd.3_Missense_Mutation_p.E47K|PSD4_uc002tje.3_Intron|PSD4_uc002tjf.3_Missense_Mutation_p.E47K	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	426					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACACCCCCAGGAATCTCTTCC	0.642000														10			12		0	0	0.001368	0	0
FLT4	2324	broad.mit.edu	37	5	180048671	180048672	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180048671_180048672CC>TT	uc003mlz.4	-	12	1969_1970	c.1890_1891GG>AA	c.(1888-1893)ggggcg>ggAAcg	p.A631T	FLT4_uc003mma.4_Missense_Mutation_p.A631T|FLT4_uc003mmb.1_Missense_Mutation_p.A164T|FLT4_uc011dgy.2_Missense_Mutation_p.A631T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	631	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGCGCGCCCCAGGTGCCA	0.678000														12			17		0	0	0.004672	0	0
KCNK5	8645	broad.mit.edu	37	6	39159434	39159434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:39159434C>T	uc003oon.3	-	4	1096	c.732G>A	c.(730-732)tgG>tgA	p.W244*		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	244					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGCTCACCTTCCAGTTGACAA	0.592000														106			32		0	0	0.003271	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6263963	6263964	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6263963_6263964CA>AG	uc002kmz.4	-	4	361_362	c.201_202TG>CT	c.(199-204)cctgtt>ccCTtt	p.V68F	L3MBTL4_uc002kmy.4_Missense_Mutation_p.V68F|L3MBTL4_uc010dkt.3_Missense_Mutation_p.V68F	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	68					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AACAGCTCAACAGGTGCTGCGA	0.446000														12			54		0	0	0.004672	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799844	159799844	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:159799844C>T	uc001fue.4	+	1	439	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	77						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TTCCCGCTTCCTGGGCCGAGC	0.612000														130			31		0	0	0.001786	0	0
KLK7	5650	broad.mit.edu	37	19	51483678	51483678	+	Missense_Mutation	SNP	G	A	A	rs149466250	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51483678G>A	uc002puo.3	-	3	389	c.287C>T	c.(286-288)tCg>tTg	p.S96L	KLK7_uc002pup.3_Missense_Mutation_p.S96L|KLK7_uc021uyj.1_Missense_Mutation_p.S89L|KLK7_uc010eok.3_Missense_Mutation_p.S24L	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	96	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GAATGACTTCGAGGCCTTGAT	0.557000														36			16		0	0	0.006122	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967459	142967459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:142967459G>A	uc004fca.3	+	0	287	c.257G>A	c.(256-258)aGa>aAa	p.R86K		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	86							acid-amino acid ligase activity	p.R86I(4)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGGAAAGAATAAGTTTA	0.403000														4			44		0	0	0.001951	0	0
KCNH3	23416	broad.mit.edu	37	12	49944054	49944054	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49944054C>T	uc001ruh.1	+	9	2120	c.1860C>T	c.(1858-1860)taC>taT	p.Y620Y	KCNH3_uc010smj.1_Silent_p.Y560Y	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	620					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGCCCTCTACTTTGTCTGCT	0.672000														72			12		0	0	0.001855	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540348	94540348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:94540348C>T	uc003unp.3	+	1	1205	c.923C>T	c.(922-924)tCt>tTt	p.S308F	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S308F|PPP1R9A_uc011kif.2_Missense_Mutation_p.S308F|PPP1R9A_uc003unq.3_Missense_Mutation_p.S308F|PPP1R9A_uc011kig.2_Missense_Mutation_p.S308F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	308						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACTCCACATCTAATCAACAG	0.478000										HNSCC(28;0.073)				53			25		0	0	0.003330	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002660	57002660	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:57002660G>A	uc001cyj.2	-	1	832	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	88					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCACGGCACAGAGCACAGCGT	0.473000														57			27		0	0	0.002445	0	0
GALM	130589	broad.mit.edu	37	2	38903126	38903126	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:38903126T>A	uc002rqy.3	+	1	515	c.263T>A	c.(262-264)tTc>tAc	p.F88Y		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	88					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AAAGGAACCTTCAAGGTGGAT	0.498000														71			19		0	0	0.001523	0	0
POLR3GL	84265	broad.mit.edu	37	1	145456714	145456715	+	Missense_Mutation	DNP	AA	TC	TC			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145456714_145456715AA>TC	uc001enp.1	-	7	686_687	c.579_580TT>GA	c.(577-582)gattac>gaGAac	p.193_194DY>EN		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	193										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACATGATGTAATCAGTTTCCT	0.411000														107			42		0	0	0.004672	0	0
GFAP	2670	broad.mit.edu	37	17	42990641	42990641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42990641G>A	uc021tyh.1	-	3	842	c.776C>T	c.(775-777)tCc>tTc	p.S259F	GFAP_uc002ihq.3_Missense_Mutation_p.S259F|GFAP_uc002ihr.3_Missense_Mutation_p.S259F|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	259	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)				GGCTACCTTGGAGCGGTACCA	0.602000														132			60		0	0	0.003610	0	0
MYO1G	64005	broad.mit.edu	37	7	45009048	45009048	+	Missense_Mutation	SNP	C	T	T	rs141469545		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:45009048C>T	uc003tmh.2	-	11	1682	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	MYO1G_uc003tmg.2_Missense_Mutation_p.R275Q|MYO1G_uc010kym.2_Missense_Mutation_p.R398Q|MYO1G_uc003tmi.1_Missense_Mutation_p.R425Q|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.R275Q	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	513	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						CCGGAAGTCTCGGCCAAACTC	0.582000														146			49		0	0	0.003610	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														27			10		0	0	0.006214	0	0
DOCK2	1794	broad.mit.edu	37	5	169096332	169096332	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169096332G>A	uc003maf.3	+	3	248	c.168_splice	c.e3+1	p.Q56_splice	DOCK2_uc011der.2_Splice_Site	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	56	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTTACAGGTAAGGTCAC	0.423000														45			85		0	0	0.003610	0	0
PLOD3	8985	broad.mit.edu	37	7	100855845	100855845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100855845G>A	uc003uyd.3	-	8	1427	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	324					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGTCGGGGGGATAGTCCAG	0.607000														6			92		0	0	0.003610	0	0
MYC	4609	broad.mit.edu	37	8	128751083	128751083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:128751083C>T	uc022bbe.1	+	1	1145	c.575C>T	c.(574-576)tCg>tTg	p.S192L	MYC_uc003ysi.3_Missense_Mutation_p.S207L			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	192					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ATCGACCCCTCGGTGGTCTTC	0.667000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			26		0	0	0.007291	0	0
LPHN2	23266	broad.mit.edu	37	1	82409444	82409444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:82409444C>T	uc001dit.4	+	5	1370	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P397S|LPHN2_uc001div.3_Missense_Mutation_p.P397S|LPHN2_uc009wcd.3_Missense_Mutation_p.P397S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCACCTGATCCTGCCCAAGG	0.343000														26			13		0	0	0.001368	0	0
ABCB5	340273	broad.mit.edu	37	7	20778753	20778753	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:20778753G>A	uc010kuh.3	+	23	3252	c.3015G>A	c.(3013-3015)ggG>ggA	p.G1005G	ABCB5_uc003suw.4_Silent_p.G560G	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	560					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						GTCAAGAAGGGAAAAAGCCAG	0.478000														12			5		0	0	0.000602	0	0
NAB2	4665	broad.mit.edu	37	12	57485152	57485152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57485152C>T	uc001smz.3	+	1	706	c.328C>T	c.(328-330)Cca>Tca	p.P110S		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	110	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCCACCAATCCAGGGCTCTT	0.592000														354			31		0	0	0.002445	0	0
BSN	8927	broad.mit.edu	37	3	49694051	49694051	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49694051C>T	uc003cxe.4	+	4	7176	c.7062C>T	c.(7060-7062)ttC>ttT	p.F2354F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2354					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)		GGCCAGGGTTCGAGAAAGAGG	0.652000														4			6		0	0	0.003080	0	0
NLRP11	204801	broad.mit.edu	37	19	56321696	56321696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56321696C>T	uc010ygf.2	-	4	991	c.280G>A	c.(280-282)Gag>Aag	p.E94K	NLRP11_uc002qlz.3_5'UTR|NLRP11_uc002qmb.3_5'UTR|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	94							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)		TTGCATGCCTCCTGATTGCCT	0.363000														31			7		0	0	0.006214	0	0
RAD51C	5889	broad.mit.edu	37	17	56774133	56774133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56774133G>A	uc002iwu.3	+	2	526	c.484G>A	c.(484-486)Gga>Aga	p.G162R	RAD51C_uc010woa.1_Missense_Mutation_p.G162R|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Intron|RAD51C_uc010wob.1_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	162					DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATACAGAGGGAAGTTTTAT	0.423000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					63			18		0	0	0.001216	0	0
LPPR1	54886	broad.mit.edu	37	9	104032177	104032177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:104032177G>A	uc004bbb.3	+	2	478	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	LPPR1_uc011lvi.2_Missense_Mutation_p.G3R|LPPR1_uc004bbc.3_Missense_Mutation_p.G27R|LPPR1_uc010mtc.3_Missense_Mutation_p.G11R	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	27						integral to membrane	catalytic activity										CATCATGGCTGGGACAGTGCT	0.522000														28			11		0	0	0.001368	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694116	84694116	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:84694116C>T	uc002bjz.4	+	26	4808	c.4584C>T	c.(4582-4584)gcC>gcT	p.A1528A	ADAMTSL3_uc010bmt.1_Silent_p.A1528A	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1528	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCATGTGCCCCTAAAGACC	0.527000														43			11		0	0	0.001368	0	0
FAM179A	165186	broad.mit.edu	37	2	29222229	29222229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29222229C>T	uc010ezl.3	+	3	673	c.322C>T	c.(322-324)Cct>Tct	p.P108S	FAM179A_uc010ymm.2_Missense_Mutation_p.P108S	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	108							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGCTCCTCCCTTCTCCGGA	0.607000														13			3		0	0	0.004672	0	0
CHD2	1106	broad.mit.edu	37	15	93557971	93557971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:93557971C>T	uc002bsp.3	+	36	5313	c.4738C>T	c.(4738-4740)Cgt>Tgt	p.R1580C	CHD2_uc002bso.1_Missense_Mutation_p.R1580C	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1580					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAACCATTTCGTCCAGAGGC	0.507000														75			34		0	0	0.005524	0	0
HELB	92797	broad.mit.edu	37	12	66717914	66717914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66717914C>T	uc001sti.2	+	9	2477	c.2449C>T	c.(2449-2451)Cct>Tct	p.P817S	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	817					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGGTACGCTTCCTGATTTTGC	0.358000														192			31		0	0	0.002445	0	0
CD164L2	388611	broad.mit.edu	37	1	27706630	27706630	+	Silent	SNP	G	A	A	rs145796710	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:27706630G>A	uc001boc.3	-	4	505	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	Homo sapiens CD164 sialomucin-like 2 (CD164L2), mRNA.	143						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGACACCTCCGATAAAGCTGG	0.612000														42			25		0	0	0.004656	0	0
MED13L	23389	broad.mit.edu	37	12	116429486	116429486	+	Silent	SNP	G	A	A	rs145072799		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:116429486G>A	uc001tvw.3	-	16	3328	c.3273C>T	c.(3271-3273)ccC>ccT	p.P1091P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1091					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAGAGTTGAGGGGCCGTGTAG	0.547000														9			8		0	0	0.004482	0	0
RERGL	79785	broad.mit.edu	37	12	18238594	18238594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18238594C>T	uc001rdq.3	-	3	340	c.146G>A	c.(145-147)aGg>aAg	p.R49K		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	49	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TAGTTGTTTCCTTTCCAAACA	0.284000														8			25		0	0	0.002096	0	0
HNF1A	6927	broad.mit.edu	37	12	121432128	121432128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121432128G>A	uc001tzg.3	+	3	898	c.875G>A	c.(874-876)gGg>gAg	p.G292E	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.G292E|HNF1A_uc001tzf.3_Missense_Mutation_p.G292E|HNF1A_uc010szn.2_Missense_Mutation_p.G292E|HNF1A_uc021rfa.1_Missense_Mutation_p.G292E|HNF1A_uc021rfb.1_Missense_Mutation_p.G164E|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	292					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.G292fs*25(30)|p.P291fs*51(20)|p.P291fs*47(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCCCCCCAGGGCCAGGCCCG	0.662000									Hepatic Adenoma, Familial Clustering of					70			36		0	0	0.006230	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569796	47569796	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47569796G>A	uc002pga.4	-	14	3767	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1243							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCCGGGCTGGGGTGGGGCAC	0.701000														8			10		0	0	0.000673	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36064925	36064925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:36064925G>A	uc001wtj.3	-	35	5997	c.5606C>T	c.(5605-5607)cCa>cTa	p.P1869L	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1869L|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1882L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1916L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1869	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCAAAATATGGAGTGGTCAA	0.353000														51			20		0	0	0.001216	0	0
ZNF836	162962	broad.mit.edu	37	19	52659810	52659810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52659810G>A	uc010ydj.2	-	4	1648	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	ZNF836_uc010ydi.2_Missense_Mutation_p.H376Y	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTCTCTGGTGATTTACAAGA	0.403000														16			19		0	0	0.001216	0	0
FRY	10129	broad.mit.edu	37	13	32735336	32735336	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32735336C>T	uc001utx.3	+	16	2336	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTATTCCTCGACTGCTTCC	0.368000														38			21		0	0	0.002299	0	0
SND1	27044	broad.mit.edu	37	7	127729645	127729645	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127729645C>T	uc003vmi.3	+	21	2749	c.2523C>T	c.(2521-2523)acC>acT	p.T841T	SND1_uc010lle.3_Silent_p.T494T	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	841					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCATGTCACCCTGCAGTTTG	0.597000														77			25		0	0	0.003330	0	0
SETBP1	26040	broad.mit.edu	37	18	42530992	42530992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:42530992C>T	uc010dni.3	+	3	1983	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	563						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTGCATATCCCATCACCCC	0.522000									Schinzel-Giedion syndrome					131			48		0	0	0.003610	0	0
GSDMB	55876	broad.mit.edu	37	17	38073467	38073467	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38073467G>T	uc010cwj.3	-	1	234	c.103C>A	c.(103-105)Cgc>Agc	p.R35S	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Missense_Mutation_p.R35S|GSDMB_uc002hth.3_Missense_Mutation_p.R35S|GSDMB_uc010wem.2_Missense_Mutation_p.R35S	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	35						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGGAAGCAGCGGAATCTATCA	0.483000														190			6		0.00307968	0.0048155	0.003080	1	0
ZNF28	7576	broad.mit.edu	37	19	53304429	53304429	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53304429G>A	uc002qad.3	-	3	826	c.669C>T	c.(667-669)tcC>tcT	p.S223S	ZNF28_uc002qac.3_Silent_p.S169S|ZNF28_uc010eqe.3_Silent_p.S169S|ZNF28_uc021uza.1_Silent_p.S170S	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TACAATTAAAGGATTTGCCAC	0.323000														82			31		0	0	0.001786	0	0
C16orf88	400506	broad.mit.edu	37	16	19718265	19718265	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19718265C>T	uc002dgq.3	-	4	1359	c.1344G>A	c.(1342-1344)agG>agA	p.R448R		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	448	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						TGGAAGCGTTCCTGTCAATGT	0.507000														173			53		0	0	0.003610	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999715	46999715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:46999715C>T	uc001jec.3	+	2	970	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	GPRIN2_uc021ppt.1_Missense_Mutation_p.H279Y	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	279										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGAAGATCCACTGTAGGTT	0.612000														75			16		0	0	0.004990	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735780	12735781	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:12735780_12735781CC>TT	uc004cuz.2	+	15	3341_3342	c.2835_2836CC>TT	c.(2833-2838)cccctt>ccTTtt	p.L946F	FRMPD4_uc011mij.2_Missense_Mutation_p.L938F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	946					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTACCACCCCCTTGCAGAAGA	0.584000														67			34		0	0	0.004672	0	0
DYSF	8291	broad.mit.edu	37	2	71766337	71766337	+	Missense_Mutation	SNP	C	T	T	rs139258703		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71766337C>T	uc010fen.3	+	16	1685	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	DYSF_uc010fei.3_Missense_Mutation_p.S514L|DYSF_uc010feh.3_Missense_Mutation_p.S483L|DYSF_uc002sig.4_Missense_Mutation_p.S483L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.S514L|DYSF_uc010fee.3_Missense_Mutation_p.S483L|DYSF_uc010fef.3_Missense_Mutation_p.S514L|DYSF_uc002sie.3_Missense_Mutation_p.S483L|DYSF_uc010feo.3_Missense_Mutation_p.S515L|DYSF_uc010fej.3_Missense_Mutation_p.S484L|DYSF_uc010fel.3_Missense_Mutation_p.S484L|DYSF_uc010fem.3_Missense_Mutation_p.S484L|DYSF_uc002sif.3_Missense_Mutation_p.S484L|DYSF_uc010fek.3_Missense_Mutation_p.S515L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	483						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						CTGAGTATGTCGAAAATCTCT	0.552000														64			18		0	0	0.001216	0	0
PHKA1	5255	broad.mit.edu	37	X	71915728	71915728	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:71915728T>A	uc004eax.4	-	4	587	c.286_splice	c.e4-1	p.V96_splice	PHKA1_uc004eay.4_Splice_Site_p.V96_splice|PHKA1_uc011mqi.2_Splice_Site_p.V96_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	96					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTTATCCACCTGAAAAGAACA	0.358000														8			65		0	0	0.003610	0	0
TEAD4	7004	broad.mit.edu	37	12	3129854	3129854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:3129854C>T	uc010sej.2	+	8	930	c.638C>T	c.(637-639)cCa>cTa	p.P213L	TEAD4_uc010sek.2_Missense_Mutation_p.P170L|TEAD4_uc001qln.3_Missense_Mutation_p.P84L	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	213					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			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)			CCGGCACCCCCATGGCAGGGC	0.662000														43			8		0	0	0.004482	0	0
DENND3	22898	broad.mit.edu	37	8	142190863	142190863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142190863G>A	uc003yvy.3	+	16	2892	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	DENND3_uc010mep.3_Missense_Mutation_p.E833K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	872										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGCTTCCGGAGACAACCCT	0.562000														37			22		0	0	0.003330	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716751	13716751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:13716751C>T	uc001rbt.2	-	12	3600	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1141					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGAGTTCTCCTTTGTTCGG	0.612000														14			18		0	0	0.004990	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7505331	7505331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7505331C>T	uc002mgi.3	+	0	758	c.505C>T	c.(505-507)Cca>Tca	p.P169S	ARHGEF18_uc010xjm.1_Missense_Mutation_p.P11S|ARHGEF18_uc002mgh.3_Missense_Mutation_p.P11S	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	169					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GGGTCCCCAGCCAACACCGAG	0.682000														31			11		0	0	0.001368	0	0
IL21	59067	broad.mit.edu	37	4	123534028	123534028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:123534028C>T	uc003ies.2	-	3	461	c.416G>A	c.(415-417)aGa>aAa	p.R139K	IL21_uc010int.3_Missense_Mutation_p.R139K	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	132					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313000														13			7		0	0	0.004482	0	0
NEFM	4741	broad.mit.edu	37	8	24775312	24775312	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24775312G>A	uc003xed.4	+	2	1977	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.V272V	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	648	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTCACCAGTGGAAGAGAAAG	0.507000														53			34		0	0	0.003271	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233322730G>A	uc002vst.4	+	7	956	c.879G>A	c.(877-879)acG>acA	p.T293T	ALPI_uc002vsu.4_Silent_p.T204T	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000														15			12		0	0	0.002450	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160732004	160732004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160732004G>A	uc002ubb.4	-	11	1999	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	LY75-CD302_uc010fos.3_Missense_Mutation_p.P642L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.P642L|LY75-CD302_uc010fot.2_Missense_Mutation_p.P642L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	642					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTCAGGACAGGGGTCATCAGG	0.458000														52			32		0	0	0.003755	0	0
LAMA1	284217	broad.mit.edu	37	18	6997782	6997782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6997782C>T	uc002knm.3	-	32	4859	c.4765G>A	c.(4765-4767)Gga>Aga	p.G1589R	LAMA1_uc010wzj.2_Missense_Mutation_p.G1065R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1589	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACAAAATTCCATATGGGACA	0.408000														9			39		0	0	0.002222	0	0
ARSA	410	broad.mit.edu	37	22	51063675	51063675	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51063675G>A	uc003bna.4	-	7	1432	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	ARSA_uc021wsd.1_Silent_p.P476P|ARSA_uc021wse.1_Silent_p.P476P|ARSA_uc021wsf.1_Silent_p.P476P|ARSA_uc003bmz.4_Silent_p.P474P	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	474			R -> Q (in MLD; juvenile-onset).|R -> W (in MLD; late-infantile and juvenile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCACCTGGCTGGGGCCGAAGG	0.682000														18			33		0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179432657	179432657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179432657C>T	uc021vsy.1	-	274	70723	c.70498G>A	c.(70498-70500)Gaa>Aaa	p.E23500K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17195K|TTN_uc021vta.1_Missense_Mutation_p.E17128K|TTN_uc021vtb.1_Missense_Mutation_p.E17003K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24427	Ig-like 119.						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)			ACAATATTTTCAGCATACACT	0.388000														82			53		0	0	0.003610	0	0
SYTL3	94120	broad.mit.edu	37	6	159146619	159146619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:159146619C>T	uc003qrp.3	+	11	1204	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	SYTL3_uc003qrr.3_Missense_Mutation_p.L269F|SYTL3_uc003qro.3_Missense_Mutation_p.L201F|SYTL3_uc003qrs.3_Missense_Mutation_p.L201F|SYTL3_uc011efq.2_Intron	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	269					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCAACAGAATCTCCCATCCAG	0.403000														35			106		0	0	0.003610	0	0
FAM75A2	642265	broad.mit.edu	37	9	39361075	39361075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:39361075C>T	uc004abm.3	+	3	3342	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S		NM_001040065	NP_001078921	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	1105						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCCAATGTTTCCCCCTATTCA	0.483000														176			91		0	0	0.003610	0	0
PHRF1	57661	broad.mit.edu	37	11	587401	587401	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:587401C>A	uc001lqe.3	+	3	488	c.357C>A	c.(355-357)gcC>gcA	p.A119A	PHRF1_uc010qwc.2_Silent_p.A119A|PHRF1_uc010qwd.2_Silent_p.A118A|PHRF1_uc010qwe.2_Silent_p.A115A	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	119							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGACCAGGCCGTGGGGACGC	0.552000														20			22		1.66031e-10	2.62951e-10	0.003954	1	0
FAM113B	91523	broad.mit.edu	37	12	47629193	47629193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47629193C>T	uc001rpq.3	+	1	872	c.347C>T	c.(346-348)cCc>cTc	p.P116L	FAM113B_uc001rpn.3_Missense_Mutation_p.P116L|FAM113B_uc021qxi.1_Missense_Mutation_p.P116L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	116							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GAGCACGCCCCCGACCTGGTC	0.567000														47			34		0	0	0.004289	0	0
DUOX2	50506	broad.mit.edu	37	15	45398341	45398341	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45398341G>A	uc001zun.3	-	16	2333	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	DUOX2_uc010bea.3_Silent_p.I710I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	710					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACTCCTTAGGGATCTTGAGCA	0.597000														12			16		0	0	0.007413	0	0
SERBP1	26135	broad.mit.edu	37	1	67880961	67880961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:67880961G>A	uc001ddv.3	-	6	1198	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	SERBP1_uc001ddy.3_Missense_Mutation_p.S332F|SERBP1_uc001ddw.3_Missense_Mutation_p.S338F|SERBP1_uc001ddx.3_Missense_Mutation_p.S347F	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	353					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTCCAGCTGAGACGTTATATC	0.517000														31			28		0	0	0.001786	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163171	139163171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:139163171C>T	uc021xrw.1	-	0	333	c.53G>A	c.(52-54)gGa>gAa	p.G18E		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	18					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GTTAACATTTCCCTGCAGGTA	0.507000														27			13		0	0	0.001368	0	0
OR2M4	26245	broad.mit.edu	37	1	248402688	248402688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248402688C>T	uc010pzh.2	+	0	458	c.458C>T	c.(457-459)tCt>tTt	p.S153F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTTGGGGTCTCTTGATGGG	0.458000														44			90		0	0	0.003610	0	0
GTSE1	51512	broad.mit.edu	37	22	46708096	46708096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46708096C>T	uc011aqy.2	+	4	1033	c.821C>T	c.(820-822)tCc>tTc	p.S274F	GTSE1_uc011aqz.2_Missense_Mutation_p.S121F	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	255			A -> T (in dbSNP:rs35503220).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GAGAAGGAATCCCACCGGGAT	0.537000														42			47		0	0	0.003610	0	0
ZNF878	729747	broad.mit.edu	37	19	12155424	12155424	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12155424G>A	uc021upl.1	-	3	958	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZNF878_uc002mta.1_Silent_p.F311F	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGGGACAATTGAAGGCTTTAT	0.408000														21			34		0	0	0.002445	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524125	24524125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:24524125G>A	uc002wtw.1	+	1	1025	c.392G>A	c.(391-393)gGg>gAg	p.G131E		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TACCCGGATGGGAAGTTCATT	0.597000														117			60		0	0	0.003610	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685897	125685897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:125685897G>A	uc022cds.1	-	0	695	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DCAF12L1_uc004eul.3_Missense_Mutation_p.A232V	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	232										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTATGCCAGGCAACAGTGTC	0.647000														2			20		0	0	0.001216	0	0
SIRT4	23409	broad.mit.edu	37	12	120741694	120741694	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:120741694C>T	uc001tyc.3	+	1	389	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAAACTTCGTAGGCTGGC	0.572000														8			11		0	0	0.000978	0	0
AASS	10157	broad.mit.edu	37	7	121773576	121773576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:121773576C>T	uc003vka.3	-	0	301	c.205G>A	c.(205-207)Gat>Aat	p.D69N	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.D69N|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	69	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)	CTCACCTTATCATGAATGGCC	0.423000														72			13		0	0	0.001855	0	0
FBN1	2200	broad.mit.edu	37	15	48718057	48718057	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48718057G>A	uc001zwx.2	-	58	7604	c.7209C>T	c.(7207-7209)atC>atT	p.I2403I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2403	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.I2403L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCATTCATCGATATCTGTAA	0.313000														40			17		0	0	0.006122	0	0
MYH8	4626	broad.mit.edu	37	17	10323373	10323373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10323373C>T	uc002gmm.2	-	2	267	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	58	Myosin head-like.				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						TTCCCTCCTTCTTTGCTTTGT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					217			88		0	0	0.003610	0	0
AV4S1	0	broad.mit.edu	37	14	22671026	22671026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22671026G>A	uc021rpv.1	+	1	81	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		GGAGAGTAACGAAGAAGAGCC	0.463000														27			26		0	0	0.007291	0	0
ARID3A	1820	broad.mit.edu	37	19	971923	971923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:971923C>T	uc002lql.3	+	8	1930	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	547	Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCTGCTCCCAACAAAGGA	0.662000														63			24		0	0	0.005443	0	0
SPRED2	200734	broad.mit.edu	37	2	65540704	65540704	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:65540704G>A	uc002sdr.4	-	5	1723	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	SPRED2_uc010fcw.3_Silent_p.P393P	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	396	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AGGCCCGAAGGGGCAGGTAAC	0.597000														30			11		0	0	0.000978	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058665	79058665	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:79058665G>A	uc002bej.4	-	18	3799	c.3588C>T	c.(3586-3588)ttC>ttT	p.F1196F	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1196					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						TGCCAACTGGGAAATCATTTT	0.612000														34			8		0	0	0.003080	0	0
PAPL	390928	broad.mit.edu	37	19	39600743	39600743	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39600743G>A	uc002oki.3	+	12	1576	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	PAPL_uc010egl.3_3'UTR	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	434						extracellular region	acid phosphatase activity|metal ion binding										TGTTTGGCCGGAGGATGTACC	0.567000											OREG0025457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			36		0	0	0.002836	0	0
GALP	85569	broad.mit.edu	37	19	56688529	56688529	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56688529C>T	uc002qmo.1	+	1	134	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	GALP_uc010eti.2_Silent_p.L18L	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	18					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTTGCTGAGCCTGGCAGAGAC	0.622000														29			7		0	0	0.004482	0	0
GTF2I	2969	broad.mit.edu	37	7	74146864	74146864	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:74146864C>G	uc003uau.3	+	14	1535	c.1165C>G	c.(1165-1167)Ctt>Gtt	p.L389V	GTF2I_uc003uav.3_Missense_Mutation_p.L368V|GTF2I_uc003uaw.3_Missense_Mutation_p.L369V|GTF2I_uc003uay.3_Missense_Mutation_p.L367V|GTF2I_uc003uax.3_Missense_Mutation_p.L348V	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	389					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CCCGTACCCTCTTTTCCAGTC	0.403000														62			79		0	0	0.003610	0	0
ZP4	57829	broad.mit.edu	37	1	238049117	238049117	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:238049117G>A	uc001hym.3	-	6	1196	c.909C>T	c.(907-909)ctC>ctT	p.L303L	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	303	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTGGTGGGAGAGTGAAAA	0.502000														64			15		0	0	0.004007	0	0
CR2	1380	broad.mit.edu	37	1	207644363	207644363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207644363G>A	uc001hfw.3	+	7	1543	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CR2_uc001hfv.3_Missense_Mutation_p.G475E|CR2_uc009xch.3_Missense_Mutation_p.G475E|CR2_uc009xci.1_5'UTR	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	475	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGCTACAGGAAGGCAACTC	0.428000														77			54		0	0	0.003610	0	0
USP29	57663	broad.mit.edu	37	19	57641478	57641478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57641478G>A	uc002qny.3	+	3	1791	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	USP29_uc021vci.1_Missense_Mutation_p.E479K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	479					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTCTTTAAAGAAGAAGAGCT	0.373000														53			40		0	0	0.006999	0	0
ADCY9	115	broad.mit.edu	37	16	4027629	4027629	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4027629G>A	uc002cvx.3	-	8	3221	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	894					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACACTGGGAACTGCAAGA	0.617000														13			10		0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13865925	13865925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13865925G>A	uc003jfd.2	-	26	4249	c.4207C>T	c.(4207-4209)Ctt>Ttt	p.L1403F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1403	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1402F(1)		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)					TTTATTTCAAGAAGCTGAGGA	0.328000									Kartagener syndrome					21			42		0	0	0.003214	0	0
USP40	55230	broad.mit.edu	37	2	234402154	234402155	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234402154_234402155GG>AA	uc010zmr.2	-	23	2866_2867	c.2866_2867CC>TT	c.(2866-2868)ccc>TTc	p.P956F	USP40_uc010zms.1_Missense_Mutation_p.P54F|USP40_uc002vuo.1_Missense_Mutation_p.P120F	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	944					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTGTCCTGAGGGACCCTGAAGC	0.495000														19			6		0	0	0.004672	0	0
OR4K5	79317	broad.mit.edu	37	14	20388954	20388955	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20388954_20388955GG>TT	uc010tkw.2	+	0	189_190	c.189_190GG>TT	c.(187-192)ttggga>ttTTga	p.63_64LG>F*		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(2)		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)		ACTTTCTCTTGGGAAACCTTTC	0.431000														564			8		0	0	0.004672	0	0
PSD	5662	broad.mit.edu	37	10	104173805	104173805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104173805G>A	uc001kvg.1	-	4	1801	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	PSD_uc001kvh.1_Missense_Mutation_p.S46L|PSD_uc009xxd.1_Missense_Mutation_p.S425L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	425					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.C424Y(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCCTCCAGCGAGGCGAGGCT	0.652000														19			29		0	0	0.002096	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454035	6454035	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6454035G>T	uc002mex.1	-	6	1002	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.S104Y	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	287					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.S287S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCAGCCAGGGAGCCAGCCAC	0.642000														42			9		5.16669e-11	8.18689e-11	0.000978	1	0
CDCP1	64866	broad.mit.edu	37	3	45134801	45134801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45134801C>T	uc003com.3	-	5	1730	c.1595G>A	c.(1594-1596)gGt>gAt	p.G532D		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	532	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CACCGTCAGACCCTGCCTGGA	0.502000														44			24		0	0	0.006320	0	0
IGSF1	3547	broad.mit.edu	37	X	130412483	130412483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130412483C>T	uc004ewe.4	-	11	2291	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	IGSF1_uc004ewd.3_Missense_Mutation_p.E665K|IGSF1_uc022cdv.1_Missense_Mutation_p.E656K|IGSF1_uc004ewf.2_Missense_Mutation_p.E645K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	665	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACAGCCATCTCCTCCCATGAA	0.637000														56			46		0	0	0.003610	0	0
NFU1	27247	broad.mit.edu	37	2	69650762	69650762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69650762G>A	uc002sfk.3	-	2	460	c.254C>T	c.(253-255)aCc>aTc	p.T85I	NFU1_uc002sfl.3_Intron|NFU1_uc002sfm.3_Intron|NFU1_uc010fdi.3_Intron|NFU1_uc002sfj.3_Missense_Mutation_p.T61I|NFU1_uc002sfn.2_Missense_Mutation_p.T85I	NM_001002755	NP_001002755	Q9UMS0	NFU1_HUMAN	Homo sapiens NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) (NFU1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	85					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AAAATCCATGGTCCTTGTCTC	0.373000														26			7		0	0	0.006214	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192412	132192412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:132192412C>T	uc003vra.4	-	1	1270	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	PLXNA4_uc003vrc.2_Missense_Mutation_p.M347I|PLXNA4_uc003vrb.3_Missense_Mutation_p.M347I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	347	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						CCAGGGATTTCATTTTCCGCT	0.567000														38			58		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50866258	50866258	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50866258T>A	uc002lfe.2	+	14	2956	c.2340T>A	c.(2338-2340)taT>taA	p.Y780*	DCC_uc010xdr.1_Nonsense_Mutation_p.Y628*|DCC_uc010dpf.2_Nonsense_Mutation_p.Y435*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	780	Fibronectin type-III 4.				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)		AGCAGCGATATTATTCCATTG	0.393000														25			10		0	0	0.000978	0	0
THEMIS	387357	broad.mit.edu	37	6	128134340	128134340	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128134340C>T	uc011ebt.2	-	3	1595	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E	THEMIS_uc010kfa.3_Silent_p.E385E|THEMIS_uc021zfa.1_Silent_p.E482E|THEMIS_uc010kfb.3_Silent_p.E447E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	482	CABIT 2.			E -> K (in Ref. 1; BAG53994).	T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAATGTCCTCCTCCAACTGCA	0.493000														10			27		0	0	0.004656	0	0
GRIP1	23426	broad.mit.edu	37	12	66849287	66849287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66849287G>A	uc001stk.3	-	9	1341	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	GRIP1_uc010sta.1_Missense_Mutation_p.S311F|GRIP1_uc001stj.3_Missense_Mutation_p.S149F|GRIP1_uc001stm.3_Missense_Mutation_p.S367F|GRIP1_uc001stl.1_Intron	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	419					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CATGTTCAGGGAACTCAGGCT	0.507000														268			48		0	0	0.003610	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876401	74876401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74876401G>A	uc001xpx.2	-	1	295	c.47C>T	c.(46-48)cCt>cTt	p.P16L		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	16					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GAGATGGGCAGGGCTCCTGGG	0.657000														11			19		0	0	0.001882	0	0
TRIP13	9319	broad.mit.edu	37	5	911963	911963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:911963C>T	uc003jbr.3	+	9	1017	c.872C>T	c.(871-873)tCc>tTc	p.S291F		NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	291					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AACAGGCATTCCAATGTTGTG	0.542000														34			6		0	0	0.003080	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334086	37334086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:37334086C>T	uc003aqa.4	+	13	2453	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	CSF2RB_uc003aqc.4_Missense_Mutation_p.P752S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	746					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGCTTATGTCCTGGGCTGGC	0.637000														97			22		0	0	0.001882	0	0
OR6C2	341416	broad.mit.edu	37	12	55846911	55846911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55846911G>A	uc001sgz.1	+	0	914	c.914G>A	c.(913-915)aGg>aAg	p.R305K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCTATAAAGAGGATTGCATTT	0.388000														90			14		0	0	0.002450	0	0
OR5M1	390168	broad.mit.edu	37	11	56380307	56380307	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56380307C>T	uc001nja.1	-	0	672	c.672G>A	c.(670-672)gcG>gcA	p.A224A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGAAGATCGCTGCAAAAA	0.438000														26			34		0	0	0.002222	0	0
CREB3L3	84699	broad.mit.edu	37	19	4153747	4153747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4153747G>A	uc002lzl.3	+	0	119	c.3G>A	c.(1-3)atG>atA	p.M1I	CREB3L3_uc002lzm.3_5'UTR|CREB3L3_uc010xib.2_5'UTR|CREB3L3_uc010xic.2_5'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	1					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGACCCATGAATACGGATT	0.622000														5			15		0	0	0.006122	0	0
CD96	10225	broad.mit.edu	37	3	111297971	111297971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:111297971G>A	uc003dxw.3	+	4	859	c.689G>A	c.(688-690)aGa>aAa	p.R230K	CD96_uc003dxv.3_Missense_Mutation_p.R214K|CD96_uc003dxx.3_Missense_Mutation_p.R214K|CD96_uc010hpy.1_Missense_Mutation_p.R214K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	230	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACAGACTACAGACTCCACCTC	0.453000									Opitz Trigonocephaly syndrome					30			41		0	0	0.007835	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433242	4433242	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4433242C>T	uc002mal.3	+	12	2479	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	793	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCATCCCCTCTAAGTCCC	0.647000								Chromatin Structure						55			30		0	0	0.001786	0	0
PPEF1	5475	broad.mit.edu	37	X	18822164	18822164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:18822164C>T	uc004cyq.3	+	13	1701	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	PPEF1_uc004cyp.3_Missense_Mutation_p.P379L|PPEF1_uc004cyr.3_Intron|PPEF1_uc004cys.3_Missense_Mutation_p.P407L|PPEF1_uc011mja.2_Missense_Mutation_p.P342L|PPEF1_uc011mjb.2_Missense_Mutation_p.P351L	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	407	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAATGTAAGCCCGAAGGGTAT	0.433000														19			20		0	0	0.001882	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793363	65793363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65793363G>A	uc001ogt.3	-	0	626	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	163	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACGCCAGAGGAATAGTGGGA	0.572000														30			10		0	0	0.001368	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814880	54814880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:54814880G>A	uc002lgm.3	+	0	588	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		AGGGAGGTCAGAAGCTGGAGT	0.483000														33			11		0	0	0.001368	0	0
MMD2	221938	broad.mit.edu	37	7	4949534	4949534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4949534G>A	uc003sno.4	-	5	783	c.587C>T	c.(586-588)cCc>cTc	p.P196L	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Missense_Mutation_p.P172L|MMD2_uc010ksq.3_Missense_Mutation_p.P172L	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	196						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GACCAGGGCGGGGAAGAAGCC	0.567000														16			14		0	0	0.002450	0	0
RSPO1	284654	broad.mit.edu	37	1	38078580	38078580	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:38078580C>T	uc001cbl.2	-	7	1531	c.639G>A	c.(637-639)agG>agA	p.R213R	RSPO1_uc009vvf.2_Silent_p.R186R|RSPO1_uc001cbm.2_Silent_p.R213R|RSPO1_uc009vvg.2_Silent_p.R150R	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	213					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCTCCCTTCCTCCTCTTCT	0.617000														21			13		0	0	0.003163	0	0
LAD1	3898	broad.mit.edu	37	1	201356245	201356245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201356245C>T	uc001gwm.3	-	2	479	c.244G>A	c.(244-246)Gac>Aac	p.D82N	LAD1_uc009wzu.1_Missense_Mutation_p.D104N	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	82						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ATGTCCTCGTCCTCATCTTTG	0.612000														28			53		0	0	0.003610	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505596	39505596	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:39505596C>A	uc002rro.3	-	23	1837	c.1746G>T	c.(1744-1746)ggG>ggT	p.G582G	MAP4K3_uc002rrp.3_Silent_p.G561G|MAP4K3_uc010yns.2_Silent_p.G135G	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	582	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GGGTATAAATCCCTTCTTCGG	0.254000														37			10		1.08611e-07	1.71623e-07	0.000978	1	0
BCL9L	283149	broad.mit.edu	37	11	118769743	118769744	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:118769743_118769744GG>AA	uc001pug.3	-	7	4845_4846	c.3880_3881CC>TT	c.(3880-3882)cca>TTa	p.P1294L	BCL9L_uc009zal.3_Missense_Mutation_p.P1289L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1294	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)		CACACCCGGTGGGTATGCGTCG	0.688000														2			7		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23893175	23893175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23893175C>T	uc001wjx.3	-	22	2969	c.2863G>A	c.(2863-2865)Gat>Aat	p.D955N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	955					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)		TCCAGATCATCGATGTCCCTT	0.542000														139			6		0	0	0.001168	0	0
HOXC6	3223	broad.mit.edu	37	12	54423488	54423488	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:54423488G>A	uc001sev.3	+	1	562	c.450G>A	c.(448-450)cgG>cgA	p.R150R	HOXC6_uc001ses.3_Silent_p.R68R|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	150					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTACTCGCGGTACCAGACCC	0.597000														11			26		0	0	0.005443	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621884	65621884	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65621884G>A	uc002aos.2	-	12	2301	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	IGDCC3_uc002aor.1_5'UTR	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	683										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTGGCTCCGGGGACCCTGTG	0.597000														81			18		0	0	0.007413	0	0
AK8	158067	broad.mit.edu	37	9	135702305	135702305	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:135702305G>A	uc004cbu.1	-	7	1249	c.693C>T	c.(691-693)ccC>ccT	p.P231P	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.P27P	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	231						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGGGTAGGAGGGAATGACCC	0.537000														116			42		0	0	0.003214	0	0
THEMIS	387357	broad.mit.edu	37	6	128134948	128134948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128134948C>T	uc011ebt.2	-	3	987	c.838G>A	c.(838-840)Gag>Aag	p.E280K	THEMIS_uc010kfa.3_Missense_Mutation_p.E183K|THEMIS_uc021zfa.1_Missense_Mutation_p.E280K|THEMIS_uc010kfb.3_Missense_Mutation_p.E245K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	280	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGGGAACTCTTTACTAGTC	0.408000														19			69		0	0	0.003610	0	0
NPY5R	4889	broad.mit.edu	37	4	164271932	164271932	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164271932C>T	uc003iqn.3	+	3	689	c.507C>T	c.(505-507)gcC>gcT	p.A169A	NPY5R_uc021xtw.1_Silent_p.A169A	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	169					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)				TAGGTTTTGCCATCTGTTCTC	0.408000														148			46		0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10468596	10468596	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:10468596C>T	uc003wtc.3	-	3	3241	c.3012G>A	c.(3010-3012)ggG>ggA	p.G1004G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1004					intracellular signal transduction			p.G1004V(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCTGGCTCCCCCAGGCCTT	0.662000														9			12		0	0	0.000978	0	0
TGM1	7051	broad.mit.edu	37	14	24731294	24731294	+	Missense_Mutation	SNP	G	A	A	rs146189995		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24731294G>A	uc001wod.3	-	1	389	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	89	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GATACAGGCCGGCGGGAGTCT	0.632000														86			20		0	0	0.001216	0	0
CTDSP2	10106	broad.mit.edu	37	12	58217423	58217423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58217423C>T	uc001sqm.3	-	7	1307	c.778G>A	c.(778-780)Gac>Aac	p.D260N	CTDSP2_uc010ssg.2_Missense_Mutation_p.D134N|CTDSP2_uc009zqf.3_Missense_Mutation_p.D108N|CTDSP2_uc009zqg.3_Missense_Mutation_p.D87N	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	260					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GTGTAGACGTCCTCTGCTCCG	0.597000														16			86		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9080501C>T	uc002mkp.3	-	1	9734	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(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						CGTGGAATTTCCTTGTGCTGC	0.498000														85			38		0	0	0.003610	0	0
POFUT1	23509	broad.mit.edu	37	20	30804422	30804422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30804422C>T	uc002wxp.3	+	3	489	c.440C>T	c.(439-441)cCc>cTc	p.P147L	POFUT1_uc002wxo.3_Missense_Mutation_p.P147L|POFUT1_uc010ztt.2_Missense_Mutation_p.P39L|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	147					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGGAAACCCCTTTGGCCCA	0.522000														98			21		0	0	0.004656	0	0
GRIA3	2892	broad.mit.edu	37	X	122551351	122551351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:122551351G>A	uc004etq.4	+	10	1891	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	GRIA3_uc004etr.4_Missense_Mutation_p.M533I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.M517I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	533					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTCCATCATGATAAAGAAGC	0.423000														74			71		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100677939	100677939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100677939C>T	uc003uxp.1	+	2	3295	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1081	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGCCAGTTCATCTTCTACA	0.512000														603			233		0	0	0.003610	0	0
OPLAH	26873	broad.mit.edu	37	8	145112553	145112553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145112553G>A	uc003zar.3	-	9	1302	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_3'UTR	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	407							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AAAAATGCAGGGGAAGGAGGC	0.637000														16			9		0	0	0.006214	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370118	86370118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:86370118G>A	uc001vll.1	-	1	985	c.526C>T	c.(526-528)Cct>Tct	p.P176S	SLITRK6_uc021rla.1_Missense_Mutation_p.P176S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	176						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGTTTGGAGGAAGACTCTCA	0.373000														49			19		0	0	0.001216	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953801	161953801	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161953801C>T	uc010pkq.2	-	7	2344	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	OLFML2B_uc001gbt.3_Silent_p.E122E|OLFML2B_uc001gbu.3_Silent_p.E639E	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	639	Olfactomedin-like.							p.G640G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCTGAAGCCCTCATCGTCCA	0.617000														39			15		0	0	0.004007	0	0
KCNE1	3753	broad.mit.edu	37	21	35821771	35821771	+	Silent	SNP	G	A	A	rs17173508		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:35821771G>A	uc021wit.1	-	0	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KCNE1_uc010gmp.3_Silent_p.F54F|KCNE1_uc002ytz.3_Silent_p.F54F|KCNE1_uc010gmq.3_Silent_p.F54F|KCNE1_uc010gmr.3_Silent_p.F54F|KCNE1_uc010gms.3_Silent_p.F54F|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	54					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGAAGAAGCCGAAGAATCCCA	0.607000														187			107		0	0	0.003610	0	0
RASGRP1	10125	broad.mit.edu	37	15	38782889	38782889	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38782889C>T	uc001zke.4	-	17	2438	c.2260_splice	c.e17-1	p.E754_splice	RASGRP1_uc010bbe.3_Splice_Site|RASGRP1_uc010bbf.3_Splice_Site_p.G452_splice|RASGRP1_uc010bbg.3_Splice_Site_p.G401_splice|RASGRP1_uc001zkd.4_Splice_Site_p.E719_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	754	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTATTTATTTCCTAAAGGGAA	0.343000														56			10		0	0	0.000673	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248039313G>A	uc001ido.3	+	5	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	328	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCCTGAGCGATTTGACACA	0.602000														23			33		0	0	0.002445	0	0
KRT2	3849	broad.mit.edu	37	12	53045694	53045694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53045694C>T	uc001sat.3	-	0	266	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	78	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		accacctcctccagccacACT	0.632000														37			11		0	0	0.000673	0	0
RFWD2	64326	broad.mit.edu	37	1	175958589	175958589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175958589G>A	uc001gku.1	-	15	2012	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RFWD2_uc001gkv.1_Missense_Mutation_p.R562C|RFWD2_uc001gkw.1_Missense_Mutation_p.R346C|RFWD2_uc009wwv.2_Missense_Mutation_p.R385C|RFWD2_uc001gkt.1_Missense_Mutation_p.R425C	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	586					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGTGTTACGAAGATCATAG	0.348000														55			9		0	0	0.004482	0	0
N4BP3	23138	broad.mit.edu	37	5	177546597	177546597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:177546597C>T	uc003mik.1	+	1	260	c.13C>T	c.(13-15)Cca>Tca	p.P5S	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	5						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGCCACAGCCCCAGGCCCTGC	0.642000														17			44		0	0	0.003610	0	0
PRKCE	5581	broad.mit.edu	37	2	46411915	46411916	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46411915_46411916CC>GT	uc002rut.3	+	14	2306_2307	c.2109_2110CC>GT	c.(2107-2112)acccgg>acGTgg	p.R704W		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	704	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AAGACTTTACCCGGGAAGAGCC	0.490000														56			23		0	0	0.004672	0	0
PDE4A	5141	broad.mit.edu	37	19	10578042	10578042	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10578042C>T	uc002moj.2	+	14	2514	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	PDE4A_uc021uow.1_Silent_p.F780F|PDE4A_uc002mok.2_Silent_p.F776F|PDE4A_uc002mol.2_Silent_p.F741F|PDE4A_uc002mom.2_Silent_p.F563F|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	802					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GGGAGGAATTCGTGGTTGCTG	0.622000														48			52		0	0	0.003610	0	0
DICER1	23405	broad.mit.edu	37	14	95572535	95572535	+	Nonsense_Mutation	SNP	G	A	A	rs137852978		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:95572535G>A	uc001ydw.2	-	18	3042	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_Nonsense_Mutation_p.R944*|DICER1_uc001ydv.2_Nonsense_Mutation_p.R934*|DICER1_uc001ydx.2_Nonsense_Mutation_p.R944*|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_Nonsense_Mutation_p.R226*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	944	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATAAAATCGATGAGGCTGA	0.303000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					25			15		0	0	0.003163	0	0
SYTL1	84958	broad.mit.edu	37	1	27677430	27677430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:27677430C>T	uc001bnw.2	+	10	1348	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SYTL1_uc001bnv.2_Missense_Mutation_p.P372L|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.2_Missense_Mutation_p.P384L	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	384					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGCTCCCCCTGCAGCCC	0.687000														20			14		0	0	0.003163	0	0
FAM179A	165186	broad.mit.edu	37	2	29221030	29221030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29221030C>T	uc010ezl.3	+	2	401	c.50C>T	c.(49-51)gCc>gTc	p.A17V	FAM179A_uc010ymm.2_Missense_Mutation_p.A17V	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	17							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCCCCGTGGCCGTGTACTGC	0.632000														6			8		0	0	0.003080	0	0
BRD1	23774	broad.mit.edu	37	22	50171394	50171394	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:50171394G>A	uc011arg.2	-	8	2693	c.2679C>T	c.(2677-2679)gcC>gcT	p.A893A	BRD1_uc011arf.2_Silent_p.A570A|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.A844A|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.A975A	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	844					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTCGGGGTGTGGCCTTCCTCC	0.711000														23			4		0	0	0.000248	0	0
FXYD3	5349	broad.mit.edu	37	19	35614187	35614187	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35614187G>T	uc010xsm.2	+	9	670	c.393G>T	c.(391-393)ggG>ggT	p.G131G	FXYD3_uc010xsn.2_Silent_p.G74G|FXYD3_uc002nxw.3_Silent_p.G100G|FXYD3_uc002nxv.3_Silent_p.G74G|FXYD3_uc010xso.2_Silent_p.G100G	NM_001136007	NP_005962	Q14802	FXYD3_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 3, mRNA.	74						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCATCCAGGGGAGACTCCAC	0.562000														25			15		3.41278e-10	5.40364e-10	0.004990	1	0
ASH2L	9070	broad.mit.edu	37	8	37967969	37967969	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:37967969C>T	uc003xkt.4	+	3	532	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ASH2L_uc011lbk.2_Silent_p.F19F|ASH2L_uc003xku.4_Silent_p.F64F|ASH2L_uc010lwa.3_Silent_p.F64F	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	158					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATACCTATTTCCTCCGGAAGC	0.428000														7			31		0	0	0.002836	0	0
ZNF609	23060	broad.mit.edu	37	15	64967899	64967899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:64967899C>T	uc002ann.3	+	3	2846	c.2846C>T	c.(2845-2847)cCc>cTc	p.P949L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	949						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAAAGAAGCCCGAGCTGAGC	0.527000														68			72		0	0	0.003610	0	0
URGCP	55665	broad.mit.edu	37	7	43917086	43917086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43917086G>A	uc003tiw.3	-	5	2033	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P616L|URGCP_uc003tiv.3_Missense_Mutation_p.P584L|URGCP_uc003tix.3_Missense_Mutation_p.P650L|URGCP_uc003tiy.3_Missense_Mutation_p.P616L|URGCP_uc003tiz.3_Missense_Mutation_p.P616L|URGCP_uc011kbj.2_Missense_Mutation_p.P616L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	659					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGCTCCAGAGGCAGCCCTGT	0.652000														12			41		0	0	0.006999	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202306	140202306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140202306G>A	uc003lhl.2	+	0	946	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	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_uc003lhk.1_Missense_Mutation_p.E316K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E316K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTCATATGAAATTAATAT	0.323000														31			6		0	0	0.001168	0	0
F2RL1	2150	broad.mit.edu	37	5	76128740	76128740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:76128740G>A	uc003keo.3	+	1	483	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	103					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTTCTTTTCCGAACTAAGAAG	0.478000														233			450		0	0	0.003610	0	0
BMP10	27302	broad.mit.edu	37	2	69093648	69093648	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69093648G>A	uc002sez.1	-	1	549	c.390C>T	c.(388-390)ttC>ttT	p.F130F		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	130					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453000														23			26		0	0	0.007291	0	0
GCKR	2646	broad.mit.edu	37	2	27741759	27741759	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27741759G>A	uc002rky.3	+	16	1593	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	GCKR_uc010ezd.3_Silent_p.R507R|GCKR_uc010ylu.2_Silent_p.R319R	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	509					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGACCTTCGGATTAGCAACT	0.542000														68			32		0	0	0.003755	0	0
FAM105A	54491	broad.mit.edu	37	5	14601342	14601342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:14601342G>A	uc003jfj.3	+	2	358	c.245G>A	c.(244-246)aGa>aAa	p.R82K		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	82										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TATCTGCAGAGAAAATTCAAA	0.299000														48			6		0	0	0.003080	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424916	76424916	+	Silent	SNP	T	C	C	rs71714726		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:76424916T>C	uc001sxu.3	-	0	641	c.606A>G	c.(604-606)caA>caG	p.Q202Q	PHLDA1_uc021rax.1_Silent_p.Q202Q	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	202	PH.|Poly-Gln.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.Q201Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CGGgctgttgttgctgctgct	0.647000														45			22		0	0	0.001523	0	0
ZNF708	7562	broad.mit.edu	37	19	21477443	21477443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:21477443G>A	uc002npq.1	-	3	523	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	ZNF708_uc002npr.1_Nonsense_Mutation_p.Q45*|ZNF708_uc010ecs.1_Nonsense_Mutation_p.Q45*	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CAGCCTTTCTGATATCCACAT	0.398000														69			27		0	0	0.002445	0	0
PCNT	5116	broad.mit.edu	37	21	47754535	47754535	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47754535C>T	uc002zji.4	+	2	599	c.492C>T	c.(490-492)caC>caT	p.H164H	PCNT_uc002zjj.3_Silent_p.H46H|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	164					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCAGTGACCACCCACCAGAAC	0.552000														53			10		0	0	0.006214	0	0
VPS13D	55187	broad.mit.edu	37	1	12336956	12336956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12336956C>T	uc001atv.3	+	18	3452	c.3311C>T	c.(3310-3312)tCc>tTc	p.S1104F	VPS13D_uc001atw.3_Missense_Mutation_p.S1104F|VPS13D_uc001atx.3_Missense_Mutation_p.S292F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1104					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGGTGATTTCCCTACAGGTG	0.363000														37			13		0	0	0.002450	0	0
PCNX	22990	broad.mit.edu	37	14	71543007	71543007	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71543007C>T	uc001xmo.2	+	27	5654	c.5208C>T	c.(5206-5208)gtC>gtT	p.V1736V	PCNX_uc010are.1_Silent_p.V1625V|PCNX_uc010arf.1_Silent_p.V524V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1736						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAATTATGTCGATGTGGACC	0.448000														21			28		0	0	0.007291	0	0
PHF21B	112885	broad.mit.edu	37	22	45312464	45312465	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:45312464_45312465CC>TT	uc003bfn.3	-	3	410_411	c.259_260GG>AA	c.(259-261)ggc>AAc	p.G87N	PHF21B_uc011aqk.2_Missense_Mutation_p.G75N|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.G87N|PHF21B_uc011aqm.1_Missense_Mutation_p.G75N	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	87							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)		CCGGTCCCGGCCCGGGGCAACG	0.634000														25			60		0	0	0.004672	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366040	64366040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64366040G>A	uc001oam.1	+	4	1630	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	SLC22A12_uc009ypr.1_Missense_Mutation_p.G320S|SLC22A12_uc001oal.1_Missense_Mutation_p.G74S|SLC22A12_uc009yps.1_Missense_Mutation_p.G261S|SLC22A12_uc001oan.1_Missense_Mutation_p.G187S|SLC22A12_uc009ypt.3_Missense_Mutation_p.G113S	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	295					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCTGGATTGGGGCCTGCAGGA	0.657000														5			5		0	0	0.001168	0	0
SNX19	399979	broad.mit.edu	37	11	130785480	130785480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:130785480G>A	uc001qgk.4	-	0	903	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R119C|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	119	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTCACGGAACGGTACCAAGAT	0.542000														6			14		0	0	0.002450	0	0
MYO9A	4649	broad.mit.edu	37	15	72338351	72338351	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72338351A>C	uc002atl.4	-	1	1027	c.554T>G	c.(553-555)gTt>gGt	p.V185G	MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Missense_Mutation_p.V185G|MYO9A_uc002atn.1_Missense_Mutation_p.V185G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	185	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGTTAATAACTATTAGAAT	0.333000														52			14		0	0	0.002450	0	0
FRY	10129	broad.mit.edu	37	13	32841341	32841341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32841341C>T	uc001utx.3	+	54	8477	c.7981C>T	c.(7981-7983)Ccc>Tcc	p.P2661S	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.P186S|FRY_uc010tdx.2_Missense_Mutation_p.P31S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCCCCCTCCCTCGCCCTT	0.527000														53			27		0	0	0.001512	0	0
WWTR1	25937	broad.mit.edu	37	3	149375082	149375082	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:149375082G>A	uc003exf.3	-	1	352	c.12C>T	c.(10-12)gcC>gcT	p.A4A	WWTR1_uc003exe.3_Silent_p.A4A|WWTR1_uc021xfm.1_Silent_p.A4A|WWTR1_uc003exh.3_Silent_p.A4A|AK309441_uc010hvg.1_Non-coding_Transcript|WWTR1-AS1_uc003exi.2_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	4					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGGGCGCCGAGGCCGGATTCA	0.562000			T	CAMTA1	epitheliod hemangioendothelioma									13			18		0	0	0.007413	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760717	119760717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:119760717G>A	uc022cdo.1	-	0	305	c.305C>T	c.(304-306)tCt>tTt	p.S102F	C1GALT1C1_uc004esy.3_Missense_Mutation_p.S102F|C1GALT1C1_uc004esz.3_Missense_Mutation_p.S102F	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	102						integral to membrane		p.S102F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AACATTTTCAGAACTGAAGAA	0.363000														7			47		0	0	0.002852	0	0
TTN	7273	broad.mit.edu	37	2	179452781	179452781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179452781C>T	uc021vsy.1	-	253	55874	c.55649G>A	c.(55648-55650)cGg>cAg	p.R18550Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12245Q|TTN_uc021vta.1_Missense_Mutation_p.R12178Q|TTN_uc021vtb.1_Missense_Mutation_p.R12053Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19477	Fibronectin type-III 34.						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)			AGCATTACACCGTTTCCAGCC	0.463000														28			13		0	0	0.001855	0	0
PSMA5	5686	broad.mit.edu	37	1	109968936	109968936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109968936G>A	uc001dxn.3	-	0	135	c.17C>T	c.(16-18)tCt>tTt	p.S6F	PSMA5_uc010ovj.2_5'UTR|PSMA5_uc021ord.1_Intron|PSMA5_uc021ore.1_Intron|FW340027_uc021orf.1_5'Flank	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	6					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GTCGTACTCAGACCGGGTAAG	0.662000														102			63		0	0	0.003610	0	0
ZNF681	148213	broad.mit.edu	37	19	23926753	23926753	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:23926753G>A	uc002nrk.4	-	3	1741	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	ZNF681_uc002nrl.4_Silent_p.P464P|ZNF681_uc002nrj.4_Silent_p.P464P	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACATGTGTAGGGTTTCTCTC	0.378000														41			10		0	0	0.000978	0	0
NEXN	91624	broad.mit.edu	37	1	78383812	78383812	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:78383812A>G	uc001dic.4	+	4	598	c.301A>G	c.(301-303)Act>Gct	p.T101A	NEXN_uc001dia.3_Missense_Mutation_p.T101A|NEXN_uc009wcb.1_Missense_Mutation_p.T37A|NEXN_uc001dib.4_Missense_Mutation_p.T37A|NEXN_uc001did.1_Missense_Mutation_p.T25A|NEXN_uc001dif.1_5'UTR	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	101	Glu-rich.			YVPKLTGT -> NLPFTVP (in Ref. 3; AAD29607).	regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTTTTAGGAACTGTGAAGGG	0.338000														24			18		0	0	0.007413	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31774132G>A	uc001wrf.4	-	31	5403	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_uc010ami.3_Missense_Mutation_p.P1345S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1734							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACACTGCAGGAAGTTCGGAA	0.418000														52			14		0	0	0.003163	0	0
PRG4	10216	broad.mit.edu	37	1	186269233	186269233	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:186269233C>T	uc001gru.4	+	2	138	c.87C>T	c.(85-87)agC>agT	p.S29S	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Intron|PRG4_uc009wyl.3_Silent_p.S29S|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	29	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATTTATCAAGCTGTGCAGGGA	0.438000														37			67		0	0	0.003610	0	0
ZNF599	148103	broad.mit.edu	37	19	35250816	35250816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35250816G>A	uc010edn.1	-	3	1278	c.890C>T	c.(889-891)tCt>tTt	p.S297F	ZNF599_uc010edm.2_Missense_Mutation_p.S260F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGGATAAAAGAAGAGCGGTG	0.438000														44			53		0	0	0.003610	0	0
UFL1	23376	broad.mit.edu	37	6	97001327	97001327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:97001327C>T	uc003por.3	+	18	2381	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	778					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										CTTTCTTCATCCATTAAAGAC	0.363000														16			8		0	0	0.000978	0	0
UROC1	131669	broad.mit.edu	37	3	126220104	126220104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126220104C>T	uc010hsi.2	-	10	1156	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	UROC1_uc003eiz.2_Missense_Mutation_p.E308K	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	308					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGAGCACCTCCTTTTTTTTC	0.587000														73			94		0	0	0.003610	0	0
ALK	238	broad.mit.edu	37	2	29917858	29917858	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29917858G>A	uc002rmy.3	-	2	1762	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	270	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTCACAGGGGAAGTCAAAGC	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					65			21		0	0	0.002299	0	0
FRS2	10818	broad.mit.edu	37	12	69965190	69965190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69965190C>T	uc001suy.3	+	7	898	c.388C>T	c.(388-390)Cct>Tct	p.P130S	FRS2_uc001suz.3_Missense_Mutation_p.P130S|FRS2_uc009zrj.3_Missense_Mutation_p.P130S|FRS2_uc009zrk.3_Missense_Mutation_p.P130S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	130					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATTGGAAGTCCCTAGAACACC	0.343000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			8		0	0	0.003080	0	0
KCNA6	3742	broad.mit.edu	37	12	4920712	4920712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920712C>T	uc001qng.3	+	0	2371	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	KCNA6_uc021qtr.1_Missense_Mutation_p.P502L	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	502						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						CCTGACTTCCCCGAGGCTAAC	0.607000										HNSCC(72;0.22)				15			28		0	0	0.001512	0	0
FCGBP	8857	broad.mit.edu	37	19	40424184	40424184	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40424184G>A	uc002omp.4	-	3	2027	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	673	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCATGCCACAGAGTCGGTCGC	0.612000														152			47		0	0	0.003610	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687364	5687364	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5687364G>A	uc002mcp.3	+	4	630	c.78G>A	c.(76-78)ctG>ctA	p.L26L	HSD11B1L_uc002mck.3_Silent_p.L160L|HSD11B1L_uc002mcu.3_Silent_p.L26L|HSD11B1L_uc002mcn.3_Silent_p.L160L|HSD11B1L_uc002mco.3_Silent_p.L73L|HSD11B1L_uc002mcr.3_Silent_p.L79L|HSD11B1L_uc002mcq.3_Silent_p.L26L|HSD11B1L_uc010dug.3_Silent_p.L207L|HSD11B1L_uc002mct.3_Silent_p.L26L|HSD11B1L_uc002mcl.3_Silent_p.L79L|RPL36_uc002mcv.3_5'Flank|RPL36_uc002mcw.3_5'Flank	NM_198708	NP_941997	Q7Z5J1	DHI1L_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1-like (HSD11B1L), transcript variant d, mRNA.	160						extracellular region	binding|oxidoreductase activity										AGGGCTCCCTGGTGGTGGTGT	0.697000														21			9		0	0	0.000978	0	0
RANBP17	64901	broad.mit.edu	37	5	170667972	170667972	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:170667972G>A	uc003mba.3	+	22	2605	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	RANBP17_uc003mbb.3_Silent_p.Q146Q|RANBP17_uc003mbd.3_Silent_p.Q184Q|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	821					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)			CAAAAGATCAGATTTATCCAA	0.413000			T	TRD@	ALL									158			22		0	0	0.002299	0	0
DIP2C	22982	broad.mit.edu	37	10	436680	436680	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:436680C>T	uc001ifp.3	-	11	1474	c.1384_splice	c.e11+1	p.G462_splice	DIP2C_uc009xhj.1_Splice_Site_p.G158_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	462						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTGGCTTACCTTTAAACTGT	0.537000														14			32		0	0	0.006230	0	0
CLIC1	1192	broad.mit.edu	37	6	31698760	31698761	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31698760_31698761CC>AA	uc003nwr.3	-	5	848_849	c.584_585GG>TT	c.(583-585)cgg>cTT	p.R195L	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	195	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGGTGAATCCCCGGTACTTCTT	0.579000														576			13		0	0	0.004672	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606030	116606030	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:116606030C>T	uc001lcb.3	+	9	1637	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	FAM160B1_uc001lcc.3_Silent_p.I434I	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	434										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGTTTTTTATCCTTGGAGAAC	0.423000														48			58		0	0	0.003610	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16254145G>A	uc003car.4	+	5	1742	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	GALNTL2_uc003caq.4_Missense_Mutation_p.D156N	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	423						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D423Y(4)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CCAAAATCAGGATTCCCATTC	0.537000														40			16		0	0	0.007413	0	0
ZNF569	148266	broad.mit.edu	37	19	37904471	37904471	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37904471G>A	uc002ogj.3	-	8	2093	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	ZNF569_uc002ogh.3_Silent_p.F204F|ZNF569_uc002ogi.3_Silent_p.F363F	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	363					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)			AAAACTGAGAGAAGGCTTTAC	0.383000														59			21		0	0	0.002780	0	0
OR1N2	138882	broad.mit.edu	37	9	125315494	125315494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125315494G>A	uc011lyx.2	+	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACAAGGGATGGGAAAACCAGG	0.448000														51			25		0	0	0.005443	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543368	46543368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:46543368G>A	uc010tfw.1	-	12	3317	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.P1104L|ZC3H13_uc001vat.1_Missense_Mutation_p.P1104L	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1104							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cacagGCGGTGGAGGAGGAAG	0.557000														26			8		0	0	0.003080	0	0
JHDM1D	80853	broad.mit.edu	37	7	139826443	139826443	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:139826443G>A	uc003vvm.3	-	5	886	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	294	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTACCCAGAGGACATGGTACC	0.373000														97			15		0	0	0.007413	0	0
DAB1	1600	broad.mit.edu	37	1	57476456	57476456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:57476456C>T	uc009vzx.1	-	13	1900	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	DAB1_uc001cyt.1_Missense_Mutation_p.G525E|DAB1_uc001cyq.1_Missense_Mutation_p.G525E|DAB1_uc001cyr.1_Missense_Mutation_p.G441E|DAB1_uc009vzw.1_Missense_Mutation_p.G509E|DAB1_uc001cys.1_Missense_Mutation_p.G527E	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	560					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCCTGTGATCCATCAGGCTA	0.438000														41			32		0	0	0.001786	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382018	41382018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41382018G>A	uc003jmm.1	-	1	824	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	241					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S241L(2)|p.S241S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TATAAAAAACGATCCCTTCTT	0.507000														37			54		0	0	0.003610	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079196	15079196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15079196C>T	uc002naa.1	-	2	474	c.467G>A	c.(466-468)gGg>gAg	p.G156E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G156E|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.G156E|SLC1A6_uc002nac.3_Missense_Mutation_p.G156E|SLC1A6_uc002nad.1_Missense_Mutation_p.G156E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	156					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGAGCCCTTCCCGGGATGGAT	0.607000														10			15		0	0	0.004990	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597445	136597445	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136597445C>T	uc003qgx.1	-	4	1471	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	BCLAF1_uc003qgy.1_Silent_p.E404E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.E404E|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	406					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTATAATCCTCTGTCTCCT	0.428000														206			77		0	0	0.003610	0	0
BAI3	577	broad.mit.edu	37	6	69349304	69349304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:69349304C>T	uc010kak.3	+	1	1013	c.737C>T	c.(736-738)gCc>gTc	p.A246V	BAI3_uc003pev.4_Missense_Mutation_p.A246V	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	246					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCAGGGAGGCCAAGCGACCA	0.522000														8			5		0	0	0.001168	0	0
ZNF180	7733	broad.mit.edu	37	19	44981195	44981195	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44981195G>A	uc002ozf.4	-	4	1785	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ZNF180_uc002ozh.4_Silent_p.S158S|ZNF180_uc002ozi.4_Silent_p.S474S|ZNF180_uc002ozg.4_Silent_p.S500S|ZNF180_uc010ejm.3_Silent_p.S476S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383000														43			16		0	0	0.004007	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200811132	200811132	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200811132T>C	uc001gvl.3	+	7	1241	c.971T>C	c.(970-972)tTg>tCg	p.L324S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.L313S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.L313S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	324	CH.					cytoplasm|microtubule	protein binding										AGTAATTATTTGGTGTTCATG	0.338000														68			27		0	0	0.006320	0	0
ETS1	2113	broad.mit.edu	37	11	128426213	128426213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:128426213G>A	uc001qej.2	-	2	272	c.187C>T	c.(187-189)Cct>Tct	p.P63S		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	161	PNT.				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R62*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGACCAGTAGGAACTTCCTGA	0.448000														11			25		0	0	0.007291	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612635	96612635	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96612635C>T	uc010qnz.2	+	8	1437	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	CYP2C19_uc010qny.2_Silent_p.V457V	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	479					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGCTTCTGTCCCGCCCTTCT	0.463000														74			18		0	0	0.001523	0	0
GCKR	2646	broad.mit.edu	37	2	27745389	27745389	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27745389C>T	uc002rky.3	+	17	1701	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	GCKR_uc010ezd.3_Silent_p.P543P|GCKR_uc010ylu.2_Silent_p.P355P	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	545					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCCACTTTCCCCAGCCACTGT	0.542000														88			29		0	0	0.007291	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28543161C>T	uc003nlo.3	-	2	1939	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000														23			53		0	0	0.003610	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950252	96950252	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:96950252G>A	uc002svu.3	-	30	4368	c.4236C>T	c.(4234-4236)acC>acT	p.T1412T	SNRNP200_uc002svt.3_Silent_p.T22T|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1412	Helicase ATP-binding 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCTGTGCTGGTCTCGCCTG	0.557000														45			44		0	0	0.003214	0	0
GRIK2	2898	broad.mit.edu	37	6	102074293	102074294	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:102074293_102074294GG>AA	uc003pqp.4	+	2	615_616	c.322_323GG>AA	c.(322-324)ggg>AAg	p.G108K	GRIK2_uc021zdj.1_Missense_Mutation_p.G108K|GRIK2_uc003pqn.3_Missense_Mutation_p.G108K|GRIK2_uc010kcw.3_Missense_Mutation_p.G108K|GRIK2_uc003pqo.4_Missense_Mutation_p.G108K|GRIK2_uc021zdk.1_Missense_Mutation_p.G108K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	108					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)	TGCCATCTTCGGGCCTTCACAC	0.540000														40			114		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179617902	179617902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179617902C>T	uc021vsy.1	-	44	10534	c.10309G>A	c.(10309-10311)Gaa>Aaa	p.E3437K	TTN_uc021vsz.1_Missense_Mutation_p.E3583K|TTN_uc021vta.1_Missense_Mutation_p.E3516K|TTN_uc021vtb.1_Missense_Mutation_p.E3391K|TTN_uc002umz.1_Missense_Mutation_p.E98K|TTN_uc002unb.2_Missense_Mutation_p.E3437K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4379							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(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)			AAAATTGATTCAGGAGCTAAA	0.264000														16			16		0	0	0.004990	0	0
PDE6C	5146	broad.mit.edu	37	10	95380735	95380735	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:95380735C>T	uc001kiu.4	+	2	859	c.721C>T	c.(721-723)Cag>Tag	p.Q241*		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	241					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCGAAGAAGCCAGGTAAAAGG	0.468000														162			54		0	0	0.003610	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729977	37729977	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:37729977G>A	uc003xkm.2	-	3	2399	c.2343C>T	c.(2341-2343)gtC>gtT	p.V781V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.V110V|RAB11FIP1_uc003xko.1_Silent_p.V110V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	781					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATGGAAGGGACTGATGCTC	0.542000														16			32		0	0	0.004289	0	0
PSG5	5673	broad.mit.edu	37	19	43690509	43690509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43690509C>T	uc002ovu.3	-	0	180	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G17R	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	17					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGCAGGAGCCCCTTCCAGGTG	0.587000														105			28		0	0	0.004878	0	0
OR10T2	128360	broad.mit.edu	37	1	158368976	158368976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158368976G>A	uc010pih.2	-	0	281	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGCCATGAAGGAGATGGTCTT	0.478000														35			13		0	0	0.001855	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319424	71319424	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71319424G>A	uc021tkr.1	-	0	400	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	FTSJD1_uc010cga.3_Nonsense_Mutation_p.Q134*|FTSJD1_uc002ezy.4_Nonsense_Mutation_p.Q134*|FTSJD1_uc002ezz.4_Nonsense_Mutation_p.Q134*	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	134						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCCATTCTGAAAAGCTTCC	0.393000														35			17		0	0	0.004007	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883070	43883070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43883070G>A	uc009xmh.1	-	2	750	c.263C>T	c.(262-264)tCc>tTc	p.S88F	HNRNPF_uc001jar.2_Missense_Mutation_p.S88F|HNRNPF_uc001jas.2_Missense_Mutation_p.S88F|HNRNPF_uc001jat.2_Missense_Mutation_p.S88F|HNRNPF_uc001jav.2_Missense_Mutation_p.S88F|HNRNPF_uc001jau.2_Missense_Mutation_p.S88F|HNRNPF_uc021ppg.1_Missense_Mutation_p.S88F|HNRNPF_uc010qfa.1_3'UTR	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	88					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGTTCTGTGGGACTTGAACAC	0.512000														33			43		0	0	0.002852	0	0
DPYD	1806	broad.mit.edu	37	1	97981487	97981487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97981487C>T	uc001drv.3	-	12	1672	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	512					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AACGGAAGCTCCATATTGTGA	0.363000														12			7		0	0	0.001984	0	0
LCP2	3937	broad.mit.edu	37	5	169677741	169677741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169677741C>T	uc003man.1	-	19	1679	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.G286E|LCP2_uc011det.1_Missense_Mutation_p.G320E	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	491	SH2.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.R490Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TACCTCTTTCCCTCGGAGTCC	0.413000														72			19		0	0	0.001882	0	0
MTR	4548	broad.mit.edu	37	1	237054611	237054611	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237054611C>T	uc001hyi.4	+	28	3609	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F	MTR_uc010pxw.2_Silent_p.F655F|MTR_uc010pxx.2_Silent_p.F1011F|MTR_uc010pxy.2_Silent_p.F916F	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1062	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TAGCCACCTTCTATGGGTTAA	0.527000														30			60		0	0	0.003610	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33399973C>T	uc011dri.2	+	3	526	c.331C>T	c.(331-333)Cca>Tca	p.P111S	SYNGAP1_uc003oeo.1_Missense_Mutation_p.P96S|SYNGAP1_uc010juy.3_Missense_Mutation_p.P96S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	111					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.F111F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637000														57			6		0	0	0.001984	0	0
BCAR1	9564	broad.mit.edu	37	16	75268959	75268959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:75268959G>A	uc002fdv.3	-	4	1984	c.1838C>T	c.(1837-1839)cCg>cTg	p.P613L	BCAR1_uc002fdt.3_Missense_Mutation_p.P66L|BCAR1_uc002fdu.3_Missense_Mutation_p.P403L|BCAR1_uc010vna.2_Missense_Mutation_p.P611L|BCAR1_uc010cgu.3_Missense_Mutation_p.P631L|BCAR1_uc010vnb.2_Missense_Mutation_p.P659L|BCAR1_uc002fdw.3_Missense_Mutation_p.P613L|BCAR1_uc010vnc.2_Missense_Mutation_p.P465L|BCAR1_uc010vnd.2_Missense_Mutation_p.P631L|BCAR1_uc002fdx.3_Missense_Mutation_p.P631L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	613	Ser-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCAGGCCCCGGGGCAGTGGC	0.677000														40			11		0	0	0.000673	0	0
VPS45	11311	broad.mit.edu	37	1	150054811	150054811	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150054811G>A	uc001etp.3	+	9	1521	c.948G>A	c.(946-948)gaG>gaA	p.E316E	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.E280E|VPS45_uc010pbs.2_Silent_p.E211E|VPS45_uc001etq.3_Silent_p.E136E|VPS45_uc009wlm.1_Silent_p.E292E	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	316					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGTTTGTTGAGAATTATCCAC	0.463000														120			29		0	0	0.003271	0	0
LRTM1	57408	broad.mit.edu	37	3	54958747	54958748	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54958747_54958748GA>AT	uc003dhl.3	-	1	636_637	c.502_503TC>AT	c.(502-504)tcc>ATc	p.S168I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	168						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGGCATGGATTCCAGGAGC	0.475000														54			18		0	0	0.004672	0	0
SCN2A	6326	broad.mit.edu	37	2	166201289	166201289	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166201289C>T	uc002udc.3	+	15	3077	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F	SCN2A_uc002udd.3_Silent_p.F929F|SCN2A_uc002ude.3_Silent_p.F929F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	929					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGACTTTTTCCACTCCTTCC	0.507000														64			30		0	0	0.002096	0	0
ZNF598	90850	broad.mit.edu	37	16	2049689	2049689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2049689G>A	uc002cof.1	-	10	1876	c.1861C>T	c.(1861-1863)Cct>Tct	p.P621S	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	621	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTGCTGGCAGGAGCTTCCGGG	0.677000														21			6		0	0	0.003080	0	0
NUB1	51667	broad.mit.edu	37	7	151073881	151073881	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:151073881C>T	uc003wjx.3	+	13	1741	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	NUB1_uc003wjw.3_Silent_p.S537S	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	551	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGCCACGTCCCCTTCTGACT	0.612000														1			10		0	0	0.000673	0	0
SLC34A1	6569	broad.mit.edu	37	5	176821091	176821091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176821091G>A	uc003mgk.4	+	9	1173	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	357					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTGCTGGCAGGATCCCTGGT	0.602000														218			38		0	0	0.002852	0	0
AGAP11	119385	broad.mit.edu	37	10	88769434	88769434	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88769434C>T	uc001kee.2	+	11	2629	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	475					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACATGGCTCCCGTGAGGAGG	0.672000														52			66		0	0	0.003610	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548767	102548767	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102548767G>A	uc001yku.4	-	9	1960	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	HSP90AA1_uc001ykv.4_Silent_p.N712N	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	590					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCACCAATCGGTTTGACACAA	0.388000														3			21		0	0	0.001882	0	0
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180151443C>T	uc001gnz.3	+	5	816	c.741C>T	c.(739-741)tcC>tcT	p.S247S	QSOX1_uc001gny.3_Silent_p.S247S|QSOX1_uc001gob.1_Non-coding_Transcript	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	247					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						GCTCTGTCTCCCGAGTCCCCG	0.602000														57			107		0	0	0.003610	0	0
ODZ1	10178	broad.mit.edu	37	X	123517540	123517540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:123517540G>A	uc010nqy.3	-	29	7305	c.7241C>T	c.(7240-7242)tCc>tTc	p.S2414F	ODZ1_uc011muj.2_Missense_Mutation_p.S2413F|ODZ1_uc004euj.3_Missense_Mutation_p.S2407F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2407					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						ATTTTCAAAGGAGTAGAGGTT	0.373000														35			25		0	0	0.003954	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599185	70599185	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70599185C>T	uc003hen.3	-	5	841	c.543G>A	c.(541-543)tgG>tgA	p.W181*		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTTTTTCTTCCACCAGTTTT	0.323000														63			32		0	0	0.002096	0	0
OR5A1	219982	broad.mit.edu	37	11	59211432	59211432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59211432G>A	uc001nnx.1	+	0	791	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264*(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGTACTTGCGACCCAGCTCC	0.527000														55			90		0	0	0.003610	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063187	17063187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17063187C>T	uc003wxe.3	+	6	897	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	167						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GTTGGATTTTCAAATTATAAG	0.333000														84			58		0	0	0.003610	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767519	143767519	+	Silent	SNP	G	A	A	rs66906173		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:143767519G>A	uc001ejt.3	-	0	363	c.330C>T	c.(328-330)tcC>tcT	p.S110S		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	110	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TGAAAAACTGGGAACCATTTG	0.478000														308			15		0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23928006	23928006	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23928006G>A	uc001uon.2	-	8	2692	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SACS_uc001uoo.2_Silent_p.F554F|SACS_uc001uop.1_Silent_p.F488F|SACS_uc001uoq.1_Silent_p.F554F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	701					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGACTTGGGAAAAGGGACC	0.368000														28			19		0	0	0.002299	0	0
EVPL	2125	broad.mit.edu	37	17	74015058	74015058	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74015058C>T	uc010wss.1	-	10	1449	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	EVPL_uc002jqi.2_Silent_p.Q407Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	407	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTTTCTTCGCTGTGGCAGAG	0.682000														15			7		0	0	0.004482	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550191	4550191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4550191C>T	uc010dud.2	-	11	1477	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	SEMA6B_uc010xih.1_Missense_Mutation_p.M405I	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	405	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCTCGTCCATCAGAGGGT	0.672000														23			27		0	0	0.005443	0	0
LILRA1	11024	broad.mit.edu	37	19	55086387	55086387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55086387C>T	uc010ern.3	+	4	1011	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRA1_uc002qgg.4_Missense_Mutation_p.S181F|LILRA1_uc002qgf.3_Missense_Mutation_p.S181F|LILRA1_uc010yfe.1_Missense_Mutation_p.S181F|LILRA1_uc010yff.1_Missense_Mutation_p.S169F|LILRA1_uc010ero.3_Missense_Mutation_p.S169F|LILRA1_uc010yfg.1_Missense_Mutation_p.S181F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCCGTGGGCCCC	0.567000														91			56		0	0	0.003610	0	0
PLCE1	51196	broad.mit.edu	37	10	96044689	96044689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96044689C>T	uc001kjk.3	+	21	5636	c.5002C>T	c.(5002-5004)Ctt>Ttt	p.L1668F	PLCE1_uc010qnx.2_Missense_Mutation_p.L1652F|PLCE1_uc001kjm.3_Missense_Mutation_p.L1360F|PLCE1_uc001kjp.3_Missense_Mutation_p.L26F|LOC100128054_uc001kjo.2_Intron	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1668					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.L1668F(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTTTCTGACCTTGTAATCTA	0.313000														37			13		0	0	0.002450	0	0
PFKL	5211	broad.mit.edu	37	21	45736130	45736130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45736130C>T	uc002zek.3	+	10	1293	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	PFKL_uc002zel.3_Missense_Mutation_p.R251W			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	251					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GACCCAGACTCGGAGCCGTGG	0.642000														60			18		0	0	0.007413	0	0
CACNG7	59284	broad.mit.edu	37	19	54444867	54444867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54444867G>A	uc002qcr.2	+	3	663	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CACNG7_uc010era.2_Missense_Mutation_p.E190K	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTACTCAAAGAGGTGACGTC	0.552000														88			27		0	0	0.007291	0	0
DAB2	1601	broad.mit.edu	37	5	39377034	39377034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:39377034G>A	uc003jlx.3	-	11	2386	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	DAB2_uc003jlw.3_Missense_Mutation_p.P598S	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	619					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGCTGAGGAGGAGTGACCAGG	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			73		0	0	0.003610	0	0
AGER	177	broad.mit.edu	37	6	32150708	32150708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32150708C>T	uc003oal.2	-	5	701	c.601G>A	c.(601-603)Gat>Aat	p.D201N	AGER_uc021yvm.1_Missense_Mutation_p.D114N|AGER_uc021yvn.1_Missense_Mutation_p.D100N|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Missense_Mutation_p.D9N|AGER_uc021yvq.1_Missense_Mutation_p.D100N|AGER_uc011dpn.2_Missense_Mutation_p.D100N|AGER_uc011dpm.2_Missense_Mutation_p.D100N|AGER_uc003oap.2_Missense_Mutation_p.D217N|AGER_uc021yvr.1_Missense_Mutation_p.D201N|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Missense_Mutation_p.D201N|AGER_uc003oas.2_Missense_Mutation_p.D201N|AGER_uc010jtv.2_Missense_Mutation_p.D201N|AGER_uc003oar.3_Missense_Mutation_p.D100N|AGER_uc003oaq.2_Missense_Mutation_p.D187N|AGER_uc003oat.2_Missense_Mutation_p.D217N|AGER_uc003oan.2_Missense_Mutation_p.D187N|AGER_uc011dpo.2_Missense_Mutation_p.D114N|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_Missense_Mutation_p.D114N|AGER_uc011dpp.2_Missense_Mutation_p.D232N|AGER_uc011dpq.2_Missense_Mutation_p.D248N	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	201	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGACGGGGATCTCCTCCCCGG	0.622000														409			310		0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152191892	152191892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152191892C>T	uc001ezt.1	-	2	2289	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	738					keratinization		calcium ion binding|protein binding	p.R738R(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTCACTCCTAGATGACTG	0.557000														193			51		0	0	0.003610	0	0
OR11L1	391189	broad.mit.edu	37	1	248005013	248005013	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248005013G>A	uc001idn.1	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCTGGAGGAACATGTACA	0.547000														23			8		0	0	0.003080	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163393	32163393	+	RNA	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:32163393A>G	uc002ecx.3	-	1		c.378T>C								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GTGTAAAGCCAATTTCCCTTA	0.458000														21			5		0	0	0.001168	0	0
NCAN	1463	broad.mit.edu	37	19	19356151	19356151	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19356151G>A	uc002nlz.3	+	12	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAACCAGCCGGACAATTTCT	0.572000														40			4		0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152282024	152282024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152282024C>T	uc001ezu.1	-	2	5374	c.5338G>A	c.(5338-5340)Gga>Aga	p.G1780R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1780	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1779N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTGCGTCCATGGGCGGAC	0.602000									Ichthyosis					99			173		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100684356	100684356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100684356G>A	uc003uxp.1	+	2	9712	c.9659G>A	c.(9658-9660)gGa>gAa	p.G3220E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3220	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E3219K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAATGACTCCA	0.493000														424			196		0	0	0.003610	0	0
PCF11	51585	broad.mit.edu	37	11	82880377	82880377	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:82880377C>T	uc001ozx.4	+	7	3345	c.3000C>T	c.(2998-3000)gtC>gtT	p.V1000V	PCF11_uc010rsu.1_Silent_p.V1131V	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1000	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCCCTTTAGTCCAACAAGGAG	0.502000														30			14		0	0	0.004007	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202140	22202140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:22202140G>A	uc003svg.3	-	12	1157	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	132					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTTTGCCTTGATACTTCTTA	0.338000														70			14		0	0	0.001855	0	0
TET3	200424	broad.mit.edu	37	2	74274974	74274975	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74274974_74274975CC>TA	uc002skb.4	+	0	1525_1526	c.1525_1526CC>TA	c.(1525-1527)cca>TAa	p.P509*	TET3_uc010fez.2_Nonsense_Mutation_p.P509*	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	509							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGGCTCATCCACCGGCCCCT	0.644000														8			6		0	0	0.004672	0	0
AK302514	0	broad.mit.edu	37	6	66013355	66013355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:66013355C>T	uc011dxv.2	+	1	1632	c.941C>T	c.(940-942)cCa>cTa	p.P314L	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		GTTGAAGCTCCAGAAACTAAC	0.468000														16			8		0	0	0.001368	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52321203C>T	uc003xqu.4	-	16	3082	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000														10			6		0	0	0.001168	0	0
PRMT7	54496	broad.mit.edu	37	16	68386189	68386189	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68386189C>T	uc002evy.2	+	14	1796	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	PRMT7_uc010vlg.2_Silent_p.S434S|PRMT7_uc002evz.2_Silent_p.S256S|PRMT7_uc010cfd.1_5'UTR	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	484					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TCACTACCAGCCTGCTGCCGT	0.637000														44			15		0	0	0.007413	0	0
KRT28	162605	broad.mit.edu	37	17	38953483	38953483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38953483C>T	uc002hvh.1	-	3	807	c.741G>A	c.(739-741)atG>atA	p.M247I		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	247	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGGCCGCGTTCATCTCCACGT	0.602000														52			40		0	0	0.003610	0	0
FCAR	2204	broad.mit.edu	37	19	55385768	55385768	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55385768T>G	uc002qhr.1	+	0	220	c.23T>G	c.(22-24)cTc>cGc	p.L8R	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.L8R|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_Missense_Mutation_p.L8R|FCAR_uc002qhv.1_Missense_Mutation_p.L8R|FCAR_uc002qhw.1_Missense_Mutation_p.L8R|FCAR_uc002qhx.1_Missense_Mutation_p.L8R|FCAR_uc002qhy.1_Missense_Mutation_p.L8R|FCAR_uc002qhz.1_Missense_Mutation_p.L8R|FCAR_uc002qia.1_Missense_Mutation_p.L8R	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	8					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGACCACCCTCCTGTGTCTT	0.463000														90			21		0	0	0.002299	0	0
FGFR4	2264	broad.mit.edu	37	5	176520541	176520541	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176520541C>T	uc003mfl.3	+	9	1553	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	FGFR4_uc003mfm.3_Silent_p.F462F|FGFR4_uc011dfu.2_Intron|FGFR4_uc003mfo.3_Silent_p.F422F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	462					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)	TATGGGAGTTCCCCCGGGACA	0.687000										TSP Lung(9;0.080)				29			51		0	0	0.003610	0	0
TIMM44	10469	broad.mit.edu	37	19	7997560	7997560	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7997560G>A	uc002miz.3	-	8	1111	c.939C>T	c.(937-939)gaC>gaT	p.D313D	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	313					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCAGAAACCGGTCCTTGTCAA	0.637000														41			17		0	0	0.007413	0	0
ESF1	51575	broad.mit.edu	37	20	13695710	13695710	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13695710G>A	uc002woj.3	-	13	2475	c.2367C>T	c.(2365-2367)atC>atT	p.I789I		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	789	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTCCTCAAGGATTTTTTCCA	0.403000														92			31		0	0	0.001512	0	0
HECW1	23072	broad.mit.edu	37	7	43508575	43508575	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43508575C>T	uc003tid.1	+	15	3575	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	HECW1_uc011kbi.1_Silent_p.V956V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	990					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTCTGAAAGTCCGACGGGATG	0.547000														68			28		0	0	0.006320	0	0
APOBEC1	339	broad.mit.edu	37	12	7802203	7802203	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7802203C>T	uc001qtb.3	-	4	685	c.651G>A	c.(649-651)acG>acA	p.T217T	APOBEC1_uc001qtc.3_Silent_p.T172T	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	217					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GTGGCGGAATCGTTTGGTAAT	0.398000														42			5		0	0	0.000602	0	0
BNC1	646	broad.mit.edu	37	15	83936884	83936884	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:83936884C>T	uc002bjt.1	-	2	287	c.199_splice	c.e2+1	p.A67_splice	BNC1_uc010uos.1_Splice_Site_p.A55_splice	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	67					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						AATAAAGTTACCGTGGGCCAC	0.413000														41			38		0	0	0.002852	0	0
CD1E	913	broad.mit.edu	37	1	158325175	158325175	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158325175C>T	uc001fse.3	+	2	734	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CD1E_uc010pid.2_Silent_p.F145F|CD1E_uc010pie.2_Silent_p.F48F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.F147F|CD1E_uc001fsf.3_Silent_p.F147F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.F48F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.F147F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	147					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.D146Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGTCAGATTTCCTGAGTTTCC	0.468000														101			29		0	0	0.007291	0	0
FEZF1	389549	broad.mit.edu	37	7	121943722	121943722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:121943722G>A	uc003vkd.3	-	0	844	c.770C>T	c.(769-771)cCc>cTc	p.P257L	FEZF1_uc003vkc.3_Missense_Mutation_p.P207L|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	257					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAACTTTGGGCTTGGCATT	0.507000														18			191		0	0	0.003610	0	0
ACTN2	88	broad.mit.edu	37	1	236881274	236881274	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236881274T>C	uc001hyf.2	+	2	445	c.241_splice	c.e2+2	p.G81_splice	ACTN2_uc001hyg.2_Splice_Site|ACTN2_uc009xgi.1_Splice_Site_p.G81_splice	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	81	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCTCAGGTTGGTGTTATA	0.448000														11			21		0	0	0.001216	0	0
AKR1B15	441282	broad.mit.edu	37	7	134252964	134252964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:134252964C>T	uc011kpr.2	+	3	504	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	69							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGCAGAATATCGCCACATTGA	0.438000														88			33		0	0	0.002445	0	0
RGS22	26166	broad.mit.edu	37	8	101076105	101076105	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:101076105C>T	uc003yjb.1	-	7	1086	c.891G>A	c.(889-891)aaG>aaA	p.K297K	RGS22_uc003yja.1_Silent_p.K116K|RGS22_uc003yjc.1_Silent_p.K285K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.K201K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	297					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCCTGTTTCTTTTCAAGGT	0.358000														42			41		0	0	0.007835	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:40980844C>T	uc002xkg.3	-	9	1826	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_uc010ggj.3_Missense_Mutation_p.E548K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000														69			43		0	0	0.002522	0	0
C20orf94	128710	broad.mit.edu	37	20	10604013	10604013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:10604013G>A	uc010zre.2	+	7	1393	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	405							protein binding	p.E405*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						AAAGAAATACGAAAGAGGCCA	0.448000														3			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140362134	140362134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140362134C>T	uc003lii.3	+	2	3304	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	PCDHAC2_uc003lha.2_Missense_Mutation_p.S579F|PCDHAC2_uc003lhb.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lhd.2_Missense_Mutation_p.S841F|PCDHAC2_uc003lhf.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S840F|PCDHAC2_uc003lhi.2_Missense_Mutation_p.S840F|PCDHAC2_uc003lhl.2_Missense_Mutation_p.S829F|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S829F|PCDHAC2_uc003lho.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lhn.2_Missense_Mutation_p.S579F|PCDHAC2_uc003lhq.2_Missense_Mutation_p.S830F|PCDHAC2_uc003lhs.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lhu.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lhw.2_Missense_Mutation_p.S578F|PCDHAC2_uc003lhx.2_Missense_Mutation_p.S841F|PCDHAC2_uc003lia.2_Missense_Mutation_p.S842F|PCDHAC2_uc003lic.2_Missense_Mutation_p.S834F|PCDHAC2_uc003lif.2_Missense_Mutation_p.S843F|PCDHAC2_uc003lie.1_Missense_Mutation_p.S843F|PCDHAC2_uc003lih.2_Missense_Mutation_p.S856F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	900	4 X 4 AA repeats of P-X-X-P.				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)			CCAACAGTATCCAGTGCAACA	0.493000														41			8		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9075687	9075687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9075687G>A	uc002mkp.3	-	2	11963	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3921	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						ACTTGGGGATGAAGTCGTCCC	0.468000														19			5		0	0	0.001168	0	0
TERF2	7014	broad.mit.edu	37	16	69404472	69404472	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69404472G>A	uc002exd.3	-	4	754	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	TERF2_uc002exe.3_Nonsense_Mutation_p.Q252*	NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	210	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GAAAAGTTCTGGATAACAGGA	0.488000														40			18		0	0	0.002299	0	0
FBN3	84467	broad.mit.edu	37	19	8194188	8194188	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8194188C>T	uc002mjf.3	-	15	2123	c.2106G>A	c.(2104-2106)cgG>cgA	p.R702R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	702	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R702R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGCTGCCCCGAAGGTTCT	0.612000														38			13		0	0	0.001855	0	0
CACNA1A	773	broad.mit.edu	37	19	13325129	13325129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13325129C>T	uc002mwy.3	-	39	6094	c.5858G>A	c.(5857-5859)gGg>gAg	p.G1953E	CACNA1A_uc002mwx.3_Missense_Mutation_p.G659E|CACNA1A_uc010dzc.2_Missense_Mutation_p.G1479E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G1956E|CACNA1A_uc021ups.1_Missense_Mutation_p.G1953E|CACNA1A_uc010xne.2_Missense_Mutation_p.G1956E|CACNA1A_uc010dze.2_Missense_Mutation_p.G1953E|CACNA1A_uc021upt.1_Missense_Mutation_p.G1954E|CACNA1A_uc002mwv.3_Missense_Mutation_p.G470E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1954					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAGATCTTCCCCACGGTGAG	0.632000														11			9		0	0	0.000673	0	0
TFE3	7030	broad.mit.edu	37	X	48896849	48896849	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48896849A>C	uc004dmb.3	-	2	555	c.317T>G	c.(316-318)aTg>aGg	p.M106R	TFE3_uc004dmc.3_Missense_Mutation_p.M1R|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	106					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGATGACGACATGGCAGGGGT	0.637000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									2			9		0	0	0.004482	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413575	61413575	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61413575C>T	uc010qig.1	-	4	1658	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	403					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S402S(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACCCTAGGATCCCAGAAAGCA	0.413000														48			13		0	0	0.001855	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250394	1250394	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:1250394C>T	uc002cks.3	+	6	1190	c.942C>T	c.(940-942)ccC>ccT	p.P314P	CACNA1H_uc002ckt.3_Silent_p.P314P	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCGCATGCCCTGCACCCTGG	0.677000														5			4		0	0	0.000602	0	0
POM121	9883	broad.mit.edu	37	7	72413666	72413666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72413666C>T	uc003twk.2	+	10	3134	c.3134C>T	c.(3133-3135)tCg>tTg	p.S1045L	POM121_uc003twj.3_Missense_Mutation_p.S780L|POM121_uc010lam.1_Missense_Mutation_p.S780L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1045	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGGCTTCGGCCTTCGGC	0.647000														127			32		0	0	0.002836	0	0
BMP15	9210	broad.mit.edu	37	X	50659191	50659191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50659191G>A	uc011mnw.2	+	1	812	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	255					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGCATGGAGGAGTTCATGGA	0.463000														5			26		0	0	0.003330	0	0
PHKA1	5255	broad.mit.edu	37	X	71830924	71830924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:71830924C>T	uc004eax.4	-	21	2781	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	PHKA1_uc004eay.4_Missense_Mutation_p.R827Q|PHKA1_uc011mqi.2_Missense_Mutation_p.R768Q	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	827	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGAAATGTATCGGATCAGGCC	0.393000														4			18		0	0	0.001523	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843839	40843839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40843839C>T	uc002iay.3	+	15	2576	c.2360C>T	c.(2359-2361)aCc>aTc	p.T787I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	787	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCCTGGAACACCATTTCCTTC	0.577000														240			190		0	0	0.003610	0	0
GRHL1	29841	broad.mit.edu	37	2	10105480	10105480	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10105480C>T	uc002raa.3	+	7	1251	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.S171S|GRHL1_uc010yjb.2_Silent_p.S209S	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	360					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACGCCATTTCCTTCACATGGG	0.438000														55			23		0	0	0.003954	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299842	145299842	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145299842C>T	uc021oul.1	+	5	926	c.891C>T	c.(889-891)ccC>ccT	p.P297P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.P297P|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	297								p.R296H(3)		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)		AATTGCGCCCCCAGCTGGCAG	0.478000														347			50		0	0	0.003610	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21925999	21925999	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21925999C>T	uc001bev.3	-	18	2037	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E	RAP1GAP_uc001bew.3_Silent_p.E652E|RAP1GAP_uc001bey.3_Silent_p.E614E|RAP1GAP_uc001bex.3_Silent_p.E588E	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	588					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCCTGTGTCCTCTCCGTCCA	0.657000														36			27		0	0	0.002096	0	0
SCAND3	114821	broad.mit.edu	37	6	28542714	28542714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28542714C>T	uc003nlo.3	-	2	2386	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	590					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGGCTTTTTTCAGCCACCTTA	0.363000														18			38		0	0	0.005524	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995510	140995510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140995510C>T	uc004fbt.3	+	3	2644	c.2320C>T	c.(2320-2322)Cct>Tct	p.P774S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P433S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	774							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGTCTCCTCTCCAGAG	0.557000										HNSCC(15;0.026)				20			106		0	0	0.003610	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76972097	76972097	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76972097A>C	uc002jwh.3	-	2	373	c.194T>G	c.(193-195)cTg>cGg	p.L65R	LGALS3BP_uc002jwi.3_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	65	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCGAAGCCCAGGGCCCGGCA	0.647000														16			15		0	0	0.004990	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042758	193042758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:193042758C>T	uc011bsq.2	-	13	1569	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	523					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P522P(1)		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)		ACAGTGGGCTCCATGGCACAG	0.522000														67			36		0	0	0.002836	0	0
TMEM48	55706	broad.mit.edu	37	1	54254856	54254856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:54254856G>A	uc001cvs.3	-	14	1940	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	TMEM48_uc010onu.2_Missense_Mutation_p.S510F|TMEM48_uc001cvt.3_Missense_Mutation_p.S427F|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.S215F	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	550					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCTGAATGGAGGCCTCTGG	0.343000														30			18		0	0	0.002299	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140515442C>T	uc003liq.3	+	0	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438000														64			38		0	0	0.007835	0	0
NFAT5	10725	broad.mit.edu	37	16	69727437	69727437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69727437C>T	uc002exm.2	+	11	3991	c.3655C>T	c.(3655-3657)Cca>Tca	p.P1219S	NFAT5_uc002exj.2_Missense_Mutation_p.P1143S|NFAT5_uc002exk.2_Missense_Mutation_p.P1143S|NFAT5_uc002exl.2_Missense_Mutation_p.P1237S|NFAT5_uc002exn.2_Missense_Mutation_p.P1236S|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.P1143S	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1219					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						GGGCTCCCTTCCACCTAATCC	0.522000														65			17		0	0	0.001523	0	0
SDK2	54549	broad.mit.edu	37	17	71427751	71427751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:71427751G>A	uc010dfm.3	-	10	1370	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	SDK2_uc010dfn.2_Missense_Mutation_p.S136L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	457	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.S457S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGCTGCCCGACTCCAGGGG	0.652000														60			20		0	0	0.001216	0	0
NDNF	79625	broad.mit.edu	37	4	121958055	121958055	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:121958055C>T	uc003idq.1	-	3	1598	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	357										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTGCTCCCTTCCTTTTAACAA	0.433000														42			26		0	0	0.005443	0	0
LCT	3938	broad.mit.edu	37	2	136547308	136547308	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:136547308T>A	uc002tuu.1	-	15	5407	c.5396A>T	c.(5395-5397)gAg>gTg	p.E1799V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1799	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)		TGTGGCCCACTCAAAATTGTC	0.493000														75			33		0	0	0.004878	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612796	228612796	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228612796C>T	uc001hsx.1	-	0	231	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	77					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TCTTAAAGTCCTGAGCGATCT	0.627000														96			37		0	0	0.004878	0	0
PDCL2	132954	broad.mit.edu	37	4	56448404	56448404	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:56448404C>T	uc003hbb.3	-	2	110	c.7_splice	c.e2-1	p.D3_splice		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	3										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCATTGGGATCCTACACAAAA	0.303000														28			11		0	0	0.001855	0	0
C2orf65	130951	broad.mit.edu	37	2	74842118	74842119	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74842118_74842119CC>TT	uc002smy.3	-	2	515_516	c.398_399GG>AA	c.(397-399)agg>aAA	p.R133K	C2orf65_uc010ysa.2_Missense_Mutation_p.R133K|C2orf65_uc002smz.2_Missense_Mutation_p.R133K	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	133					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TCAGAGCTGCCCTTGTGGTCAC	0.490000														53			19		0	0	0.004672	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														19			11		0	0	0.000673	0	0
OAS3	4940	broad.mit.edu	37	12	113384623	113384623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:113384623G>A	uc001tug.3	+	3	799	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	238	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCGCCTGGGAGCAGGGCTG	0.592000														1			16		0	0	0.003163	0	0
OR13C8	138802	broad.mit.edu	37	9	107331863	107331863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107331863G>A	uc011lvo.2	+	0	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K138K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CATGAGCAAGGGTGCCTATGT	0.547000														31			14		0	0	0.002450	0	0
PDIA2	64714	broad.mit.edu	37	16	333322	333322	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:333322C>T	uc002cgn.1	+	5	1261	c.153C>T	c.(151-153)acC>acT	p.T51T	LUC7L_uc021szo.1_Intron|ARHGDIG_uc002cgm.1_3'UTR|PDIA2_uc002cgo.1_Silent_p.T51T|PDIA2_uc010bqt.1_5'UTR	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	51	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCGCCACACCCTGGGCCTGG	0.697000														22			7		0	0	0.004482	0	0
MS4A1	931	broad.mit.edu	37	11	60233401	60233401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60233401G>A	uc009yna.3	+	4	671	c.344G>A	c.(343-345)gGa>gAa	p.G115E	MS4A1_uc009ymz.3_Missense_Mutation_p.G115E|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.G115E|MS4A1_uc001npq.3_Missense_Mutation_p.G115E	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGGTCAAAGGAAAAATGATA	0.338000														29			22		0	0	0.002299	0	0
ECE1	1889	broad.mit.edu	37	1	21560127	21560127	+	Missense_Mutation	SNP	C	T	T	rs66535909		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21560127C>T	uc001bek.2	-	13	1669	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	ECE1_uc001bem.2_Missense_Mutation_p.E516K|ECE1_uc001bej.2_Missense_Mutation_p.E520K|ECE1_uc001bei.2_Missense_Mutation_p.E529K|ECE1_uc010odl.1_Missense_Mutation_p.E532K|ECE1_uc009vqa.1_Missense_Mutation_p.E532K	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	532					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATGGCATTTTCAAAGTAGAGG	0.527000														30			24		0	0	0.003954	0	0
LCT	3938	broad.mit.edu	37	2	136567394	136567394	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:136567394G>A	uc002tuu.1	-	7	2534	c.2523C>T	c.(2521-2523)atC>atT	p.I841I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	841	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)		TCTTTTCTATGATGCTAGTGA	0.493000														131			55		0	0	0.003610	0	0
KCNC3	3748	broad.mit.edu	37	19	50826822	50826822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50826822G>A	uc002pru.1	-	1	1683	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	KCNC3_uc002prt.1_Missense_Mutation_p.A99V	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	463					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AATCATGGTGGCGAAGATGAG	0.607000														31			10		0	0	0.000673	0	0
CPSF6	11052	broad.mit.edu	37	12	69652685	69652685	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69652685T>C	uc001sut.4	+	5	1120	c.1010T>C	c.(1009-1011)cTa>cCa	p.L337P	CPSF6_uc001suu.4_Missense_Mutation_p.L374P|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	337	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCCTTACACTAGCTCCTCCT	0.642000														96			309		0	0	0.003610	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424587	31424588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31424587_31424588CC>TT	uc002wyh.3	+	3	554_555	c.415_416CC>TT	c.(415-417)cct>TTt	p.P139F		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	139	Interaction with MTUS2/TIP150.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TGCAGTGGCTCCTTCCCTTGTT	0.436000														79			38		0	0	0.004672	0	0
BMS1	9790	broad.mit.edu	37	10	43285863	43285863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43285863G>A	uc001jaj.3	+	4	898	c.540G>A	c.(538-540)atG>atA	p.M180I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	180					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAAAATTATGGGAGTTCTCA	0.413000														51			19		0	0	0.003954	0	0
CAGE1	285782	broad.mit.edu	37	6	7373578	7373578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7373578G>A	uc003mxl.2	-	4	2005	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Nonsense_Mutation_p.Q356*|CAGE1_uc003mxj.3_Nonsense_Mutation_p.Q247*|CAGE1_uc003mxk.2_Nonsense_Mutation_p.Q492*	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	492										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TCAAGTTTCTGGAATTCCTCC	0.378000														16			21		0	0	0.001523	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984798	51984798	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51984798C>T	uc002pwv.1	+	3	735	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	245						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGACAATTTCCCCAGACGGCA	0.488000														26			10		0	0	0.000978	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141297807	141297807	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:141297807G>A	uc003yvh.2	-	12	2190	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	TRAPPC9_uc003yvj.2_Silent_p.F627F|TRAPPC9_uc010mel.1_Silent_p.F48F|TRAPPC9_uc003yvi.1_Silent_p.F618F	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	627					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGAGAGACTCGAACTCCACTC	0.577000														36			13		0	0	0.001368	0	0
GK	2710	broad.mit.edu	37	4	166200246	166200246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:166200246C>T	uc003ird.3	-	0	930	c.552G>A	c.(550-552)tgG>tgA	p.W184*	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	184					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTGTCAAACTCCAAATAAGCC	0.418000														19			10		0	0	0.000978	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552028	178552028	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178552028C>T	uc003mjw.3	-	18	3006	c.2904G>A	c.(2902-2904)cgG>cgA	p.R968R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	968	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCTGCAGGCCCGGCGGCTCT	0.687000														63			13		0	0	0.003163	0	0
ZNF761	388561	broad.mit.edu	37	19	53959970	53959970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53959970C>T	uc010eqp.3	+	6	2667	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	ZNF761_uc010ydy.2_Missense_Mutation_p.R683C|ZNF761_uc002qbt.2_Missense_Mutation_p.R683C	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACATGCCATCGTAGACTTCA	0.403000														49			58		0	0	0.003610	0	0
ZNF616	90317	broad.mit.edu	37	19	52618571	52618571	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52618571G>A	uc002pym.3	-	3	2129	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGGAGCCCTGATTAAAGGCT	0.433000														25			8		0	0	0.000978	0	0
RNF186	54546	broad.mit.edu	37	1	20141231	20141231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20141231C>T	uc001bcr.3	-	0	541	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	122						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCAGCCCCTGAGGACAG	0.662000														26			19		0	0	0.001216	0	0
TNXB	7148	broad.mit.edu	37	6	32049952	32049952	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32049952C>T	uc003nzl.2	-	8	3799	c.3597G>A	c.(3595-3597)cgG>cgA	p.R1199R		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1286	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGGGGCCGTCCATCCC	0.562000														474			72		0	0	0.003610	0	0
ETFA	2108	broad.mit.edu	37	15	76578774	76578774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76578774G>A	uc002bbt.2	-	5	581	c.500C>T	c.(499-501)tCt>tTt	p.S167F	ETFA_uc010bkq.1_Missense_Mutation_p.S118F	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TCCACGGACAGAAAACACTTT	0.383000														39			13		0	0	0.003163	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518311	45518311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45518311C>T	uc002zea.3	+	20	3411	c.3242C>T	c.(3241-3243)tCc>tTc	p.S1081F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S792F|TRAPPC10_uc011afa.2_Missense_Mutation_p.S459F|TRAPPC10_uc011afb.1_Missense_Mutation_p.S186F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1081					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCCCTCTGCTCCCTGGAGGTT	0.468000														131			41		0	0	0.003610	0	0
PSD4	23550	broad.mit.edu	37	2	113955447	113955447	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113955447C>T	uc002tjc.3	+	13	2764	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	PSD4_uc002tjd.3_Nonsense_Mutation_p.Q481*|PSD4_uc002tje.3_Nonsense_Mutation_p.Q831*|PSD4_uc002tjf.3_Nonsense_Mutation_p.Q482*|PSD4_uc002tjg.3_Nonsense_Mutation_p.Q27*|PSD4_uc010yxs.2_Nonsense_Mutation_p.Q91*|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	861	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACGTCTTCCAGCTGCGCAC	0.657000														18			6		0	0	0.001984	0	0
CDH18	1016	broad.mit.edu	37	5	19839093	19839093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:19839093C>T	uc003jgd.3	-	2	537	c.3G>A	c.(1-3)atG>atA	p.M1I	CDH18_uc011cnm.2_Missense_Mutation_p.M1I|CDH18_uc003jgc.3_Missense_Mutation_p.M1I|CDH18_uc021xwu.1_Missense_Mutation_p.M1I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	1					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)					TAGTAATTTTCATTGTAAGAT	0.428000														12			32		0	0	0.002836	0	0
NGEF	25791	broad.mit.edu	37	2	233757668	233757668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233757668G>A	uc002vts.2	-	6	1330	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	NGEF_uc010zmm.1_Missense_Mutation_p.S84F|NGEF_uc010fyg.1_Missense_Mutation_p.S269F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	361	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GATGTAGACAGAGAAGTGGTC	0.567000														31			18		0	0	0.001523	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005013	41005013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41005013C>T	uc003jmj.4	-	35	4364	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E847K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1292							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGATTGGTTCCTTCATGAGC	0.493000														30			5		0	0	0.001168	0	0
ADCY8	114	broad.mit.edu	37	8	131826339	131826339	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131826339G>T	uc003ytd.4	-	13	3145	c.2889C>A	c.(2887-2889)ttC>ttA	p.F963L	ADCY8_uc010mds.3_Missense_Mutation_p.F832L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTTCTCTAGGAAATGGCGGG	0.522000										HNSCC(32;0.087)				55			23		3.01185e-09	4.76402e-09	0.003954	1	0
EML3	256364	broad.mit.edu	37	11	62373192	62373192	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62373192G>T	uc010rly.1	-	14	2144	c.1836C>A	c.(1834-1836)ttC>ttA	p.F612L	EML3_uc001ntr.1_Missense_Mutation_p.F584L|EML3_uc001nts.1_Missense_Mutation_p.F584L|EML3_uc001ntt.1_Missense_Mutation_p.F496L|EML3_uc001ntu.1_Missense_Mutation_p.F612L			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	612						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CGCAGGTGAGGAAGCGGTTCT	0.642000														21			12		6.40141e-05	0.000100722	0.000978	1	0
DCC	1630	broad.mit.edu	37	18	50929217	50929217	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50929217C>T	uc002lfe.2	+	18	3505	c.2889C>T	c.(2887-2889)gtC>gtT	p.V963V	DCC_uc010xdr.1_Silent_p.V791V|DCC_uc010dpf.2_Silent_p.V598V	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	963	Fibronectin type-III 6.				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)		CTCGTGCCGTCATTGTGAGTT	0.512000														130			51		0	0	0.003610	0	0
COL6A2	1292	broad.mit.edu	37	21	47545416	47545416	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47545416C>T	uc002zia.1	+	24	1936	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	COL6A2_uc002zhz.1_Silent_p.F618F|COL6A2_uc002zhy.1_Silent_p.F618F|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	618	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGTGGTCTTCGTCATCGACA	0.607000														47			12		0	0	0.003163	0	0
CCDC50	152137	broad.mit.edu	37	3	191075887	191075887	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:191075887C>T	uc003fsv.3	+	2	803	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CCDC50_uc003fsw.3_Silent_p.A71A	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	71						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGCGCAGGCCCAGCTCCAGA	0.552000														45			51		0	0	0.003610	0	0
ADCY3	109	broad.mit.edu	37	2	25141686	25141686	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25141686G>A	uc010ykm.2	-	0	370	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ADCY3_uc002rfs.4_Silent_p.F57F	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	57					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTCCGGCACGAAAGTCAGCC	0.627000														37			15		0	0	0.004990	0	0
RSPO3	84870	broad.mit.edu	37	6	127476437	127476437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:127476437G>A	uc003qas.1	+	3	778	c.488G>A	c.(487-489)gGa>gAa	p.G163E	RSPO3_uc003qar.3_Missense_Mutation_p.G163E	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	163	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		ACGAAGAAGGGAAAAACATGT	0.463000														77			28		0	0	0.006320	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740983	96740983	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96740983G>A	uc001kka.4	+	6	1030	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	CYP2C9_uc009xut.3_Silent_p.R333R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCAGAAACCGGAGCCCCTGCA	0.493000														81			32		0	0	0.003755	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784839	30784839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30784839G>A	uc002wxn.2	-	2	1124	c.907C>T	c.(907-909)Cct>Tct	p.P303S		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	303						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCATGGTAGGGATGTGGGCA	0.612000														90			65		0	0	0.003610	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815106	1815106	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:1815106C>T	uc010uvl.2	+	19	2493	c.2373C>T	c.(2371-2373)gcC>gcT	p.A791A	MAPK8IP3_uc002cmk.3_Silent_p.A790A|MAPK8IP3_uc002cml.3_Silent_p.A780A|MAPK8IP3_uc021tah.1_Silent_p.A784A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	790					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCATCGACGCCAACCAGCCGG	0.632000														27			12		0	0	0.000978	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368082	18368082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18368082G>A	uc010ebn.2	-	3	4228	c.4012C>T	c.(4012-4014)Cat>Tat	p.H1338Y	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.H1151Y|KIAA1683_uc010xqe.1_Missense_Mutation_p.H1105Y|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	141						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCCGGGTATGGTGGCCTCGC	0.612000														15			45		0	0	0.003610	0	0
ERCC4	2072	broad.mit.edu	37	16	14042072	14042072	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14042072C>T	uc002dce.2	+	10	2628	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	ERCC4_uc010uyz.1_Silent_p.I423I	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	873	Interaction with EME1 and ERCC1.		I -> V (in dbSNP:rs2020957).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTAAGAACATCGCAGAATTAG	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					32			21		0	0	0.003954	0	0
TGFBI	7045	broad.mit.edu	37	5	135390407	135390407	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:135390407G>T	uc003lbf.4	+	9	1428	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	TGFBI_uc003lbg.4_Nonsense_Mutation_p.G156*|TGFBI_uc003lbh.4_Nonsense_Mutation_p.G249*|TGFBI_uc011cyb.2_Nonsense_Mutation_p.G249*	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	423	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTGTAGATGGAACCCCTCC	0.458000														342			8		0.00448238	0.00700707	0.004482	1	0
ZNF474	133923	broad.mit.edu	37	5	121488633	121488633	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121488633G>A	uc003ksv.3	+	1	1324	c.948G>A	c.(946-948)caG>caA	p.Q316Q	ZNF474_uc021ycy.1_Silent_p.Q316Q	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	316						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CAAAATATCAGAATTTGAATT	0.438000														9			35		0	0	0.003755	0	0
DDI1	414301	broad.mit.edu	37	11	103908311	103908311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:103908311C>T	uc001phr.2	+	0	1004	c.761C>T	c.(760-762)cCt>cTt	p.P254L	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	254					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AATGGGCATCCTTTGAAGGCT	0.493000														62			65		0	0	0.003610	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55541558C>T	uc010ril.2	+	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000														71			22		0	0	0.002299	0	0
LINS	55180	broad.mit.edu	37	15	101113902	101113902	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101113902G>A	uc002bwg.3	-	4	1399	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Silent_p.S273S|LINS_uc002bwi.3_Silent_p.S392S	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	392										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGATTTCTAAGGATTTCATTA	0.338000														33			21		0	0	0.002780	0	0
UNC5B	219699	broad.mit.edu	37	10	73051439	73051439	+	Silent	SNP	C	T	T	rs150389249	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73051439C>T	uc001jro.3	+	9	1996	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	UNC5B_uc001jrp.3_Silent_p.F504F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	515					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTAGCGATTTCGCCCGGGACA	0.682000														23			28		0	0	0.001786	0	0
DLG2	1740	broad.mit.edu	37	11	83183773	83183773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:83183773C>T	uc001paj.2	-	17	2329	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	DLG2_uc001pai.2_Missense_Mutation_p.E555K|DLG2_uc010rsy.1_Missense_Mutation_p.E625K|DLG2_uc021qof.1_Missense_Mutation_p.E715K|DLG2_uc010rsz.1_Missense_Mutation_p.E672K|DLG2_uc010rta.1_Missense_Mutation_p.E658K|DLG2_uc001pak.2_Missense_Mutation_p.E781K|DLG2_uc010rtb.1_Missense_Mutation_p.E643K|DLG2_uc010rsx.1_Missense_Mutation_p.E153K|DLG2_uc010rsw.1_Missense_Mutation_p.E140K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	676						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)				AACTTACTTTCCTGCCTTGTA	0.418000														61			22		0	0	0.002780	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572047	76572047	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:76572047G>A	uc002fex.1	+	17	3178	c.3039G>A	c.(3037-3039)gtG>gtA	p.V1013V	CNTNAP4_uc002feu.1_Silent_p.V1009V|CNTNAP4_uc002fev.1_Silent_p.V874V|CNTNAP4_uc010chb.1_Silent_p.V937V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1010					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTCATCCGTGATATACAATT	0.289000														13			4		0	0	0.000248	0	0
TBK1	29110	broad.mit.edu	37	12	64879238	64879238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:64879238C>T	uc001ssc.2	+	9	1352	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	398					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	p.I397fs*12(1)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ATTTCAGTTTCCCTCCCTAAA	0.284000														18			11		0	0	0.000673	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671442	51671442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51671442G>A	uc010ycv.2	+	2	591	c.581G>A	c.(580-582)gGa>gAa	p.G194E	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.G194E|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.G194E|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.G194E					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		TGTGAGCAGGGAACACCCCCC	0.637000														47			19		0	0	0.002299	0	0
LILRB4	11006	broad.mit.edu	37	19	55175661	55175661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55175661C>T	uc002qgp.3	+	3	742	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRB4_uc002qgq.3_Missense_Mutation_p.S127L|LILRB4_uc010ers.1_Missense_Mutation_p.S40L|LILRB4_uc010ert.3_Missense_Mutation_p.S168L|LILRB4_uc010eru.3_Missense_Mutation_p.S156L	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.	127	Ig-like C2-type 2.					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)		CCCACCCTTTCAGCCCTGCCG	0.582000														84			20		0	0	0.001882	0	0
DIDO1	11083	broad.mit.edu	37	20	61513284	61513284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61513284G>A	uc002ydr.2	-	15	4336	c.4024C>T	c.(4024-4026)Ctc>Ttc	p.L1342F	DIDO1_uc002yds.2_Missense_Mutation_p.L1342F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1342					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTGGGGGAGACCTGCGGTG	0.577000														137			38		0	0	0.002852	0	0
DNM1	1759	broad.mit.edu	37	9	130981516	130981516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:130981516G>A	uc022bob.1	+	3	661	c.574G>A	c.(574-576)Gag>Aag	p.E192K	DNM1_uc022bnx.1_Missense_Mutation_p.E192K|DNM1_uc022bny.1_Missense_Mutation_p.E192K|DNM1_uc022bnz.1_Missense_Mutation_p.E192K|DNM1_uc022boa.1_Missense_Mutation_p.E192K	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	192					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTCGCCAAGGAGGTGGACCC	0.582000														43			21		0	0	0.001882	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406562	33406562	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33406562C>T	uc011dri.2	+	9	1737	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	SYNGAP1_uc003oeo.1_Silent_p.I499I|SYNGAP1_uc010juy.3_Silent_p.I499I|SYNGAP1_uc010juz.3_Silent_p.I226I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	514	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGAATTCATCCGTGCTCTGT	0.557000														138			101		0	0	0.003610	0	0
GALNTL2	117248	broad.mit.edu	37	3	16237312	16237312	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16237312C>T	uc003car.4	+	1	1060	c.585C>T	c.(583-585)gtC>gtT	p.V195V	GALNTL2_uc003caq.4_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	195	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CAGCCAGCGTCATCCTCTGTT	0.592000														38			14		0	0	0.004990	0	0
EFNA5	1946	broad.mit.edu	37	5	106717056	106717056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:106717056G>A	uc003kol.3	-	4	869	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	196					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGATGGCTCGGCTGACTCATG	0.488000														19			34		0	0	0.003755	0	0
CCDC158	339965	broad.mit.edu	37	4	77292590	77292590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:77292590C>T	uc003hkb.4	-	8	1282	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	377										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGAAGTTGATCATCTAAATTT	0.378000														14			5		0	0	0.001984	0	0
C15orf2	23742	broad.mit.edu	37	15	24921510	24921510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:24921510C>T	uc001ywo.3	+	0	970	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	166					cell differentiation|multicellular organismal development|spermatogenesis			p.P166P(1)|p.P166Q(1)		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)		GGATGAGGATCCGGTGCAGAT	0.632000														22			10		0	0	0.006214	0	0
FMOD	2331	broad.mit.edu	37	1	203316868	203316868	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203316868G>A	uc001gzr.3	-	1	667	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	177					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCTCTCTCAGGGATCGAGGCA	0.592000														150			39		0	0	0.002222	0	0
DGUOK	1716	broad.mit.edu	37	2	74173931	74173931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74173931C>T	uc002sjx.3	+	2	426	c.341C>T	c.(340-342)tCc>tTc	p.S114F	DGUOK_uc002sjy.3_Missense_Mutation_p.S114F|DGUOK_uc002sjz.3_Non-coding_Transcript	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	114					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGACATTTTCCTTTTTGAGC	0.507000														37			12		0	0	0.000978	0	0
RBKS	64080	broad.mit.edu	37	2	28004589	28004589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:28004589C>T	uc002rlo.1	-	7	873	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	RBKS_uc010ezi.1_Missense_Mutation_p.E221K	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	288					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCATGTCTTCCAAGGACAGA	0.458000														33			35		0	0	0.006999	0	0
GOLT1B	51026	broad.mit.edu	37	12	21654863	21654863	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21654863C>T	uc001rez.2	+	0	165	c.6C>T	c.(4-6)atC>atT	p.I2I	RECQL_uc001rex.3_5'Flank|RECQL_uc001rey.3_5'Flank|GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Non-coding_Transcript	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	2					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						CAGCCATGATCTCCTTAACGG	0.677000														3			22		0	0	0.003330	0	0
CDSN	1041	broad.mit.edu	37	6	31083859	31083860	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31083859_31083860GG>AA	uc003nsm.2	-	1	1588_1589	c.1532_1533CC>TT	c.(1531-1533)ccc>cTT	p.P511L	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	511					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CAGCTAGCTGGGGCCCCAGAGG	0.564000														84			20		0	0	0.004672	0	0
NOX4	50507	broad.mit.edu	37	11	89184968	89184968	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89184968G>A	uc001pct.3	-	2	488	c.249C>T	c.(247-249)ctC>ctT	p.L83L	NOX4_uc009yvr.3_Silent_p.L58L|NOX4_uc001pcu.3_Silent_p.L9L|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Silent_p.L83L|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Silent_p.L83L|NOX4_uc010rtv.2_Silent_p.L59L|NOX4_uc009yvq.3_Silent_p.L59L|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	83	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTGATCCTCGGAGGTAAGCCA	0.413000														27			37		0	0	0.002522	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818558	23818558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23818558G>A	uc001wjl.3	-	2	686	c.449C>T	c.(448-450)tCc>tTc	p.S150F	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Missense_Mutation_p.S150F|SLC22A17_uc001wjn.3_Non-coding_Transcript|SLC22A17_uc010akl.1_Missense_Mutation_p.S150F	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	150					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCTGTGGAGGAGCCTGCAGC	0.607000														15			12		0	0	0.000978	0	0
HNF4G	3174	broad.mit.edu	37	8	76470901	76470903	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:76470901_76470903TC>AT	uc003yaq.3	+	7	1011_1013	c.741_743TC>AT	c.(739-744)gatcca>gaATa	p.247_248DP>E	HNF4G_uc003yar.3_Missense_Mutation_p.284_285DP>E	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	247					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P248Q(2)|p.D247N(1)|p.P285Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TATTTTTTGATCCAGGTTGGTTT	0.305000														60			51		0	0	0.004672	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651718	128651718	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:128651718G>A	uc003ifl.3	+	0	164	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	6					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GTGAGCCTGCGAAAAAGAAGG	0.552000														65			18		0	0	0.007413	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998981	27998981	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:27998981G>A	uc004dbx.1	-	0	586	c.471C>T	c.(469-471)gtC>gtT	p.V157V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	157										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GAGCAGTAAGGACTTGCCAGC	0.562000														2			13		0	0	0.001855	0	0
KRT78	196374	broad.mit.edu	37	12	53242410	53242410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53242410G>A	uc001sbc.1	-	0	369	c.305C>T	c.(304-306)cCc>cTc	p.P102L		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	102	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGAACTGGGGATCGATCTC	0.572000														19			32		0	0	0.002836	0	0
OR13C9	286362	broad.mit.edu	37	9	107380476	107380476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107380476C>T	uc011lvr.2	-	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GTTTGGTTTTCCCATTCCATT	0.308000														15			14		0	0	0.004007	0	0
LTBP3	4054	broad.mit.edu	37	11	65315422	65315422	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65315422G>A	uc001oej.3	-	11	2084	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Silent_p.Y35Y|LTBP3_uc010roi.2_Silent_p.Y488Y|LTBP3_uc001oei.3_Silent_p.Y605Y|LTBP3_uc010roj.2_Silent_p.Y306Y|LTBP3_uc010rok.1_Silent_p.Y516Y	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	605	Cys-rich.|EGF-like 3.					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						GATGTGACCGGTAGCCGGGGT	0.667000														16			25		0	0	0.005443	0	0
LMTK2	22853	broad.mit.edu	37	7	97832933	97832933	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97832933C>T	uc003upd.2	+	11	4448	c.4155C>T	c.(4153-4155)ggC>ggT	p.G1385G		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1385					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGCGTGCGGCCCGGACCTGA	0.602000														25			10		0	0	0.000978	0	0
CSN2	1447	broad.mit.edu	37	4	70823295	70823296	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70823295_70823296GG>AA	uc003hes.4	-	4	384_385	c.371_372CC>TT	c.(370-372)ccc>cTT	p.P124L	CSN2_uc003het.4_Missense_Mutation_p.P123L	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GGTCAAAAAAGGGTATCGTTGG	0.480000														35			17		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869593	140869593	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140869593C>T	uc003lla.2	+	0	786	c.786C>T	c.(784-786)ctC>ctT	p.L262L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.L262L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	262	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCTGCTCCGCCTCAATG	0.522000														89			96		0	0	0.003610	0	0
DGKK	139189	broad.mit.edu	37	X	50114815	50114815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50114815C>T	uc010njr.2	-	26	3543	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1174					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGCAGTCTCATCCTCAGCA	0.468000														1			11		0	0	0.001368	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364577	62364578	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62364577_62364578CC>TT	uc002ygk.3	+	2	780_781	c.591_592CC>TT	c.(589-594)tcccat>tcTTat	p.H198Y	ZGPAT_uc002ygi.2_Missense_Mutation_p.H198Y|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.H198Y|ZGPAT_uc002ygm.3_Missense_Mutation_p.H198Y|ZGPAT_uc002ygj.2_Missense_Mutation_p.H198Y|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	198					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGGTTCTCCCATGGGCAGGT	0.653000														60			12		0	0	0.004672	0	0
STYXL1	51657	broad.mit.edu	37	7	75643088	75643089	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:75643088_75643089CG>AT	uc003uel.3	-	4	767_768	c.424_425CG>AT	c.(424-426)cgg>ATg	p.R142M	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Intron|STYXL1_uc011kgf.2_Intron|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Missense_Mutation_p.R142M|STYXL1_uc010ldg.2_Intron|STYXL1_uc010ldh.2_Missense_Mutation_p.R142M|STYXL1_uc003uen.1_Missense_Mutation_p.R142M	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	142					intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTTCTGGGTCCGGAGAAAGTGG	0.579000														478			8		0	0	0.004672	0	0
E2F2	1870	broad.mit.edu	37	1	23847473	23847473	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:23847473G>A	uc001bhe.2	-	3	1096	c.669C>T	c.(667-669)gcC>gcT	p.A223A		NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	223	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCTGGTCCAAGGCCTGCTCCG	0.577000														22			17		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179650595	179650595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179650595C>T	uc021vsy.1	-	13	2575	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	TTN_uc021vsz.1_Missense_Mutation_p.G738R|TTN_uc021vta.1_Missense_Mutation_p.G738R|TTN_uc021vtb.1_Missense_Mutation_p.G738R|TTN_uc002unb.2_Missense_Mutation_p.G784R|TTN_uc010frg.1_Missense_Mutation_p.G366R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	784							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G784R(3)|p.G738R(3)|p.G783A(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)			ATGTGCATTCCCTTTTGATCA	0.463000														25			22		0	0	0.002299	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712380	31712380	+	Missense_Mutation	SNP	C	T	T	rs145049164	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:31712380C>T	uc021wuu.1	-	8	2493	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	OSBPL10_uc003ceu.1_Missense_Mutation_p.G365R|OSBPL10_uc011axf.2_Missense_Mutation_p.G544R	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	608					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTTTCCTCCGAGCTCCACC	0.557000														80			21		0	0	0.001882	0	0
FGFBP3	143282	broad.mit.edu	37	10	93668634	93668634	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:93668634C>T	uc001khq.4	-	1	275	c.93G>A	c.(91-93)ggG>ggA	p.G31G	FGFBP3_uc021pwg.1_Silent_p.G31G	NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	Homo sapiens fibroblast growth factor binding protein 3 (FGFBP3), mRNA.	31					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				TGCTAGCCGCCCCTTTCTCCC	0.716000														9			4		0	0	0.001168	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168713	32168713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32168713C>T	uc003obb.3	-	22	4349	c.4210G>A	c.(4210-4212)Gac>Aac	p.D1404N	NOTCH4_uc003oba.3_Missense_Mutation_p.D67N|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1404					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCCAGGGTCCCAGGGACAG	0.642000														302			58		0	0	0.003610	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348843	49348843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49348843G>A	uc002pkx.3	-	14	2148	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	PLEKHA4_uc010eml.3_Missense_Mutation_p.P508S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	533						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGACCTAGGGGAGCTCAGT	0.527000														23			29		0	0	0.006320	0	0
RRP1B	23076	broad.mit.edu	37	21	45107874	45107874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45107874C>T	uc002zdk.3	+	12	1733	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L	RRP1B_uc002zdl.3_Missense_Mutation_p.P73L	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	540					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CTGTCCACGCCGGCCTGGCCT	0.647000														39			9		0	0	0.006214	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598346	46598346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46598346G>A	uc009zkj.1	-	9	1359	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SLC38A1_uc001rpb.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpc.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpd.3_Missense_Mutation_p.S225F|SLC38A1_uc001rpe.3_Missense_Mutation_p.S225F|SLC38A1_uc010slh.2_Missense_Mutation_p.S198F|SLC38A1_uc001rpa.3_Missense_Mutation_p.S225F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAGCTCAAGGAAAATCCACT	0.294000														166			34		0	0	0.006230	0	0
FAM83C	128876	broad.mit.edu	37	20	33874493	33874493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:33874493C>T	uc021wck.1	-	3	2207	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.E352K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	697										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCAGGCTCAGTTCCCTGC	0.587000														111			48		0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12445353	12445353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12445353C>T	uc001atv.3	+	58	11546	c.11405C>T	c.(11404-11406)tCa>tTa	p.S3802L	VPS13D_uc001atw.3_Missense_Mutation_p.S3777L|VPS13D_uc001atx.3_Missense_Mutation_p.S2989L|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3801					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGCCGTTCATATGAAGTG	0.388000														23			11		0	0	0.001368	0	0
KIAA0284	283638	broad.mit.edu	37	14	105355926	105355926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:105355926C>T	uc001yps.3	+	11	3910	c.3604C>T	c.(3604-3606)Ccc>Tcc	p.P1202S	KIAA0284_uc010axb.3_Intron|KIAA0284_uc001ypt.3_5'UTR	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1272						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCACGGCTCCCCCAAACACAC	0.667000														8			9		0	0	0.006214	0	0
MYH4	4622	broad.mit.edu	37	17	10363547	10363547	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10363547G>A	uc002gmn.3	-	12	1350	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	413	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTGGTTACGAACTCATTGC	0.433000														48			31		0	0	0.002836	0	0
USP6	9098	broad.mit.edu	37	17	5076112	5076112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5076112G>A	uc002gau.1	+	37	6290	c.4060G>A	c.(4060-4062)Gat>Aat	p.D1354N	USP6_uc002gav.1_Missense_Mutation_p.D1354N|USP6_uc010ckz.1_Missense_Mutation_p.D1037N	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1354					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTTCACCCTGATGAAATTGA	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									93			24		0	0	0.005443	0	0
ELTD1	64123	broad.mit.edu	37	1	79357242	79357242	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:79357242G>A	uc001diq.4	-	13	2133	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	659					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		ATAAAAAAATGAACATCCCCT	0.398000														10			9		0	0	0.006214	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000														89			38		0	0	0.004878	0	0
LRIT3	345193	broad.mit.edu	37	4	110791254	110791254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:110791254G>A	uc003hzx.4	+	2	1407	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	LRIT3_uc003hzw.4_Missense_Mutation_p.R267K	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	405						integral to membrane		p.R267I(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAAAGAAATTTAAAG	0.463000														15			19		0	0	0.006122	0	0
ANXA1	301	broad.mit.edu	37	9	75775776	75775776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:75775776G>A	uc004ajf.1	+	5	516	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	ANXA1_uc004ajg.1_Missense_Mutation_p.E148K	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	148					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACTAACAAAGAAATCAGAGA	0.328000														94			61		0	0	0.003610	0	0
FAM111B	374393	broad.mit.edu	37	11	58893522	58893522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58893522G>A	uc001nnl.3	+	3	2195	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	FAM111B_uc001nnm.3_Missense_Mutation_p.G621D|FAM111B_uc010rko.2_Missense_Mutation_p.G621D|FAM111B_uc021qjn.1_Missense_Mutation_p.G621D	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	651							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGGTCCTCAGGCTCCCCAGTG	0.398000														29			31		0	0	0.002096	0	0
PPFIA4	8497	broad.mit.edu	37	1	203028942	203028942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203028942C>T	uc009xaj.3	+	25	2921	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	PPFIA4_uc010pqf.2_Missense_Mutation_p.A556V|PPFIA4_uc001gyz.3_Missense_Mutation_p.A343V|PPFIA4_uc001gza.3_Missense_Mutation_p.A343V|PPFIA4_uc001gzb.1_Missense_Mutation_p.A38V			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	343					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGCCCTTTGCCCAGTGGGAT	0.537000														25			11		0	0	0.000673	0	0
BRIP1	83990	broad.mit.edu	37	17	59760695	59760695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:59760695G>A	uc002izk.2	-	19	4018	c.3712C>T	c.(3712-3714)Cct>Tct	p.P1238S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1238					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.S1237F(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTTTGGAAGGAGATGGTTTA	0.289000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						54			39		0	0	0.007835	0	0
GCLM	2730	broad.mit.edu	37	1	94362304	94362304	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94362304T>A	uc001dqg.1	-	4	703	c.410A>T	c.(409-411)aAt>aTt	p.N137I		NM_002061	NP_002052	P48507	GSH0_HUMAN	Homo sapiens glutamate-cysteine ligase, modifier subunit (GCLM), mRNA.	137					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CAAGGAAAGATTAACTCCATC	0.408000														42			27		0	0	0.006320	0	0
TBL3	10607	broad.mit.edu	37	16	2025811	2025811	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2025811C>T	uc002cnu.1	+	10	1092	c.990C>T	c.(988-990)ttC>ttT	p.F330F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.F216F|TBL3_uc010bsc.1_Silent_p.F216F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	330					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCCCGCAGTTCGCTGGCTACA	0.612000														76			34		0	0	0.006999	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461529	91461529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:91461529C>T	uc010bnz.2	+	20	3215	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	MAN2A2_uc002bqc.3_Missense_Mutation_p.P1034S|MAN2A2_uc010uql.2_Missense_Mutation_p.P696S|MAN2A2_uc010uqm.2_Missense_Mutation_p.P613S|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1034					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGCAGCTCCCAGGCCCTGG	0.612000														447			349		0	0	0.003610	0	0
TMEM131	23505	broad.mit.edu	37	2	98392351	98392351	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:98392351G>A	uc002syh.4	-	31	4504	c.4275C>T	c.(4273-4275)acC>acT	p.T1425T		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1425	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTCTGTGGTGGTGGAGGAGC	0.517000														39			9		0	0	0.004482	0	0
IGSF1	3547	broad.mit.edu	37	X	130415714	130415714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130415714C>T	uc004ewe.4	-	7	1734	c.1451G>A	c.(1450-1452)tGc>tAc	p.C484Y	IGSF1_uc004ewd.3_Missense_Mutation_p.C484Y|IGSF1_uc022cdv.1_Missense_Mutation_p.C475Y|IGSF1_uc004ewf.2_Missense_Mutation_p.C464Y	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	484	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCGATAGCTGCAACTGTAGGT	0.478000														1			43		0	0	0.003214	0	0
NOMO1	23420	broad.mit.edu	37	16	14947435	14947435	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14947435T>A	uc002dcv.3	+	7	913	c.847T>A	c.(847-849)Tcc>Acc	p.S283T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	283						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCTTTCTATTCCTTGCCAAG	0.493000														152			157		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7527914	7527914	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7527914G>A	uc010sge.2	-	10	3020	c.2994C>T	c.(2992-2994)ccC>ccT	p.P998P	CD163L1_uc001qsy.3_Silent_p.P988P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	988	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATGGATACAGGGAGGTGCTC	0.443000														23			4		0	0	0.001168	0	0
ZNF713	349075	broad.mit.edu	37	7	56006825	56006825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:56006825C>T	uc003tra.2	+	6	1265	c.458C>T	c.(457-459)cCa>cTa	p.P153L	ZNF713_uc003trc.1_Missense_Mutation_p.P140L	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATTACCATCCAGAGTTTAAC	0.408000														53			9		0	0	0.000673	0	0
RP1	6101	broad.mit.edu	37	8	55538384	55538384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538384G>A	uc003xsd.1	+	3	2090	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	648					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)			ACTAATTAATGAATTTGCTCA	0.348000														20			11		0	0	0.000673	0	0
MYH4	4622	broad.mit.edu	37	17	10364338	10364338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10364338C>T	uc002gmn.3	-	11	1153	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	348	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCACCTTTTCATCAGCAGTG	0.488000														65			25		0	0	0.006320	0	0
PDILT	204474	broad.mit.edu	37	16	20384349	20384349	+	Silent	SNP	G	A	A	rs145263436		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20384349G>A	uc002dhc.1	-	5	1000	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	259					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.I259I(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTTGTATTCGATCACAAAAT	0.443000														45			47		0	0	0.003610	0	0
MSLN	10232	broad.mit.edu	37	16	814721	814721	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:814721C>T	uc002cjw.2	+	5	486	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MSLN_uc002cju.1_Silent_p.F125F|MSLN_uc002cjt.1_Silent_p.F125F|MSLN_uc010brd.1_Silent_p.F124F|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	125					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGCTGCTATTCCTCAAGTAGG	0.692000														71			24		0	0	0.003330	0	0
MUS81	80198	broad.mit.edu	37	11	65631084	65631085	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65631084_65631085CC>TT	uc001ofv.4	+	8	1206_1207	c.853_854CC>TT	c.(853-855)ccg>TTg	p.P285L	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	285	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CGGGCACAGGCCGGAGCTGCTC	0.629000								Homologous recombination						3			11		0	0	0.004672	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	T	T	rs143101113		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201354881C>T	uc001gwm.3	-	3	1314	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_uc009wzu.1_Missense_Mutation_p.R382Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			108		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152534195	152534195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152534195C>T	uc021vrb.1	-	31	3687	c.3658G>A	c.(3658-3660)Ggt>Agt	p.G1220S	NEB_uc002txu.3_Missense_Mutation_p.G1220S|NEB_uc021vrc.1_Missense_Mutation_p.G1220S|NEB_uc010fnx.3_Missense_Mutation_p.G1220S|NEB_uc021vrd.1_Missense_Mutation_p.G1220S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1220					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAGCATCACCGGCCTTTTTA	0.453000														177			52		0	0	0.003610	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616219	140616219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140616219C>T	uc003ljc.1	+	0	2282	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCTCGGTGTCGTCGCTCTTC	0.687000														157			30		0	0	0.002836	0	0
OR5M11	219487	broad.mit.edu	37	11	56310114	56310114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56310114G>A	uc010rjl.2	-	0	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GAGGGAGCTGGAGAGGTTGAA	0.498000														30			8		0	0	0.003080	0	0
ZNF425	155054	broad.mit.edu	37	7	148815384	148815384	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148815384G>A	uc003wfj.3	-	1	208	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	25	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTTCTCCAGGATCTCCCACT	0.393000														158			76		0	0	0.003610	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800476	67800476	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67800476C>T	uc001onc.3	+	3	313	c.196C>T	c.(196-198)Cga>Tga	p.R66*	NDUFS8_uc010rpz.2_Nonsense_Mutation_p.R66*|NDUFS8_uc009ysb.2_Intron|MIR4691_uc021qml.1_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) (NDUFS8), nuclear gene encoding mitochondrial protein, mRNA.	66					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	TGAGCTCTTCCGAGGTGCGTC	0.652000														26			28		0	0	0.007291	0	0
KIF21B	23046	broad.mit.edu	37	1	200978460	200978460	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200978460G>A	uc001gvs.2	-	1	515	c.198C>T	c.(196-198)acC>acT	p.T66T	KIF21B_uc009wzl.2_Silent_p.T66T|KIF21B_uc001gvr.2_Silent_p.T66T|KIF21B_uc010ppn.2_Silent_p.T66T	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	66	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCTCACACAGGTGGAATAGA	0.582000														42			10		0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38620875	38620875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38620875C>T	uc021wvo.1	-	16	3392	c.3340G>A	c.(3340-3342)Gac>Aac	p.D1114N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1113N|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.D1114N|SCN5A_uc021wvn.1_Missense_Mutation_p.D1113N|SCN5A_uc021wvp.1_Missense_Mutation_p.D1114N|SCN5A_uc021wvq.1_Missense_Mutation_p.D1113N|SCN5A_uc021wvr.1_Missense_Mutation_p.D1114N|SCN5A_uc021wvs.1_Missense_Mutation_p.D1114N|SCN5A_uc021wvt.1_Missense_Mutation_p.D1113N|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.D1114N|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.D980N|SCN5A_uc021wvw.1_Missense_Mutation_p.D724N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1114			D -> N (in LQT3).		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)	TGCCGCCAGTCGGCCTGAGAT	0.677000														5			8		0	0	0.003080	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916612	86916612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86916612C>T	uc003hpk.3	+	8	2254	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ARHGAP24_uc003hpl.3_Missense_Mutation_p.S507F|ARHGAP24_uc010ikf.3_Missense_Mutation_p.S517F|ARHGAP24_uc003hpm.3_Missense_Mutation_p.S509F	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	602					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GACGACCTTTCCCACCCCAGG	0.552000														29			19		0	0	0.007413	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349645	38349645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38349645C>T	uc010cwu.1	+	13	1712	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R344C	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	614					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAGGACAATCCGCAAATACCG	0.552000														104			31		0	0	0.002445	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315384	73315384	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:73315384C>T	uc002siu.4	-	2	1603	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	RAB11FIP5_uc002sit.4_Silent_p.R376R	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	454					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GTTCCTCCTTCCGGGCTCCCT	0.652000														54			59		0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128722309	128722309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:128722309C>T	uc003ifm.3	+	4	699	c.446C>T	c.(445-447)aCt>aTt	p.T149I	HSPA4L_uc010iny.1_Missense_Mutation_p.T108I|HSPA4L_uc011cgr.2_Missense_Mutation_p.T116I	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	149					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGCTTTTTTACTGATGCCGAG	0.338000														40			15		0	0	0.007413	0	0
HNF1B	6928	broad.mit.edu	37	17	36093787	36093787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:36093787C>T	uc002hok.4	-	2	793	c.572G>A	c.(571-573)gGa>gAa	p.G191E	HNF1B_uc021tvu.1_5'Flank|HNF1B_uc010wdi.2_Intron|HNF1B_uc021tvv.1_Missense_Mutation_p.G191E|HNF1B_uc021tvw.1_Intron|HNF1B_uc010cve.1_5'UTR	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	191					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTCATATTTCCAGAACTCTG	0.478000														255			198		0	0	0.003610	0	0
ADK	132	broad.mit.edu	37	10	75960564	75960564	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:75960564C>T	uc001jwi.3	+	1	202	c.108C>T	c.(106-108)atC>atT	p.I36I	ADK_uc010qlb.2_Silent_p.I36I|ADK_uc001jwj.3_Silent_p.I19I|ADK_uc010qlc.2_Silent_p.I19I	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	36					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TGCTTGACATCTCTGCTGTAG	0.303000														15			15		0	0	0.007413	0	0
SEMG2	6407	broad.mit.edu	37	20	43850450	43850450	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43850450C>T	uc010ggz.3	+	1	234	c.177C>T	c.(175-177)tcC>tcT	p.S59S	SEMG2_uc002xnk.3_Silent_p.S59S|SEMG2_uc002xnl.3_Silent_p.S59S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	59					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATACTAAATCCAAAGGCAGTT	0.403000														81			38		0	0	0.006230	0	0
RPL10L	140801	broad.mit.edu	37	14	47120507	47120507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:47120507C>T	uc001wwg.3	-	0	522	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	145					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.E145K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ACATGCTCCTCGTTCTGAAGC	0.527000														32			20		0	0	0.002780	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706777	26706777	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26706777C>T	uc003acb.3	+	6	1852	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A	SEZ6L_uc003acd.3_Silent_p.A552A|SEZ6L_uc011akd.2_Silent_p.A552A|SEZ6L_uc003ace.3_Silent_p.A552A|SEZ6L_uc011akc.2_Silent_p.A552A|SEZ6L_uc003acc.3_Silent_p.A552A|SEZ6L_uc003acf.1_Silent_p.A325A|SEZ6L_uc010gvc.1_Silent_p.A325A	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	552	CUB 2.					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						CCCGGGCGGCCTCCACCTTCA	0.602000														14			95		0	0	0.003610	0	0
MSMB	4477	broad.mit.edu	37	10	51555799	51555799	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:51555799C>T	uc001jiq.3	+	1	104	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Silent_p.F24F	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	24						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						CATGCTATTTCATACCTAATG	0.438000														30			10		0	0	0.000978	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274137	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:45274136_45274137GG>AA	uc001myq.2	-	3	807_808	c.681_682CC>TT	c.(679-684)ctcccc>ctTTcc	p.P228S	SYT13_uc009yku.1_Missense_Mutation_p.P84S	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	228	C2 1.					transport vesicle		p.P228T(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGGC	0.678000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			28		0	0	0.004672	0	0
FRG2	448831	broad.mit.edu	37	4	190947577	190947577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:190947577C>T	uc011clh.2	-	2	349	c.296G>A	c.(295-297)aGa>aAa	p.R99K	FRG2_uc003izv.3_Missense_Mutation_p.R98K	NM_001005217	NP_001005217	Q64ET8	FRG2_HUMAN	Homo sapiens FSHD region gene 2 (FRG2), mRNA.	98						nucleus				large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		ACTCATTTTTCTTTTCCTGCA	0.443000														30			40		0	0	0.003610	0	0
NUP205	23165	broad.mit.edu	37	7	135300760	135300760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:135300760C>T	uc003vsw.3	+	23	3438	c.3407C>T	c.(3406-3408)aCc>aTc	p.T1136I		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1136					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGGTCACATACCCAGAGGCTC	0.428000														105			15		0	0	0.006122	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71101260C>T	uc002ezr.3	-	14	2159	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_uc010cfz.2_Missense_Mutation_p.E415K|HYDIN_uc021tkq.1_Missense_Mutation_p.E670K|HYDIN_uc010vmc.2_Missense_Mutation_p.E687K|HYDIN_uc010vmd.2_Missense_Mutation_p.E697K|HYDIN_uc002ezw.4_Missense_Mutation_p.E687K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	670										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)				AGTGCCAGCTCGTATTTCTGC	0.527000														22			34		0	0	0.005524	0	0
CHRM2	1129	broad.mit.edu	37	7	136700369	136700369	+	Missense_Mutation	SNP	G	A	A	rs140681489	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700369G>A	uc003vtf.1	+	3	1380	c.757G>A	c.(757-759)Gat>Aat	p.D253N	CHRM2_uc003vtg.1_Missense_Mutation_p.D253N|CHRM2_uc003vti.1_Missense_Mutation_p.D253N|CHRM2_uc003vtm.1_Missense_Mutation_p.D253N|CHRM2_uc003vtj.1_Missense_Mutation_p.D253N|CHRM2_uc003vtk.1_Missense_Mutation_p.D253N|CHRM2_uc003vtl.1_Missense_Mutation_p.D253N|CHRM2_uc003vtn.1_Missense_Mutation_p.D253N|CHRM2_uc003vto.1_Missense_Mutation_p.D253N|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.D253N	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	253					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.D253N(4)|p.D253E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCAGTGACGATGGCCTGGA	0.512000														6			40		0	0	0.007835	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972665	35972665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35972665G>A	uc001byx.3	-	2	472	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.H72Y	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	72	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCAGAGGTGATTTTCTCCC	0.512000														52			28		0	0	0.007291	0	0
UROC1	131669	broad.mit.edu	37	3	126224595	126224595	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126224595C>T	uc010hsi.2	-	7	816	c.762G>A	c.(760-762)ggG>ggA	p.G254G	UROC1_uc003eiz.2_Silent_p.G254G	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	254					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGCCTGAGCCCCACTCATTC	0.642000														36			14		0	0	0.003163	0	0
MPL	4352	broad.mit.edu	37	1	43818335	43818335	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43818335G>A	uc001ciw.3	+	11	1845	c.1800G>A	c.(1798-1800)ggG>ggA	p.G600G	MPL_uc009vwr.3_Silent_p.G593G	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	600					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTGCCTGGGGACCATGCCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							24			13		0	0	0.002450	0	0
TPTE	7179	broad.mit.edu	37	21	10951384	10951384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10951384G>A	uc002yip.1	-	9	696	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L92F|TPTE_uc002yir.1_Missense_Mutation_p.L72F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	110					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R109C(1)|p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTCGGCAAGGATGAGAGTG	0.323000														68			27		0	0	0.002096	0	0
DISP2	85455	broad.mit.edu	37	15	40659901	40659901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40659901C>T	uc001zlk.1	+	7	1677	c.1588C>T	c.(1588-1590)Ctt>Ttt	p.L530F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	530	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCTTCTTCCTTTACCAGGT	0.607000														44			19		0	0	0.001523	0	0
TRPM2	7226	broad.mit.edu	37	21	45811262	45811262	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45811262G>A	uc010gpt.1	+	10	1648	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	TRPM2_uc002zet.1_Nonsense_Mutation_p.W516*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.W516*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.W516*|TRPM2_uc002zex.1_Nonsense_Mutation_p.W302*|TRPM2_uc002zey.1_Nonsense_Mutation_p.W29*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	516						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTCACCTGGGACACCTTGC	0.587000														111			19		0	0	0.007413	0	0
PTBP2	58155	broad.mit.edu	37	1	97278483	97278483	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97278483C>T	uc001drq.3	+	12	1634	c.1388_splice	c.e12+1	p.P463_splice	PTBP2_uc001drn.2_Splice_Site_p.P468_splice|PTBP2_uc001dro.2_Splice_Site_p.P463_splice|PTBP2_uc010otz.1_Splice_Site_p.P479_splice|PTBP2_uc001drp.2_Splice_Site|PTBP2_uc009wdw.2_Splice_Site_p.P411_splice|PTBP2_uc001drr.3_Splice_Site_p.P468_splice|PTBP2_uc001dru.3_Splice_Site|PTBP2_uc001drs.1_Splice_Site_p.P82_splice|PTBP2_uc001drt.3_Splice_Site_p.P82_splice|PTBP2_uc021oqi.1_5'Flank	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	463	RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATCTAATATCCCGTAAGTATA	0.308000														16			11		0	0	0.000978	0	0
RGS3	5998	broad.mit.edu	37	9	116269610	116269610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:116269610C>T	uc004bhq.3	+	13	1338	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	RGS3_uc004bhr.3_Missense_Mutation_p.P265S|RGS3_uc004bhs.3_Missense_Mutation_p.P267S|RGS3_uc004bht.3_Missense_Mutation_p.P96S|RGS3_uc010muy.3_Missense_Mutation_p.P96S|RGS3_uc004bhu.3_Missense_Mutation_p.P3S	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	377					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCGCATGGTCCCCCAGGTCAA	0.617000														26			9		0	0	0.006214	0	0
LRP1	4035	broad.mit.edu	37	12	57589078	57589078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57589078C>T	uc001snd.3	+	51	8799	c.8333C>T	c.(8332-8334)tCc>tTc	p.S2778F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2778	LDL-receptor class A 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCCTCCTCCTTCTCCTGC	0.622000														294			44		0	0	0.002522	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504210	220504210	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220504210C>T	uc002vmo.4	+	19	3320	c.3111C>T	c.(3109-3111)atC>atT	p.I1037I	SLC4A3_uc002vmp.4_Silent_p.I1010I|SLC4A3_uc010fwm.3_Silent_p.I560I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1010	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGCTTATCGTCAGCCAGA	0.662000														27			19		0	0	0.002780	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903659	38903659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38903659G>A	uc021uub.1	-	11	1661	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Nonsense_Mutation_p.R414*|RASGRP4_uc021uua.1_Nonsense_Mutation_p.R449*|RASGRP4_uc021uuc.1_Nonsense_Mutation_p.R391*|RASGRP4_uc021uud.1_Nonsense_Mutation_p.R386*|RASGRP4_uc021uue.1_Nonsense_Mutation_p.R294*|RASGRP4_uc021uuf.1_Nonsense_Mutation_p.R469*	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	483	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATTGTTCCTCGGCCTTCAGGG	0.542000														63			20		0	0	0.001216	0	0
OR2K2	26248	broad.mit.edu	37	9	114090518	114090518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:114090518G>A	uc011lwp.2	-	0	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATGAAAGAGAGATTTCCAAGG	0.413000														17			18		0	0	0.007413	0	0
PCSK5	5125	broad.mit.edu	37	9	78638703	78638703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78638703G>A	uc004akc.2	+	3	999	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PCSK5_uc004ajy.2_Missense_Mutation_p.G154E|PCSK5_uc004ajz.3_Missense_Mutation_p.G154E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	154	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATATCGAAGGAGCCTGGAAG	0.453000														32			22		0	0	0.003954	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784371	9784371	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:9784371T>A	uc001aqe.4	+	20	3036	c.2828T>A	c.(2827-2829)tTc>tAc	p.F943Y	PIK3CD_uc001aqb.4_Missense_Mutation_p.F919Y|PIK3CD_uc010oaf.2_Missense_Mutation_p.F918Y|PIK3CD_uc021ogb.1_Missense_Mutation_p.F703Y	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	919	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)		CTGGGGAATTTCAAGACCAAG	0.498000														42			29		0	0	0.002836	0	0
TDP1	55775	broad.mit.edu	37	14	90458319	90458319	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:90458319C>A	uc001xxy.3	+	12	1724	c.1425C>A	c.(1423-1425)tcC>tcA	p.S475S	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.S475S|TDP1_uc010atn.3_Silent_p.S475S|TDP1_uc001xya.3_Silent_p.S236S|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_Silent_p.S90S	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	475					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGCTGCATTCCTATTTTCAGT	0.308000								Repair of DNA-protein crosslinks						14			43		6.18754e-15	9.8293e-15	0.003610	1	0
ALS2CR8	79800	broad.mit.edu	37	2	203817287	203817287	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:203817287C>T	uc002uzo.2	+	4	592	c.312C>T	c.(310-312)atC>atT	p.I104I	ALS2CR8_uc002uzn.3_Silent_p.I2I|ALS2CR8_uc002uzm.3_Silent_p.I104I|ALS2CR8_uc010zhy.1_Silent_p.I104I|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Silent_p.I28I|ALS2CR8_uc010zib.1_Silent_p.I28I|ALS2CR8_uc010zic.1_Silent_p.I16I|ALS2CR8_uc002uzp.2_Silent_p.I104I	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	104										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CCAAGATGATCGTTGCCAGCC	0.358000														109			59		0	0	0.003610	0	0
COL4A6	1288	broad.mit.edu	37	X	107424153	107424153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107424153C>T	uc004enw.4	-	23	2103	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	COL4A6_uc004env.4_Missense_Mutation_p.G666E|COL4A6_uc011msn.2_Missense_Mutation_p.G666E|COL4A6_uc010npk.3_Missense_Mutation_p.G666E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	667	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCTGGAAATCCTGATGGACC	0.488000									Alport syndrome with Diffuse Leiomyomatosis					2			21		0	0	0.003954	0	0
ZNF274	10782	broad.mit.edu	37	19	58723952	58723952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58723952C>T	uc002qrq.1	+	8	1861	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	ZNF274_uc002qrr.1_Missense_Mutation_p.H436Y|ZNF274_uc002qrs.1_Missense_Mutation_p.H363Y|ZNF274_uc010eum.1_Missense_Mutation_p.H228Y	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	469					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGTAAAAATTCATCAGAAGAG	0.378000														43			86		0	0	0.003610	0	0
NFE2L1	4779	broad.mit.edu	37	17	46134780	46134780	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46134780C>T	uc002imz.4	+	4	1539	c.888C>T	c.(886-888)ctC>ctT	p.L296L	NFE2L1_uc002ina.4_Silent_p.L266L|NFE2L1_uc002inb.4_Silent_p.L266L|NFE2L1_uc010wle.2_Silent_p.L108L|NFE2L1_uc010wlf.2_Silent_p.L140L	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	296					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAACAACCTCTTGTCTCCTC	0.483000														93			22		0	0	0.002780	0	0
FOXN1	8456	broad.mit.edu	37	17	26856124	26856124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26856124G>A	uc010crm.3	+	4	910	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	FOXN1_uc002hbj.3_Missense_Mutation_p.G238S	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	238					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCGCCAGGTGGTGGCAGCTA	0.577000														56			10		0	0	0.000673	0	0
TRPC4	7223	broad.mit.edu	37	13	38211653	38211653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38211653G>A	uc010abx.3	-	10	2571	c.2336C>T	c.(2335-2337)tCg>tTg	p.S779L	TRPC4_uc010abv.3_Missense_Mutation_p.S354L|TRPC4_uc001uwt.3_Missense_Mutation_p.S774L|TRPC4_uc001uws.3_Missense_Mutation_p.S774L|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.S601L|TRPC4_uc010aby.3_Missense_Mutation_p.S709L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	774	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.S779L(1)|p.S774L(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)		TGAGTCTGCCGAATTTGAAGA	0.408000														32			16		0	0	0.007413	0	0
NRXN2	9379	broad.mit.edu	37	11	64375221	64375221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64375221G>A	uc021qkw.1	-	22	5048	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	NRXN2_uc021qkx.1_Missense_Mutation_p.P1459L|NRXN2_uc001oas.3_Missense_Mutation_p.P1459L|NRXN2_uc001oao.3_Missense_Mutation_p.P169L|NRXN2_uc001oap.3_Missense_Mutation_p.P483L|NRXN2_uc001oaq.3_Missense_Mutation_p.P1196L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1529					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTTTGCGGGGTGACAGGAG	0.711000														1			3		0	0	0.004672	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495974	45495974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:45495974C>T	uc002pai.3	+	13	1883	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	CLPTM1_uc010xxf.2_Missense_Mutation_p.P508L|CLPTM1_uc010xxg.2_Missense_Mutation_p.P596L|CLPTM1_uc021uvo.1_Silent_p.P107P	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	610					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCTGCCGCCCCCGTGGCCGAG	0.657000														237			89		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604011	54604011	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54604011C>T	uc003dhf.3	+	7	816	c.768C>T	c.(766-768)gaC>gaT	p.D256D	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.D162D|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	256	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D256D(2)|p.D256E(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCCGAAAGACGTGGTCATTT	0.428000														52			19		0	0	0.001216	0	0
HCN1	348980	broad.mit.edu	37	5	45262581	45262581	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:45262581G>A	uc003jok.3	-	7	2140	c.2115C>T	c.(2113-2115)agC>agT	p.S705S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	705						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.C704*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTACAGGAGGGCTGCAGACCG	0.642000														10			31		0	0	0.002836	0	0
OBSCN	84033	broad.mit.edu	37	1	228556502	228556502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228556502C>T	uc009xez.1	+	88	19891	c.19847C>T	c.(19846-19848)cCa>cTa	p.P6616L	OBSCN_uc001hsr.1_Missense_Mutation_p.P1245L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6616	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AACATCACCCCAGCAGAGCTG	0.562000														170			38		0	0	0.005524	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185802718C>T	uc002uph.3	+	3	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	865						intracellular	zinc ion binding	p.I865I(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCAAAAATCGAAAGGAACT	0.358000														23			17		0	0	0.007413	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956242	18956242	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18956242G>A	uc001mpg.3	-	0	308	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	30					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCACCGTGAGGCTCAAGG	0.552000														24			74		0	0	0.003610	0	0
LRRC40	55631	broad.mit.edu	37	1	70618143	70618143	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:70618143A>T	uc001der.2	-	11	1550	c.1412T>A	c.(1411-1413)cTt>cAt	p.L471H		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	471										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAATTTCTGAAGCACACATAA	0.289000														15			8		0	0	0.004482	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467820	35467820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:35467820C>T	uc021wir.1	+	0	323	c.323C>T	c.(322-324)aCc>aTc	p.T108I	SLC5A3_uc002yto.3_Missense_Mutation_p.T108I|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	108						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGGGTATATACCATGCCTGAA	0.453000														301			185		0	0	0.003610	0	0
CPD	1362	broad.mit.edu	37	17	28712108	28712108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28712108C>T	uc002hfb.2	+	1	905	c.848C>T	c.(847-849)tCa>tTa	p.S283L	CPD_uc010wbo.2_Missense_Mutation_p.S36L|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	283	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGCAAAACCTCAGATGATGAA	0.418000														68			23		0	0	0.002299	0	0
CA12	771	broad.mit.edu	37	15	63638846	63638846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:63638846G>A	uc002amc.3	-	2	325	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	CA12_uc002amd.3_Missense_Mutation_p.P57S|CA12_uc002ame.3_Intron	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	57					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AGGTCTATGGGGGACTGCAGC	0.547000														60			41		0	0	0.001951	0	0
SHANK2	22941	broad.mit.edu	37	11	70333233	70333233	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:70333233G>A	uc001oqc.3	-	20	3079	c.2967C>T	c.(2965-2967)atC>atT	p.I989I	SHANK2_uc010rqn.2_Silent_p.I465I|SHANK2_uc001opz.3_Silent_p.I460I|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.	676					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)			CCTGGGGGTCGATCTCCATGC	0.692000														45			15		0	0	0.003163	0	0
MACF1	23499	broad.mit.edu	37	1	39797699	39797699	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:39797699C>T	uc021olw.1	+	0	759	c.759C>T	c.(757-759)atC>atT	p.I253I	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1818	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGGCATCATAGACACTG	0.478000														15			14		0	0	0.003163	0	0
PDZD7	79955	broad.mit.edu	37	10	102782035	102782035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102782035G>A	uc001ksn.3	-	4	900	c.650C>T	c.(649-651)tCc>tTc	p.S217F	PDZD7_uc021pxc.1_Missense_Mutation_p.S217F|PDZD7_uc001kso.2_Missense_Mutation_p.S217F	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	217	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GAAGTCGTCGGAGGTTGTGTA	0.587000														33			10		0	0	0.000673	0	0
GABRB3	2562	broad.mit.edu	37	15	26793153	26793153	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:26793153C>T	uc001zbb.3	-	9	1480	c.1377G>A	c.(1375-1377)agG>agA	p.R459R	GABRB3_uc021sgg.1_Silent_p.R332R|GABRB3_uc021sgh.1_Silent_p.R318R|GABRB3_uc001zaz.3_Silent_p.R403R|GABRB3_uc001zba.3_Silent_p.R403R	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	403					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(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTCTGTTTCCTGTACTGGA	0.512000														32			33		0	0	0.003755	0	0
RGS9	8787	broad.mit.edu	37	17	63223473	63223473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:63223473C>T	uc002jfe.3	+	18	2176	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	RGS9_uc002jfd.3_Missense_Mutation_p.S655L|RGS9_uc002jfg.3_Missense_Mutation_p.S429L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	658					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACAGGAGAGTCGGGTGACCGG	0.582000														35			17		0	0	0.006122	0	0
TRIM38	10475	broad.mit.edu	37	6	25983887	25983887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:25983887C>T	uc003nfm.3	+	7	1805	c.1370C>T	c.(1369-1371)cCt>cTt	p.P457L	TRIM38_uc010jqd.3_Missense_Mutation_p.P93L	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	457	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAATATTCTCCTTTGTTTCTG	0.438000														34			61		0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959902	157959902	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:157959902G>A	uc003wno.3	-	5	752	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	PTPRN2_uc003wnp.3_Nonsense_Mutation_p.Q194*|PTPRN2_uc003wnq.3_Nonsense_Mutation_p.Q211*|PTPRN2_uc003wnr.3_Nonsense_Mutation_p.Q173*|PTPRN2_uc011kwa.2_Nonsense_Mutation_p.Q234*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	211						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCGGAGCTGGGTCCGGGAC	0.637000														58			28		0	0	0.001512	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627177	108627177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:108627177G>A	uc002tdv.3	+	8	1879	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	SLC5A7_uc010ywm.2_Missense_Mutation_p.E288K|SLC5A7_uc010fjj.3_Missense_Mutation_p.E535K|SLC5A7_uc010ywn.2_Missense_Mutation_p.E422K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	535					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)	TGTCAAAAATGAAAATATTAA	0.373000														18			15		0	0	0.003163	0	0
TTLL4	9654	broad.mit.edu	37	2	219617591	219617591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219617591C>T	uc002viy.3	+	16	3452	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	TTLL4_uc010zkl.1_Missense_Mutation_p.P863S|TTLL4_uc010fvx.3_Missense_Mutation_p.P964S|TTLL4_uc010zkm.1_Missense_Mutation_p.P231S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1028					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACGAATTTTTCCTTCTCATAT	0.453000														74			39		0	0	0.001951	0	0
SLA	6503	broad.mit.edu	37	8	134060148	134060148	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:134060148C>T	uc011ljd.2	-	3	477	c.399G>A	c.(397-399)aaG>aaA	p.K133K	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.K93K|SLA_uc011lje.2_Silent_p.K110K|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Silent_p.K110K|SLA_uc010mdy.1_Silent_p.K93K	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	93	SH2.					endosome	SH3/SH2 adaptor activity	p.R133H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GCTCCTCGGCCTTGTCTCTGC	0.587000														37			17		0	0	0.007413	0	0
SLC25A28	81894	broad.mit.edu	37	10	101372327	101372327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101372327G>A	uc001kpx.2	-	2	679	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	SLC25A28_uc021pwy.1_5'Flank|SLC25A28_uc021pwz.1_Missense_Mutation_p.H29Y|SLC25A28_uc001kpy.2_5'UTR	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	184					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.H184N(2)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GCTGCATCATGAAGTAATGTT	0.498000											OREG0020433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			31		0	0	0.003271	0	0
TRAK1	22906	broad.mit.edu	37	3	42264742	42264742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:42264742C>T	uc003cky.3	+	15	2591	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	TRAK1_uc011azi.2_Missense_Mutation_p.S771F	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	792					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACACCCACATCCTCCCCACCC	0.607000														13			18		0	0	0.007413	0	0
LMTK3	114783	broad.mit.edu	37	19	49001172	49001172	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49001172G>A	uc002pjk.3	-	11	3241	c.3241C>T	c.(3241-3243)Ctg>Ttg	p.L1081L		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTCTCTCCAGAGAGGTCTCT	0.706000														2			3		0	0	0.004672	0	0
TBC1D8	11138	broad.mit.edu	37	2	101666995	101666995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:101666995G>A	uc010fiv.3	-	4	826	c.695C>T	c.(694-696)tCc>tTc	p.S232F	TBC1D8_uc010yvw.2_Missense_Mutation_p.S247F|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	232					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGAACATGGAGAAGTCACG	0.512000														18			4		0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20975658	20975658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20975658G>A	uc010vbe.2	-	52	9548	c.9548C>T	c.(9547-9549)cCa>cTa	p.P3183L	DNAH3_uc010vbd.2_Missense_Mutation_p.P618L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3183	AAA 5 (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)		GGCAACTTCTGGGAGGTAATG	0.478000														35			36		0	0	0.003755	0	0
OR5C1	392391	broad.mit.edu	37	9	125551739	125551739	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125551739G>A	uc011lzd.2	+	0	528	c.528G>A	c.(526-528)cgG>cgA	p.R176R		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCCGCTCCCGGAAGATCAATA	0.567000														24			13		0	0	0.002450	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035215	184035215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184035215C>T	uc003fnp.3	+	4	525	c.254C>T	c.(253-255)tCc>tTc	p.S85F	EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.S92F|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.S92F|EIF4G1_uc003fnq.3_5'UTR|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.S45F|EIF4G1_uc010hxz.2_5'UTR|EIF4G1_uc003fnv.4_Missense_Mutation_p.S85F|EIF4G1_uc003fnw.3_Missense_Mutation_p.S92F|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	85					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGCTGGATCCCAAGTAATG	0.657000														59			25		0	0	0.004656	0	0
TTC3	7267	broad.mit.edu	37	21	38525529	38525529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:38525529G>A	uc002yvz.3	+	26	2797	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	TTC3_uc011aee.1_Missense_Mutation_p.E588K|TTC3_uc002ywa.3_Missense_Mutation_p.E898K|TTC3_uc002ywb.3_Missense_Mutation_p.E898K|TTC3_uc010gnf.3_Missense_Mutation_p.E663K|TTC3_uc002ywc.3_Missense_Mutation_p.E588K|TTC3_uc011aed.1_Missense_Mutation_p.E588K	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	898					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGAGCTTAAAGAAGTGGAGCC	0.363000														72			14		0	0	0.001855	0	0
OTOA	146183	broad.mit.edu	37	16	21698938	21698938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21698938C>T	uc002djh.3	+	6	605	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R123W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	202					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCGGCTCCCTCGGGACCTGCG	0.542000														10			15		0	0	0.004007	0	0
FCRL4	83417	broad.mit.edu	37	1	157559215	157559215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157559215G>A	uc001fqw.3	-	2	222	c.86C>T	c.(85-87)cCt>cTt	p.P29L	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGTCCATGGAGGATGGACGGA	0.493000														13			35		0	0	0.003271	0	0
ANKMY1	51281	broad.mit.edu	37	2	241492400	241492400	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:241492400G>A	uc010fzd.1	-	3	536	c.411C>T	c.(409-411)ttC>ttT	p.F137F	ANKMY1_uc002vzb.1_Silent_p.F137F|ANKMY1_uc002vzc.1_Silent_p.F137F|ANKMY1_uc002vyz.1_Silent_p.F48F|ANKMY1_uc002vza.1_Silent_p.F137F|ANKMY1_uc002vzd.1_Silent_p.F137F|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Silent_p.F39F|ANKMY1_uc002vzf.3_Silent_p.F39F	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	48							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGTGCCCGTGAAACTGGAGC	0.552000														21			9		0	0	0.006214	0	0
RIPK3	11035	broad.mit.edu	37	14	24806151	24806151	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24806151C>T	uc001wpb.3	-	9	1486	c.1276_splice	c.e9-1	p.G426_splice	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Splice_Site_p.G226_splice|RIPK3_uc010alq.3_Splice_Site|RIPK3_uc010toi.2_Splice_Site_p.G205_splice	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	426					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTCTCAGCCCCCTGCAAACAG	0.542000														91			29		0	0	0.002445	0	0
KCNG4	93107	broad.mit.edu	37	16	84270818	84270818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84270818G>A	uc010voc.2	-	1	395	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	KCNG4_uc002fhu.1_Missense_Mutation_p.R92W	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGTAGCTCCGACAGAGCCTG	0.612000														49			16		0	0	0.004990	0	0
TNXB	7148	broad.mit.edu	37	6	32041690	32041690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32041690G>A	uc003nzl.2	-	11	4617	c.4415C>T	c.(4414-4416)cCg>cTg	p.P1472L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1559	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCTCCAGCGGGGACTCAGT	0.557000														406			159		0	0	0.003610	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943896	232943896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:232943896C>T	uc001hvh.2	+	0	3259	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	901										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AAATAAACTTCCAGGATACAC	0.289000														9			21		0	0	0.001882	0	0
NGFR	4804	broad.mit.edu	37	17	47583706	47583706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:47583706C>T	uc002ioz.4	+	2	379	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	85					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		p.P85L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCGTGCAAGCCGTGCACCGAG	0.677000														26			17		0	0	0.006122	0	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235600750C>T	uc010pxr.1	+	12	1353	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.I359I|TBCE_uc001hxa.1_Silent_p.I359I|TBCE_uc001hxb.1_Silent_p.I246I	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000														44			10		0	0	0.001855	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806465	97806465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97806465C>T	uc011bgs.2	+	0	449	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTAAGTATTTCATATGTAATT	0.388000														120			38		0	0	0.007835	0	0
FAT4	79633	broad.mit.edu	37	4	126411466	126411466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:126411466G>A	uc003ifj.4	+	16	13489	c.13489G>A	c.(13489-13491)Gag>Aag	p.E4497K	FAT4_uc011cgp.2_Missense_Mutation_p.E2738K|FAT4_uc003ifi.1_Missense_Mutation_p.E1974K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4497					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						GGGCCCTGAAGAGATCTCTCT	0.602000														38			16		0	0	0.006122	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616481	43616481	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:43616481G>A	uc003bdt.2	-	13	1789	c.1662C>T	c.(1660-1662)atC>atT	p.I554I		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	554					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTTTGTCTCGATCTCAAACT	0.607000														110			23		0	0	0.005443	0	0
DOK3	79930	broad.mit.edu	37	5	176931115	176931115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176931115G>A	uc003mhk.3	-	5	1365	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			AGCAGCCGCCGGTACTGGGCC	0.682000														5			18		0	0	0.001216	0	0
ADCK4	79934	broad.mit.edu	37	19	41219975	41219975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41219975C>T	uc002oor.2	-	3	588	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	ADCK4_uc002ooq.2_Missense_Mutation_p.G96R|ADCK4_uc002oos.2_Missense_Mutation_p.G96R	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	96						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CACCTACCCCCAAAGTTGGCC	0.537000														70			27		0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9074217	9074217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9074217G>A	uc002mkp.3	-	2	13433	c.13229C>T	c.(13228-13230)cCt>cTt	p.P4410L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4412	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						TGTCAAGTAAGGCATGGTTGA	0.473000														122			46		0	0	0.003610	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985654	142985654	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142985654T>A	uc003evn.3	-	15	2037	c.1828A>T	c.(1828-1830)Aaa>Taa	p.K610*		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	610					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGTGAAGCTTTCTGGTCCAGA	0.512000														52			45		0	0	0.003610	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72057	72057	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000209.1:72057C>T	uc002qui.2	+	2	218	c.207C>T	c.(205-207)ccC>ccT	p.P69P	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.P66P|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	74	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCCACGTTCCCATCTTCCATG	0.517000														67			24		0	0	0.003954	0	0
CABP4	57010	broad.mit.edu	37	11	67223165	67223165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67223165G>A	uc001olo.3	+	0	348	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	91					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCCTGGGCCGGCCTCTTCTCG	0.682000														4			7		0	0	0.003080	0	0
GNAT3	346562	broad.mit.edu	37	7	80091847	80091847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:80091847C>T	uc011kgu.2	-	5	691	c.691G>A	c.(691-693)Gac>Aac	p.D231N	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	231					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						AGGACCATGTCATAGGCACTA	0.403000														8			126		0	0	0.003610	0	0
C17orf28	283987	broad.mit.edu	37	17	72954853	72954853	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72954853G>A	uc002jmj.4	-	9	1304	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C17orf28_uc010wrs.2_Silent_p.F184F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	385						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					CGAAGAAGAGGAATTTCTAGG	0.617000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			14		0	0	0.002450	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003599	119003599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:119003599C>T	uc001ldd.2	+	2	402	c.239C>T	c.(238-240)tCc>tTc	p.S80F	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	80					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCATCTTCTCCTATTATGAT	0.507000														38			11		0	0	0.000673	0	0
CPA1	1357	broad.mit.edu	37	7	130023288	130023288	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:130023288C>T	uc003vpx.3	+	4	612	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CPA1_uc011kpf.1_Silent_p.S92S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	180	Substrate binding.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCATCCATTCCCGGGAGTGGG	0.617000														52			17		0	0	0.001882	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153177437C>T	uc001fbl.3	+	1	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F	LELP1_uc021ozv.1_Missense_Mutation_p.S85F	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	85	Cys/Pro-rich.							p.S85S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000														27			6		0	0	0.001168	0	0
HTR5A	3361	broad.mit.edu	37	7	154862937	154862937	+	Missense_Mutation	SNP	G	A	A	rs141719500		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:154862937G>A	uc003wlu.1	+	0	392	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	LOC100128264_uc003wlt.2_Missense_Mutation_p.P26L|LOC100128264_uc011kvt.1_Missense_Mutation_p.P26L	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	110						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGCAGCTAGGTCGGAGGCT	0.662000														42			16		0	0	0.004007	0	0
IL13RA2	3598	broad.mit.edu	37	X	114245314	114245314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:114245314G>A	uc004epx.3	-	5	724	c.599C>T	c.(598-600)cCc>cTc	p.P200L	IL13RA2_uc010nqd.1_Missense_Mutation_p.P200L|IL13RA2_uc022cdb.1_Missense_Mutation_p.P200L	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	200	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CTCCAAATAGGGAAATCTGCA	0.368000														6			41		0	0	0.006230	0	0
GPR45	11250	broad.mit.edu	37	2	105858877	105858877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:105858877G>A	uc002tco.1	+	0	678	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	188						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						GGGCTACACGGAGCTCCCCGC	0.682000														7			13		0	0	0.001855	0	0
GORASP2	26003	broad.mit.edu	37	2	171804879	171804879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171804879G>A	uc002ugk.3	+	1	898	c.83G>A	c.(82-84)gGa>gAa	p.G28E	GORASP2_uc002ugj.3_5'UTR|GORASP2_uc010zdl.2_Missense_Mutation_p.G40E|GORASP2_uc010zdm.2_5'UTR|GORASP2_uc002ugl.3_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	28	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AATTCCCCAGGACACAGAGCT	0.323000														24			14		0	0	0.006122	0	0
C19orf44	84167	broad.mit.edu	37	19	16611668	16611668	+	Missense_Mutation	SNP	C	T	T	rs146198206		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16611668C>T	uc002neh.1	+	1	138	c.65C>T	c.(64-66)tCc>tTc	p.S22F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S22F|C19orf44_uc002neg.3_Missense_Mutation_p.S22F|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	22										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGTGATGTTTCCTTGGAAGAT	0.408000														86			27		0	0	0.001512	0	0
RNF175	285533	broad.mit.edu	37	4	154649477	154649477	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154649477A>T	uc003int.3	-	3	656	c.283T>A	c.(283-285)Tat>Aat	p.Y95N	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	95						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATCGTGAAATATAAGGGGACA	0.448000														46			64		0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	74978046	74978046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74978046G>A	uc001xqa.3	-	18	3317	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	977	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGGTACCGGGGTGACGGCA	0.567000														17			31		0	0	0.004289	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140214425C>T	uc003lhq.2	+	0	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	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_uc011dac.2_Missense_Mutation_p.P153S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P153S(2)		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)			CTCTCGGTTTCCACTAGAGGG	0.557000														29			32		0	0	0.004289	0	0
CSTF1	1477	broad.mit.edu	37	20	54974321	54974321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:54974321C>T	uc002xxl.1	+	4	1144	c.944C>T	c.(943-945)tCc>tTc	p.S315F	CSTF1_uc002xxm.1_Missense_Mutation_p.S315F|CSTF1_uc002xxn.1_Missense_Mutation_p.S315F	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	315					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GCCATTTTTTCCAAAAATTCT	0.403000														66			19		0	0	0.007413	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348878	122348878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:122348878C>T	uc001lev.1	+	6	1032	c.680C>T	c.(679-681)cCt>cTt	p.P227L	PPAPDC1A_uc009xzl.1_Missense_Mutation_p.P164L|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.L77F|PPAPDC1A_uc001ley.1_Missense_Mutation_p.P106L	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	227					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAGCACTATCCTCCTCTGGCC	0.522000														87			95		0	0	0.003610	0	0
IRX1	79192	broad.mit.edu	37	5	3599525	3599525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:3599525C>T	uc003jde.3	+	1	515	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAATCCCTACCCCACCAAGGG	0.642000														76			16		0	0	0.004990	0	0
RGS12	6002	broad.mit.edu	37	4	3319347	3319348	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:3319347_3319348CC>TT	uc003ggw.3	+	1	2354_2355	c.1450_1451CC>TT	c.(1450-1452)ccc>TTc	p.P484F	RGS12_uc003ggu.2_Missense_Mutation_p.P484F|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.P484F|RGS12_uc003ggx.1_Missense_Mutation_p.P484F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	484						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAAGGGAGCCCCCCATTTGAG	0.683000														34			23		0	0	0.004672	0	0
LTBP1	4052	broad.mit.edu	37	2	33623611	33623611	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:33623611G>A	uc021vft.1	+	33	5188	c.5165G>A	c.(5164-5166)tGa>tAa	p.*1722*	LTBP1_uc002rou.3_Silent_p.*1396*|LTBP1_uc002rov.3_Silent_p.*1343*|LTBP1_uc010ymz.2_Silent_p.*1354*|LTBP1_uc010yna.2_Silent_p.*1301*|LTBP1_uc010ynb.2_Silent_p.*620*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	0					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACCTGGAGTGAAACAGAATC	0.448000														24			31		0	0	0.002836	0	0
C3orf23	285343	broad.mit.edu	37	3	44408953	44408953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44408953C>T	uc003cnd.4	+	4	752	c.325C>T	c.(325-327)Cga>Tga	p.R109*	C3orf23_uc010him.3_Nonsense_Mutation_p.R109*|C3orf23_uc003cne.4_Intron	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	109						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TCTAGGATTTCGAGCAGTCAA	0.303000														39			21		0	0	0.003330	0	0
FAM65C	140876	broad.mit.edu	37	20	49218928	49218928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49218928C>T	uc010zyt.2	-	12	1591	c.1340G>A	c.(1339-1341)cGg>cAg	p.R447Q	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R443Q|FAM65C_uc002xvn.1_Missense_Mutation_p.R443Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	443										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGTCCTCCCGAGCCTCCTC	0.662000														36			21		0	0	0.002299	0	0
FBRS	64319	broad.mit.edu	37	16	30680858	30680858	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30680858C>T	uc002dzd.4	+	11	1538	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	FBRS_uc002dzc.4_Silent_p.L337L	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	425										ovary(1)	1			Colorectal(24;0.103)			CTCACCTTCTCAGCAAGACCC	0.706000														96			97		0	0	0.003610	0	0
LILRB5	10990	broad.mit.edu	37	19	54760628	54760628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54760628G>A	uc010yer.1	-	2	190	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P27S|LILRB5_uc002qez.3_Missense_Mutation_p.P27S|LILRB5_uc002qex.3_Missense_Mutation_p.P27S|LILRB5_uc002qfa.1_Missense_Mutation_p.P17S|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGGTTTGGGGAGGGTGCCT	0.622000														45			9		0	0	0.000673	0	0
MALL	7851	broad.mit.edu	37	2	110849249	110849249	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:110849249G>A	uc002tfk.3	-	1	978	c.204C>T	c.(202-204)ctC>ctT	p.L68L	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	68	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding	p.F67L(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TCAAGGAGATGAGAAACGAGG	0.468000														61			11		0	0	0.001855	0	0
KAZN	23254	broad.mit.edu	37	1	15370527	15370527	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15370527C>T	uc001avm.4	+	3	879	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	KAZN_uc009vog.1_Silent_p.L200L|KAZN_uc001avo.2_Silent_p.L194L|KAZN_uc001avp.2_Silent_p.L106L|KAZN_uc001avq.2_Silent_p.L106L|KAZN_uc001avr.2_Silent_p.L103L	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	200	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGAGAAGGACCTGCTGGAGCG	0.657000														14			22		0	0	0.002780	0	0
TRPV6	55503	broad.mit.edu	37	7	142572893	142572893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142572893C>T	uc003wbx.2	-	8	1376	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	TRPV6_uc003wbw.1_Missense_Mutation_p.D169N|TRPV6_uc010lou.1_Missense_Mutation_p.D254N	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	383					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCCGGATATCGTCCTTAGGG	0.572000														110			33		0	0	0.004878	0	0
C19orf40	91442	broad.mit.edu	37	19	33464112	33464112	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:33464112A>G	uc002nud.4	+	1	128	c.10A>G	c.(10-12)Aac>Gac	p.N4D	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	4					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CATGGAAAAGAACCCCCCTGA	0.607000								Direct reversal of damage						58			21		0	0	0.002299	0	0
FGF8	2253	broad.mit.edu	37	10	103530315	103530315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103530315G>A	uc001ktp.2	-	5	575	c.473C>T	c.(472-474)gCg>gTg	p.A158V	FGF8_uc001kts.2_Missense_Mutation_p.A129V|FGF8_uc009xwr.2_Missense_Mutation_p.A65V|FGF8_uc001ktq.2_Missense_Mutation_p.A169V|FGF8_uc001ktr.2_Missense_Mutation_p.A140V|FGF8_uc021pxg.1_Missense_Mutation_p.A65V	NM_033164	NP_001193318	P55075	FGF8_HUMAN	Homo sapiens fibroblast growth factor 8 (androgen-induced) (FGF8), transcript variant E, mRNA.	158					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ATTCTGCAGCGCTGTGTAGTT	0.622000														41			10		0	0	0.000978	0	0
EYA4	2070	broad.mit.edu	37	6	133833883	133833883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:133833883G>A	uc011ecs.2	+	14	1640	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	EYA4_uc011ecq.2_Missense_Mutation_p.D382N|EYA4_uc011ecr.2_Missense_Mutation_p.D388N|EYA4_uc003qec.4_Missense_Mutation_p.D436N|EYA4_uc003qed.4_Missense_Mutation_p.D436N|EYA4_uc003qee.4_Missense_Mutation_p.D413N|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	436					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	p.N442D(1)		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)		TCATATAGATGATGTTTCCTC	0.368000														16			36		0	0	0.005524	0	0
NLRP3	114548	broad.mit.edu	37	1	247587382	247587382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247587382G>A	uc001icr.3	+	4	775	c.637G>A	c.(637-639)Gat>Aat	p.D213N	NLRP3_uc001ics.3_Missense_Mutation_p.D213N|NLRP3_uc001icu.3_Missense_Mutation_p.D213N|NLRP3_uc001icw.3_Missense_Mutation_p.D213N|NLRP3_uc001icv.3_Missense_Mutation_p.D213N|NLRP3_uc010pyw.2_Missense_Mutation_p.D211N|NLRP3_uc001ict.1_Missense_Mutation_p.D211N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	213					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGACCCCGATGATGAGCATTC	0.587000														41			15		0	0	0.003163	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597196	18597196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:18597196C>T	uc002dfg.3	+	6	760	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ABCC6P1_uc010vam.2_Missense_Mutation_p.S130F					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		AGAGAAAACTCCTCAGAAGAA	0.557000														21			33		0	0	0.001951	0	0
TTC25	83538	broad.mit.edu	37	17	40094955	40094955	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40094955G>A	uc002hyj.4	+	5	860	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TTC25_uc021txp.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	257						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGATGCAAGAGAAATGGCTGC	0.547000														104			51		0	0	0.003610	0	0
TGM1	7051	broad.mit.edu	37	14	24724013	24724013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24724013G>A	uc001wod.3	-	12	2069	c.1945C>T	c.(1945-1947)Cca>Tca	p.P649S	TGM1_uc010tog.2_Missense_Mutation_p.P207S	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	649					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TAGGCCACTGGCATGGTCACA	0.632000														20			22		0	0	0.001882	0	0
THEMIS	387357	broad.mit.edu	37	6	128135035	128135035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128135035C>T	uc011ebt.2	-	3	900	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	THEMIS_uc010kfa.3_Missense_Mutation_p.E154K|THEMIS_uc021zfa.1_Missense_Mutation_p.E251K|THEMIS_uc010kfb.3_Missense_Mutation_p.E216K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	251	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTGACTTCGACATCTAGA	0.348000														16			61		0	0	0.003610	0	0
GRHL2	79977	broad.mit.edu	37	8	102661702	102661702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:102661702C>T	uc010mbu.3	+	13	2003	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	558						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGAAGTCTCCCACAGTGAAG	0.522000														28			4		0	0	0.001168	0	0
MMP16	4325	broad.mit.edu	37	8	89086840	89086840	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89086840G>A	uc003yeb.4	-	6	1497	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	405	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCTTTAAAGAACACAAAAT	0.393000														24			18		0	0	0.001882	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815015	106815015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:106815015G>A	uc003ymd.3	+	7	2728	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	ZFPM2_uc011lhs.2_Missense_Mutation_p.R633Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	902					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	p.R902*(1)		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)			GAAAGCGAACGAAACAGCCCT	0.458000														13			7		0	0	0.003080	0	0
MDN1	23195	broad.mit.edu	37	6	90482425	90482425	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:90482425G>A	uc003pnn.1	-	13	2066	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_uc003pno.1_Silent_p.F68F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	650					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)		GTGTAGCAGCGAAAGTGAACT	0.498000														37			17		0	0	0.001216	0	0
ATG2A	23130	broad.mit.edu	37	11	64669577	64669578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64669577_64669578GG>AA	uc001obx.3	-	28	4090_4091	c.3975_3976CC>TT	c.(3973-3978)ccccct>ccTTct	p.P1326S	ATG2A_uc001obw.3_Missense_Mutation_p.P91S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1326							protein binding	p.P1326fs*12(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGTGGTGAAGGGGGTGGGGCCC	0.624000														72			21		0	0	0.004672	0	0
PHLPP1	23239	broad.mit.edu	37	18	60646130	60646130	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:60646130C>T	uc021ule.1	+	16	4865	c.4620C>T	c.(4618-4620)ttC>ttT	p.F1540F		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1540					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						CTAGCGCCTTCTCCGACAACG	0.642000														8			3		0	0	0.000248	0	0
MRVI1	10335	broad.mit.edu	37	11	10655561	10655561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10655561C>T	uc010rcc.1	-	2	669	c.283G>A	c.(283-285)Gat>Aat	p.D95N	MRVI1_uc010rcb.1_Missense_Mutation_p.D86N|MRVI1_uc001miw.2_Missense_Mutation_p.D86N|MRVI1_uc001mix.3_Intron|MRVI1_uc001miz.2_Missense_Mutation_p.D4N|MRVI1_uc010rcd.1_Missense_Mutation_p.D95N|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	86					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAAGTGGCATCCCCAGTCAGG	0.507000														4			11		0	0	0.000978	0	0
OR2G6	391211	broad.mit.edu	37	1	248685694	248685694	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248685694C>T	uc001ien.1	+	0	747	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTGGTCATCATTTTCTATG	0.453000														86			20		0	0	0.001216	0	0
EEPD1	80820	broad.mit.edu	37	7	36327374	36327374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:36327374G>A	uc003tfa.3	+	5	1943	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	435					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GACCCTACAGGAAACCCTGAA	0.562000														115			21		0	0	0.001882	0	0
NAT14	57106	broad.mit.edu	37	19	55997951	55997951	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55997951C>T	uc002qle.2	+	2	366	c.249C>T	c.(247-249)gcC>gcT	p.A83A	SSC5D_uc021vbw.1_5'Flank|SSC5D_uc002qlg.4_5'Flank	NM_020378	NP_065111	Q8WUY8	NAT14_HUMAN	Homo sapiens N-acetyltransferase 14 (GCN5-related, putative) (NAT14), mRNA.	83	N-acetyltransferase.				positive regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	integral to membrane|nucleus	DNA binding|N-acetyltransferase activity	p.R82Q(1)		central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		GCCTGCGGGCCCGATGGGGCT	0.756000														10			6		0	0	0.001984	0	0
SACS	26278	broad.mit.edu	37	13	23915461	23915461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23915461G>A	uc001uon.2	-	9	3143	c.2554C>T	c.(2554-2556)Ctt>Ttt	p.L852F	SACS_uc001uoo.2_Missense_Mutation_p.L705F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	852					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTTTTTAAGGACAAACCCT	0.348000														36			12		0	0	0.001368	0	0
SNAP47	116841	broad.mit.edu	37	1	227968364	227968364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227968364G>A	uc001hrf.2	+	4	1799	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	SNAP47_uc001hra.2_Missense_Mutation_p.R220K	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	462	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGGATGAAGAGGCTGACCTAG	0.617000														47			13		0	0	0.002450	0	0
TRPC6	7225	broad.mit.edu	37	11	101342876	101342876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:101342876C>T	uc001pgk.4	-	7	2622	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TRPC6_uc009ywy.3_Missense_Mutation_p.E617K|TRPC6_uc009ywz.1_Missense_Mutation_p.E678K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	733					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E733K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTCAATTTCCTGGAATGAA	0.343000														83			20		0	0	0.001882	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044547	75044547	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75044547C>T	uc002ayr.1	+	4	1189	c.1125C>T	c.(1123-1125)acC>acT	p.T375T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	375					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCCTGGAGACCTTCCGACACT	0.597000														142			138		0	0	0.003610	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766245	27766245	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:27766245C>T	uc011mjy.2	+	0	1320	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TCAAGAAATTCACTCCTCATC	0.428000														19			14		0	0	0.002450	0	0
C9orf47	286223	broad.mit.edu	37	9	91606022	91606022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91606022G>A	uc004aqd.3	+	0	245	c.112G>A	c.(112-114)Gac>Aac	p.D38N	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.D38N	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	38						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCAGACCTCGGACCTGGTTCC	0.602000														8			5		0	0	0.001168	0	0
LOC442028	442028	broad.mit.edu	37	2	95601090	95601090	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:95601090C>T	uc021vlc.1	-	1		c.159G>A			LOC442028_uc002stv.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC442028 (LOC442028), non-coding RNA.																		CTTCAAGACTCTCTTGTAAAT	0.353000														13			14		0	0	0.003163	0	0
AGBL1	123624	broad.mit.edu	37	15	86687022	86687022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:86687022G>A	uc002blz.1	+	1	150	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	24					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCTCCTCCAGACTATGACAT	0.542000														63			17		0	0	0.006122	0	0
SYN1	6853	broad.mit.edu	37	X	47466349	47466349	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47466349G>A	uc004die.3	-	2	651	c.522C>T	c.(520-522)gtC>gtT	p.V174V	SYN1_uc004did.3_Silent_p.V174V	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	174	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTCACCGCACGACCTTCACCC	0.507000														2			14		0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141752100	141752100	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:141752100A>T	uc003vwy.3	+	24	2866	c.2812A>T	c.(2812-2814)Att>Ttt	p.I938F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	938					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGGTTGCCATTATCACAGA	0.358000														4			21		0	0	0.002299	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953616	45953616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45953616G>A	uc002zfe.1	-	2	560	c.494C>T	c.(493-495)tCc>tTc	p.S165F	TSPEAR_uc010gpv.1_Missense_Mutation_p.S97F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	165	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GACGCCTGCGGACACAGCCAG	0.692000														25			6		0	0	0.001168	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451759	48451759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48451759G>A	uc003csw.2	-	30	5821	c.5551C>T	c.(5551-5553)Ccc>Tcc	p.P1851S	PLXNB1_uc003cst.2_Missense_Mutation_p.P301S|PLXNB1_uc003csu.2_Missense_Mutation_p.P1668S|PLXNB1_uc003csx.2_Missense_Mutation_p.P1851S	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1851					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGAGGCAGGGGACGAGGGCC	0.637000														18			5		0	0	0.004482	0	0
C15orf27	123591	broad.mit.edu	37	15	76496495	76496495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76496495G>A	uc002bbq.3	+	10	1590	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	C15orf27_uc010bkp.3_Missense_Mutation_p.E295K|C15orf27_uc002bbr.3_Missense_Mutation_p.E295K|C15orf27_uc002bbs.3_Missense_Mutation_p.E157K	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	479						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCGAGCTGGAACACAGGGT	0.642000														132			19		0	0	0.001882	0	0
MYO3A	53904	broad.mit.edu	37	10	26377302	26377302	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26377302C>T	uc001isn.2	+	14	1890	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	MYO3A_uc009xko.1_Silent_p.L510L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.L510L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	510	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGAATATCTCCTGGAAAAAT	0.348000														29			7		0	0	0.004482	0	0
PALLD	23022	broad.mit.edu	37	4	169812165	169812165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:169812165G>A	uc011cjx.2	+	10	2268	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.R686Q|PALLD_uc003irv.3_Missense_Mutation_p.R304Q|PALLD_uc003irw.3_Missense_Mutation_p.R199Q	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	910	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GACCTGGAACGAAAACTTCGC	0.473000									Pancreatic Cancer, Familial Clustering of					25			28		0	0	0.006320	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784215	90784215	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:90784215C>T	uc002bpc.3	+	3	254	c.75C>T	c.(73-75)acC>acT	p.T25T	GDPGP1_uc021suh.1_Silent_p.T25T	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	25					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCAGGCAAACCATTCCTGACT	0.483000														159			34		0	0	0.006230	0	0
THG1L	54974	broad.mit.edu	37	5	157161590	157161590	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:157161590C>T	uc003lxd.3	+	2	501	c.375C>T	c.(373-375)ttC>ttT	p.F125F	THG1L_uc011ddu.2_Intron	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	125					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGTAAGTTCATGACTCACG	0.458000														155			45		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38213432	38213432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38213432C>T	uc010abx.3	-	8	2334	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	TRPC4_uc010abv.3_Missense_Mutation_p.R275Q|TRPC4_uc001uwt.3_Missense_Mutation_p.R695Q|TRPC4_uc001uws.3_Missense_Mutation_p.R695Q|TRPC4_uc010tey.2_Missense_Mutation_p.R695Q|TRPC4_uc010abw.3_Missense_Mutation_p.R522Q|TRPC4_uc010aby.3_Missense_Mutation_p.R630Q	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	695	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.R695Q(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)		ATCAGCAGCTCGCCTCTGAAA	0.308000														34			20		0	0	0.004656	0	0
DZIP1	22873	broad.mit.edu	37	13	96251628	96251628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:96251628C>T	uc001vmk.3	-	14	2380	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	DZIP1_uc001vmj.3_5'UTR|DZIP1_uc001vml.3_Missense_Mutation_p.E491K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	510					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCTTTTTCTTCCTCTGAAAGT	0.373000														21			17		0	0	0.004990	0	0
LBP	3929	broad.mit.edu	37	20	36999435	36999435	+	Silent	SNP	C	T	T	rs146457097	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:36999435C>T	uc002xic.1	+	10	1238	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	401					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCACTGGGTTCCTGAAGCCAG	0.527000														232			52		0	0	0.003610	0	0
LOC494141	494141	broad.mit.edu	37	11	18231403	18231403	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18231403C>T	uc009yhh.3	+	1		c.427C>T			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AGAAGGTCCTCTTTCCACAAC	0.443000														13			28		0	0	0.002096	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132744	52132744	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52132744G>A	uc002pxe.3	-	2	706	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	189	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTCTCGGGGTCCAGGGGGC	0.657000														6			12		0	0	0.006122	0	0
SMPD3	55512	broad.mit.edu	37	16	68404844	68404844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68404844G>A	uc002ewa.3	-	2	1663	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	SMPD3_uc010cfe.3_Missense_Mutation_p.P414L|SMPD3_uc010vlh.2_Missense_Mutation_p.P414L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	414					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.P414L(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTCCATGATGGGGTAGCGGCT	0.577000														16			9		0	0	0.004482	0	0
BMP6	654	broad.mit.edu	37	6	7727831	7727831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7727831G>A	uc003mxu.4	+	0	821	c.643G>A	c.(643-645)Gtc>Atc	p.V215I		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	215					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCGGACATGGTCATGAGCTT	0.622000														27			8		0	0	0.000673	0	0
OR9K2	441639	broad.mit.edu	37	12	55523961	55523961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55523961G>A	uc010spe.2	+	0	409	c.409G>A	c.(409-411)Gga>Aga	p.G137R		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGACTGAGGGATTTCTCCT	0.498000														274			19		0	0	0.007413	0	0
COL5A1	1289	broad.mit.edu	37	9	137707430	137707431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:137707430_137707431GG>AA	uc004cfe.3	+	50	4405_4406	c.4023_4024GG>AA	c.(4021-4026)gtgggt>gtAAgt	p.G1342S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1342	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCCCAGTGGGTTTTCCTGG	0.619000														10			5		0	0	0.004672	0	0
HLX	3142	broad.mit.edu	37	1	221054565	221054566	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:221054565_221054566CC>TT	uc001hmv.4	+	1	1079_1080	c.622_623CC>TT	c.(622-624)ccc>TTc	p.P208F		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	208					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGGTGGGCGGCCCGCCGGGGTG	0.584000														52			58		0	0	0.004672	0	0
TAP2	6891	broad.mit.edu	37	6	32797178	32797178	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32797178G>A	uc011dqf.1	-	11	2054	c.1932_splice	c.e11+1	p.A644_splice	TAP2_uc003ocb.1_Splice_Site_p.A644_splice|TAP2_uc003occ.3_Splice_Site_p.A644_splice|TAP2_uc003ocd.3_Splice_Site_p.A644_splice	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	644	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGTACTCACGGCCTGCTCGCA	0.622000														4			12		0	0	0.001855	0	0
WWP2	11060	broad.mit.edu	37	16	69965483	69965483	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69965483G>A	uc002exu.1	+	16	1682	c.1593_splice	c.e16+1	p.Q531_splice	WWP2_uc002exv.1_Splice_Site_p.Q531_splice|WWP2_uc010vlm.1_Splice_Site_p.Q415_splice|WWP2_uc010vln.1_Splice_Site_p.Q149_splice|WWP2_uc002exw.1_Splice_Site_p.Q92_splice|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	531					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTCCAACAGGTTAGATCAT	0.502000														58			21		0	0	0.006320	0	0
VWA7	80737	broad.mit.edu	37	6	31744007	31744007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31744007G>A	uc011dog.2	-	2	485	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	83						extracellular region											TCATCAGCAAGGAGTGTTCGA	0.582000														171			247		0	0	0.003610	0	0
SCN2A	6326	broad.mit.edu	37	2	166201295	166201295	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166201295C>T	uc002udc.3	+	15	3083	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	SCN2A_uc002udd.3_Silent_p.S931S|SCN2A_uc002ude.3_Silent_p.S931S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	931					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTCCACTCCTTCCTGATCG	0.498000														61			31		0	0	0.001786	0	0
STIM2	57620	broad.mit.edu	37	4	27019467	27019467	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:27019467C>G	uc003gsg.4	+	10	2152	c.1624C>G	c.(1624-1626)Cgg>Ggg	p.R542G	STIM2_uc003gsh.4_Missense_Mutation_p.R550G|STIM2_uc010iex.3_Missense_Mutation_p.R542G|STIM2_uc010iey.3_Missense_Mutation_p.R253G	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	542	His/Pro-rich.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTCACACCCTCGGCACCCTCA	0.607000														73			56		0	0	0.003610	0	0
MSI1	4440	broad.mit.edu	37	12	120784124	120784124	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:120784124G>A	uc001tye.1	-	13	924	c.860_splice	c.e13-1	p.G287_splice		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	287					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGTGAGAGCCTGGCAACC	0.687000														1			5		0	0	0.001168	0	0
ERN2	10595	broad.mit.edu	37	16	23706640	23706640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:23706640C>T	uc002dma.4	-	14	1994	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	ERN2_uc010bxp.3_Missense_Mutation_p.E557K	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	561	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTGAACTTCCCGCCGAACC	0.642000														6			4		0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82582033C>T	uc003uhx.2	-	4	8525	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_uc003uhv.2_Missense_Mutation_p.D2746N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2677					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						GCAGAAAGATCAATACATTTA	0.348000														49			5		0	0	0.000602	0	0
MYO15A	51168	broad.mit.edu	37	17	18040975	18040975	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18040975C>T	uc021trm.1	+	14	5076	c.4857C>T	c.(4855-4857)atC>atT	p.I1619I	MYO15A_uc021trl.1_Silent_p.I1617I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1619	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAACAAGATCGTCTTCCAGG	0.517000														37			8		0	0	0.000673	0	0
PGK2	5232	broad.mit.edu	37	6	49753821	49753821	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:49753821C>T	uc003ozu.3	-	0	1233	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	360					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGGCTTTCACAATTTCAT	0.473000														71			125		0	0	0.003610	0	0
LRPPRC	10128	broad.mit.edu	37	2	44201417	44201417	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:44201417A>T	uc002rtr.2	-	8	1085	c.1027T>A	c.(1027-1029)Tta>Ata	p.L343I	LRPPRC_uc010yob.1_Missense_Mutation_p.L243I|LRPPRC_uc010faw.1_Missense_Mutation_p.L317I	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	343					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)				ACTAAAAGTAAAATGAGGTTC	0.358000														286			112		0	0	0.003610	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517128	158517128	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158517128G>A	uc010pil.2	-	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L255I(1)		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)					TCATGGAATAGAAGAGAATTA	0.502000														29			67		0	0	0.003610	0	0
BICD1	636	broad.mit.edu	37	12	32481426	32481427	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32481426_32481427CC>TT	uc001rku.3	+	4	2118_2119	c.2037_2038CC>TT	c.(2035-2040)tccctg>tcTTtg	p.679_680SL>SL	BICD1_uc001rkv.3_Silent_p.679_680SL>SL|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	679	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCTAAAGTCCCTGCTGAGCAC	0.510000														59			18		0	0	0.004672	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648850	57648850	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57648850G>A	uc009zpm.1	-	21	2672	c.2637C>T	c.(2635-2637)acC>acT	p.T879T	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.T574T|R3HDM2_uc001snr.2_Silent_p.T606T|R3HDM2_uc001sns.2_Silent_p.T879T|R3HDM2_uc001snt.2_Silent_p.T893T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	879						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCTCAGTACGGGTGATGCCCT	0.622000														146			16		0	0	0.007413	0	0
NETO1	81832	broad.mit.edu	37	18	70417313	70417313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70417313C>T	uc002lkw.3	-	8	1809	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	NETO1_uc002lky.2_Missense_Mutation_p.D509N	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	509					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	p.D509N(2)		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)		ACGGCTTTATCGTGTCTGGAC	0.438000														16			26		0	0	0.002096	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660772	8660772	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8660772G>A	uc002mkj.1	-	11	1627	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ADAMTS10_uc002mkk.1_Silent_p.L83L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	451	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTTCAGGCAGAGCCCCAGGC	0.607000														92			41		0	0	0.006999	0	0
UROC1	131669	broad.mit.edu	37	3	126226630	126226630	+	Missense_Mutation	SNP	G	A	A	rs116272550	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126226630G>A	uc010hsi.2	-	5	611	c.557C>T	c.(556-558)tCc>tTc	p.S186F	UROC1_uc003eiz.2_Missense_Mutation_p.S186F	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	186					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTCCGGGAGGAGTAGTTGGG	0.557000														55			24		0	0	0.001786	0	0
TEP1	7011	broad.mit.edu	37	14	20852304	20852304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20852304G>A	uc001vxe.3	-	23	3467	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	TEP1_uc010ahk.3_Missense_Mutation_p.P493S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P1035S|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1143					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCGGGCAGGACTCGGTGGC	0.642000														36			30		0	0	0.001512	0	0
OR5H2	79310	broad.mit.edu	37	3	98002019	98002019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98002019G>A	uc003dsj.1	+	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAAACAGGATGATATCTCTGT	0.373000														62			74		0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38913246	38913246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:38913246G>A	uc021yzh.1	+	79	12120	c.12011G>A	c.(12010-12012)gGa>gAa	p.G4004E	DNAH8_uc003ooe.2_Missense_Mutation_p.G3787E|DNAH8_uc003oog.1_Missense_Mutation_p.G236E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCCAGGGGGAGCAGCTCTG	0.453000														74			23		0	0	0.003330	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92816326	92816326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:92816326C>T	uc001tcb.1	-	1	141	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	47										large_intestine(1)|lung(7)	8						CACTAACCTTCATTTCTACCA	0.393000														10			10		0	0	0.000673	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206972	29206973	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29206972_29206973GG>AA	uc002kwz.4	-	6	1185_1186	c.888_889CC>TT	c.(886-891)gacctt>gaTTtt	p.L297F	B4GALT6_uc010dma.3_Missense_Mutation_p.L258F|B4GALT6_uc010dmb.3_Missense_Mutation_p.L258F|B4GALT6_uc002kwy.4_5'Flank	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	297					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTGTTCCAAAGGTCATCATCTT	0.347000														50			12		0	0	0.004672	0	0
KLHL9	55958	broad.mit.edu	37	9	21334327	21334327	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:21334327G>A	uc003zoy.3	-	0	1103	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	178	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGTTCTTCAGGATGAAATTA	0.363000														4			8		0	0	0.003080	0	0
MYO18A	399687	broad.mit.edu	37	17	27419908	27419908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27419908G>A	uc002hdt.1	-	32	5196	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S	MYO18A_uc010wbc.1_Missense_Mutation_p.P1213S|MYO18A_uc002hds.2_Missense_Mutation_p.P1222S|MYO18A_uc010csa.1_Missense_Mutation_p.P1643S|MYO18A_uc002hdu.1_Missense_Mutation_p.P1680S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1680					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGCTTGCTGGGAGCACTGTTC	0.562000														103			27		0	0	0.001512	0	0
MAP1B	4131	broad.mit.edu	37	5	71490076	71490076	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71490076C>T	uc003kbw.4	+	4	1135	c.894C>T	c.(892-894)atC>atT	p.I298I	MAP1B_uc010iyw.1_Silent_p.I315I|MAP1B_uc010iyx.1_Silent_p.I172I|MAP1B_uc010iyy.1_Silent_p.I172I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	298						microtubule|microtubule associated complex	structural molecule activity	p.L297L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAAGCTCATCCGACACTTAG	0.493000														46			90		0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	168813034	168813034	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:168813034C>G	uc011bpj.1	-	13	3253	c.2850_splice	c.e13-1	p.R950_splice	MECOM_uc010hwk.1_Splice_Site_p.R776_splice|MECOM_uc003ffj.3_Splice_Site_p.R827_splice|MECOM_uc003ffi.3_Splice_Site_p.R762_splice|MECOM_uc011bpi.1_Splice_Site_p.R754_splice|MECOM_uc003ffn.3_Splice_Site_p.R762_splice|MECOM_uc003ffk.2_Splice_Site_p.R753_splice|MECOM_uc003ffl.2_Splice_Site_p.R913_splice|MECOM_uc011bpk.1_Splice_Site_p.R762_splice	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTTGCATCTGAAAAATAA	0.333000														23			4		0	0	0.000248	0	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79913410G>A	uc010wvg.2	-	8	1271	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	333						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTGCACCACGAACACAGGGC	0.701000														19			13		0	0	0.004990	0	0
PRRC2B	84726	broad.mit.edu	37	9	134366870	134366870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134366870C>T	uc004can.4	+	27	6339	c.6284C>T	c.(6283-6285)tCt>tTt	p.S2095F	PRRC2B_uc004cao.4_Missense_Mutation_p.S1452F|PRRC2B_uc004cap.4_Missense_Mutation_p.S241F|PRRC2B_uc011mch.2_Missense_Mutation_p.S18F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2095							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGCCCCAGTCTATTCAGCTG	0.642000														44			18		0	0	0.006122	0	0
KLK3	354	broad.mit.edu	37	19	51361294	51361294	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51361294G>A	uc021uyi.1	+	2	257	c.216G>A	c.(214-216)gtG>gtA	p.V72V	KLK3_uc002pts.1_Silent_p.V72V|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	72	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAAAAGCGTGATCTTGCTGG	0.547000														22			7		0	0	0.004482	0	0
NCOA1	8648	broad.mit.edu	37	2	24930670	24930670	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:24930670G>A	uc002rfk.3	+	10	2590	c.2331G>A	c.(2329-2331)aaG>aaA	p.K777K	NCOA1_uc010eye.3_Silent_p.K777K|NCOA1_uc002rfi.3_Silent_p.K626K|NCOA1_uc002rfj.3_Silent_p.K777K|NCOA1_uc002rfl.3_Silent_p.K777K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	777									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTGGAAAAGAAAGAACAGA	0.433000			T	PAX3	alveolar rhadomyosarcoma									14			8		0	0	0.003080	0	0
EPHA6	285220	broad.mit.edu	37	3	97311555	97311555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97311555G>A	uc010how.1	+	11	2529	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.G195E|EPHA6_uc003drs.4_Missense_Mutation_p.G221E|EPHA6_uc003drr.4_Missense_Mutation_p.G221E|EPHA6_uc003drt.3_Missense_Mutation_p.G221E|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	734	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGGGGGAGGATCTTTGCCC	0.547000														24			12		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	14	106963108	106963108	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:106963108C>T	uc021ser.1	-	268		c.10622G>A								Parts of antibodies, mostly variable regions.																		GTCCGGGGGCCTGTCGCACCC	0.552000														46			21		0	0	0.003330	0	0
WDR33	55339	broad.mit.edu	37	2	128480907	128480907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128480907C>T	uc002tpg.2	-	11	1410	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	404					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTCGGTTTCGAGTCCAGAA	0.388000														69			21		0	0	0.001882	0	0
CMYA5	202333	broad.mit.edu	37	5	79089293	79089293	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79089293C>T	uc003kgc.3	+	11	11895	c.11823C>T	c.(11821-11823)tcC>tcT	p.S3941S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3941	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTGCCTTCCTGTGGCCAGC	0.557000														27			68		0	0	0.003610	0	0
DNTT	1791	broad.mit.edu	37	10	98095702	98095702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98095702G>A	uc001kmf.3	+	9	1584	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	DNTT_uc001kmg.3_Missense_Mutation_p.D471N	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	472	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATGATTCTGGATAACCATGC	0.443000														92			98		0	0	0.003610	0	0
ZNF445	353274	broad.mit.edu	37	3	44488420	44488420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44488420G>A	uc003cnf.2	-	7	3091	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	ZNF445_uc011azv.1_Nonsense_Mutation_p.Q903*|ZNF445_uc011azw.1_Nonsense_Mutation_p.Q915*	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	915					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGTTTCCTCTGGTGACTGGAA	0.493000														30			42		0	0	0.003214	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110296	37110296	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:37110296C>T	uc001zjg.4	-	0		c.412G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		TTTATATTTCCTTCCGACAAT	0.537000														5			3		0	0	0.004672	0	0
ODF2	4957	broad.mit.edu	37	9	131222920	131222920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131222920C>T	uc004bvc.3	+	2	433	c.347C>T	c.(346-348)cCg>cTg	p.P116L	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Missense_Mutation_p.P28L|ODF2_uc011mbc.2_Missense_Mutation_p.P28L|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Missense_Mutation_p.P28L|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Missense_Mutation_p.P28L|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAAAAACTCCCGAAACCATCA	0.567000														24			22		0	0	0.001523	0	0
RND1	27289	broad.mit.edu	37	12	49258632	49258632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49258632C>T	uc001rsn.3	-	1	245	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	48					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GTGTAATTTTCGAACACGGTG	0.517000														158			36		0	0	0.004289	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247875172C>T	uc001idj.1	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000														98			25		0	0	0.001786	0	0
SHC4	399694	broad.mit.edu	37	15	49118249	49118249	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:49118249G>A	uc001zxb.1	-	11	2241	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	SHC4_uc010uey.1_Silent_p.I361I|SHC4_uc010uez.1_Silent_p.I318I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	604	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAGAGGAGATGATTGGCAAAC	0.373000														56			48		0	0	0.003610	0	0
EVX2	344191	broad.mit.edu	37	2	176948121	176948122	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:176948121_176948122GG>AA	uc010zeu.2	-	0	569_570	c.383_384CC>TT	c.(382-384)ccc>cTT	p.P128L		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGAGGCCCCCGGGGGAGCGAAG	0.688000														9			7		0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:77766907G>A	uc003yau.2	+	9	8137	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2539N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2539						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2584K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)				14			14		0	0	0.003163	0	0
IPO4	79711	broad.mit.edu	37	14	24654167	24654167	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24654167G>A	uc001wmv.1	-	14	2449	c.1428C>T	c.(1426-1428)taC>taT	p.Y476Y	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.Y138Y|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.Y340Y|IPO4_uc001wmy.1_Silent_p.Y340Y|IPO4_uc001wmz.2_Silent_p.Y476Y	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	476					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCTCCGGAAGGTAGGGCTGCA	0.617000														37			10		0	0	0.001368	0	0
ITGAX	3687	broad.mit.edu	37	16	31382989	31382989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31382989G>A	uc002ebt.3	+	16	2111	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	ITGAX_uc002ebu.1_Missense_Mutation_p.D682N	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	682					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTGGCCCTCGACCCTGGCCG	0.607000														45			15		0	0	0.001216	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553440	140553440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140553440G>A	uc003lit.3	+	0	1198	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	342	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAAACGATAATCGACC	0.448000														37			8		0	0	0.003080	0	0
MST1P9	11223	broad.mit.edu	37	1	17084256	17084256	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:17084256C>T	uc010ock.2	-	12	1761	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.E187E					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TACCTTTGGTCTCACCCCAGC	0.602000														246			8		0	0	0.006214	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:59010864G>A	uc002qtc.2	-	6	1772	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000														56			11		0	0	0.000673	0	0
MSH3	4437	broad.mit.edu	37	5	80037355	80037355	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:80037355C>T	uc003kgz.3	+	10	1894	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	547					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCTGGAAATCCTACAGAATC	0.333000								Mismatch excision repair (MMR)						76			13		0	0	0.002450	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183978	19183978	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:19183978C>T	uc001bba.1	-	1	331	c.330G>A	c.(328-330)ccG>ccA	p.P110P		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	110					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542000														31			20		0	0	0.004656	0	0
INCENP	3619	broad.mit.edu	37	11	61906201	61906202	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61906201_61906202CC>AT	uc001nsw.1	+	5	1334_1335	c.1132_1133CC>AT	c.(1132-1134)ccc>ATc	p.P378I	INCENP_uc009ynw.1_Missense_Mutation_p.P378I|INCENP_uc001nsx.1_Missense_Mutation_p.P378I	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	378					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGAAGGAACCCCCCGAGGAG	0.629000														28			10		0	0	0.004672	0	0
RADIL	55698	broad.mit.edu	37	7	4839353	4839353	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4839353C>T	uc003snj.1	-	13	3203	c.3030G>A	c.(3028-3030)ccG>ccA	p.P1010P	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.P515P|RADIL_uc011jwc.1_Silent_p.P770P|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Silent_p.P306P	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	1010	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGGCTGCCCGGGAGCAGGG	0.716000														3			12		0	0	0.002450	0	0
COL15A1	1306	broad.mit.edu	37	9	101810096	101810096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101810096G>A	uc004azb.1	+	26	2914	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	903	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G903R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGACATAAAGGAGAATTTGGC	0.542000														80			37		0	0	0.007835	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560175	36560175	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:36560175G>A	uc002xhk.4	+	1	514	c.260G>A	c.(259-261)tGg>tAg	p.W87*		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	87	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CACCGGGACTGGACCGACAAG	0.657000														54			14		0	0	0.001855	0	0
ACE	1636	broad.mit.edu	37	17	61571337	61571337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61571337C>T	uc002jau.2	+	20	3225	c.3191C>T	c.(3190-3192)cCc>cTc	p.P1064L	ACE_uc010wpj.2_Missense_Mutation_p.P490L|ACE_uc010ddv.2_Missense_Mutation_p.P291L|ACE_uc002jav.2_Missense_Mutation_p.P490L|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.P310L	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1064	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTTTATCCCCTTCAGCTAC	0.542000														61			11		0	0	0.001368	0	0
ZNF678	339500	broad.mit.edu	37	1	227843247	227843247	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227843247C>T	uc021pjy.1	+	3	1637	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	ZNF678_uc001hqw.2_Silent_p.P432P|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	487					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAGAGAAACCCTACAAATGTA	0.363000														13			32		0	0	0.002096	0	0
PCDH15	65217	broad.mit.edu	37	10	55566661	55566661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55566661G>A	uc010qhq.2	-	34	5116	c.4721C>T	c.(4720-4722)cCc>cTc	p.P1574L	PCDH15_uc010qhr.2_Missense_Mutation_p.P1569L	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			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)				TTTCTTAAAGGGCCCTCCCAG	0.453000										HNSCC(58;0.16)				102			48		0	0	0.003610	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082809	73082809	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73082809C>T	uc001jrr.4	+	1	355	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	SLC29A3_uc001jrs.4_Silent_p.L100L|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	100					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCAGACATCCTGGTAAGGGC	0.552000														20			18		0	0	0.007413	0	0
ABCA8	10351	broad.mit.edu	37	17	66871789	66871789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66871789C>T	uc002jhq.3	-	35	4796	c.4456G>A	c.(4456-4458)Gac>Aac	p.D1486N	ABCA8_uc002jhp.3_Missense_Mutation_p.D1446N|ABCA8_uc010wqq.2_Missense_Mutation_p.D1481N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1446						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCACTCGGTCACACACGGCC	0.557000														40			26		0	0	0.001786	0	0
FSCN3	29999	broad.mit.edu	37	7	127236431	127236431	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127236431C>T	uc003vmd.2	+	2	1110	c.891C>T	c.(889-891)ttC>ttT	p.F297F	FSCN3_uc011koh.1_Silent_p.F163F|FSCN3_uc010llc.2_Silent_p.F297F	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	297						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTCCTTGTTCCAGTTTGAAT	0.542000														225			37		0	0	0.004878	0	0
MICAL3	57553	broad.mit.edu	37	22	18301606	18301606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:18301606G>A	uc002zng.4	-	25	4174	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	MICAL3_uc011agl.2_Missense_Mutation_p.S1190F	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1274	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGGGTAGGGGATGGGACAGT	0.682000														34			18		0	0	0.006122	0	0
KIAA1274	27143	broad.mit.edu	37	10	72291163	72291163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291163G>A	uc001jrd.4	+	4	867	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	196										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCAGGGCCTTGGACCCGGGGT	0.617000														35			15		0	0	0.004990	0	0
DIP2C	22982	broad.mit.edu	37	10	465054	465055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:465054_465055GG>AA	uc001ifp.3	-	5	779_780	c.689_690CC>TT	c.(688-690)tcc>tTT	p.S230F		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	230						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCTGTCCGGGACCCCGTGGA	0.540000														13			14		0	0	0.004672	0	0
PVRL4	81607	broad.mit.edu	37	1	161047418	161047418	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161047418C>T	uc001fxo.2	-	2	854	c.555G>A	c.(553-555)acG>acA	p.T185T	PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	185	Ig-like C2-type 1.		T -> M (in EDSS1).		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.D184E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTGACCTCCGTGTCCCAGG	0.637000														24			41		0	0	0.006999	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45712031	45712031	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:45712031G>A	uc001wwf.3	-	2	1050	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	197					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGACCGGGAGGAAAATATCAT	0.338000														53			27		0	0	0.001786	0	0
TBX20	57057	broad.mit.edu	37	7	35288374	35288374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:35288374G>A	uc011kas.2	-	2	940	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	154						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGTCCACAGGGACGATGTCC	0.602000														93			15		0	0	0.004007	0	0
RLIM	51132	broad.mit.edu	37	X	73814155	73814155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73814155G>T	uc004ebu.3	-	3	529	c.239C>A	c.(238-240)tCa>tAa	p.S80*	RLIM_uc004ebw.3_Nonsense_Mutation_p.S80*	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	80					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTTCATCTGAGTTTTGCGG	0.423000														4			33		1.58521e-26	2.52395e-26	0.005524	1	0
SPTBN2	6712	broad.mit.edu	37	11	66472485	66472485	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66472485G>A	uc001ojd.3	-	13	2334	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	754					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTTTGCATCGGCCTGGAACT	0.677000														9			22		0	0	0.001523	0	0
CASD1	64921	broad.mit.edu	37	7	94174937	94174937	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:94174937C>A	uc003uni.4	+	11	1784	c.1557C>A	c.(1555-1557)ccC>ccA	p.P519P	CASD1_uc003unj.4_Silent_p.P519P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	519						integral to membrane		p.P519S(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTTTGTCCCCTTGGTCACTG	0.333000														116			6		0.00116845	0.00183067	0.001168	1	0
AKR1E2	83592	broad.mit.edu	37	10	4881973	4881973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:4881973C>T	uc001ihi.3	+	5	750	c.635C>T	c.(634-636)tCc>tTc	p.S212F	AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Intron|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	212						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TTTTGCCAATCCAGAGATGTG	0.448000														15			26		0	0	0.002096	0	0
GTDC1	79712	broad.mit.edu	37	2	144899570	144899570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:144899570G>A	uc002tvp.3	-	5	679	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	GTDC1_uc002tvo.3_Missense_Mutation_p.L134F|GTDC1_uc021vqf.1_Missense_Mutation_p.L134F|GTDC1_uc010fnn.3_Missense_Mutation_p.L134F|GTDC1_uc002tvs.3_Missense_Mutation_p.L102F|GTDC1_uc021vqg.1_Missense_Mutation_p.L134F|GTDC1_uc002tvr.3_Missense_Mutation_p.L134F|GTDC1_uc010fno.3_Missense_Mutation_p.L5F|GTDC1_uc002tvt.2_Missense_Mutation_p.L134F	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	134					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGGAAGTGAGAAATGATTCC	0.403000														20			24		0	0	0.003330	0	0
JAK3	3718	broad.mit.edu	37	19	17940954	17940955	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17940954_17940955CC>TT	uc002nhn.4	-	22	3269_3270	c.3169_3170GG>AA	c.(3169-3171)ggc>AAc	p.G1057N	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.G1057N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1057	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGCCTCTGGCCCTCCTCCAGC	0.668000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									2			8		0	0	0.004672	0	0
C13orf33	84935	broad.mit.edu	37	13	31495964	31495964	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:31495964G>A	uc001uth.4	+	3	1109	c.768G>A	c.(766-768)aaG>aaA	p.K256K	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	256								p.R255L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		CTGACCGAAAGTTCAGTGTAA	0.358000														13			7		0	0	0.004482	0	0
KIF5A	3798	broad.mit.edu	37	12	57971510	57971510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57971510G>A	uc001sor.1	+	20	2523	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q	KIF5A_uc010srr.1_Missense_Mutation_p.R683Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	772					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTACGAGCGACATGAGCAG	0.498000														95			8		0	0	0.004482	0	0
ASIC5	51802	broad.mit.edu	37	4	156784766	156784766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156784766G>A	uc003ipe.1	-	1	228	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	61						integral to membrane|plasma membrane											AGCACCCTGCGAATTTTGCTC	0.488000														22			12		0	0	0.001855	0	0
CXorf21	80231	broad.mit.edu	37	X	30578126	30578126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:30578126G>A	uc022bui.1	-	0	347	c.347C>T	c.(346-348)tCt>tTt	p.S116F	CXorf21_uc004dcg.2_Missense_Mutation_p.S116F	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	116										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACTTTTGCAAGAAGATGGAAC	0.443000														43			40		0	0	0.006999	0	0
DNAH7	56171	broad.mit.edu	37	2	196723387	196723387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196723387C>T	uc002utj.4	-	42	7979	c.7878G>A	c.(7876-7878)atG>atA	p.M2626I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2626	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						TCATTATCATCATTTCATCAA	0.383000														42			15		0	0	0.004990	0	0
LRP1	4035	broad.mit.edu	37	12	57600321	57600321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57600321C>T	uc001snd.3	+	75	12122	c.11656C>T	c.(11656-11658)Ccc>Tcc	p.P3886S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3886					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCGGCCACCCCCATTCGGC	0.587000														61			17		0	0	0.004990	0	0
abParts	0	broad.mit.edu	37	22	22677072	22677072	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:22677072G>A	uc021wml.1	+	37		c.3697G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGCGGCCCCAGGACAGAAGGT	0.567000														21			108		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149510822	149510823	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149510822_149510823CC>TT	uc010lpk.3	+	70	10098_10099	c.10098_10099CC>TT	c.(10096-10101)gacctg>gaTTtg	p.3366_3367DL>DL		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3369					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCCTGGACCTGCTGACCGG	0.698000														4			37		0	0	0.004672	0	0
OTOL1	131149	broad.mit.edu	37	3	161214732	161214732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:161214732C>T	uc011bpb.2	+	0	137	c.137C>T	c.(136-138)cCa>cTa	p.P46L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	46						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCTAAAGCCATCCAGTGGC	0.443000														20			30		0	0	0.006320	0	0
DDN	23109	broad.mit.edu	37	12	49390542	49390542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49390542C>T	uc001rsv.1	-	1	2135	c.2117G>A	c.(2116-2118)gGa>gAa	p.G706E		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	706	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCCTATTTCCCTGTTGGGT	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			34		0	0	0.003755	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228884867C>T	uc002vpq.2	-	6	750	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E235K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E235K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	235						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTATATTTTCATAATCTAGT	0.343000														36			25		0	0	0.006320	0	0
TRAK1	22906	broad.mit.edu	37	3	42242542	42242542	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:42242542C>T	uc003cky.3	+	11	1639	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L	TRAK1_uc011azh.2_Silent_p.L475L|TRAK1_uc011azi.2_Silent_p.L475L|TRAK1_uc003ckz.4_Silent_p.L401L|TRAK1_uc011azj.2_Silent_p.L401L|TRAK1_uc003cla.3_Silent_p.L417L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	475	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCAGCCGACCTGGGGTGAGC	0.532000														40			11		0	0	0.000978	0	0
DHX34	9704	broad.mit.edu	37	19	47856916	47856917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47856916_47856917CC>TT	uc010xyn.2	+	1	978_979	c.629_630CC>TT	c.(628-630)acc>aTT	p.T210I	DHX34_uc010elc.1_Missense_Mutation_p.T210I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	210	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGGCGTGCACCCAGCCCCGGC	0.639000														21			6		0	0	0.004672	0	0
KCNK9	51305	broad.mit.edu	37	8	140630829	140630829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:140630829C>T	uc003yvf.1	-	1	861	c.797G>A	c.(796-798)gGa>gAa	p.G266E	KCNK9_uc003yvg.1_Missense_Mutation_p.G266E|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	266						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A265T(2)		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)			GTTGCGGTTTCCGGCGAGGGA	0.632000														36			18		0	0	0.001216	0	0
A2ML1	144568	broad.mit.edu	37	12	8988120	8988120	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8988120G>A	uc001quz.4	+	5	599	c.501G>A	c.(499-501)agG>agA	p.R167R		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	11						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATAGCAACAGGATTGCACAGT	0.512000														52			6		0	0	0.001984	0	0
KIF3C	3797	broad.mit.edu	37	2	26204327	26204327	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26204327G>A	uc002rgu.2	-	0	1117	c.460C>T	c.(460-462)Cga>Tga	p.R154*	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Nonsense_Mutation_p.R154*	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	154	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGGTCTCGAATCTCTTCC	0.557000														33			42		0	0	0.007835	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703747	187703747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187703747C>T	uc002upu.1	-	3	473	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	145					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGCAGATATCCTCTGAATCA	0.358000														107			55		0	0	0.003610	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71929	71929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000209.1:71929G>A	uc002qui.2	+	2	90	c.79G>A	c.(79-81)Gac>Aac	p.D27N	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.D24N|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	27					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGGTGGTCAGGACAAGCCCTT	0.572000														33			93		0	0	0.003610	0	0
SYN3	8224	broad.mit.edu	37	22	32914109	32914110	+	Silent	DNP	GG	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:32914109_32914110GG>TT	uc003amx.3	-	11	1692_1693	c.1530_1531CC>AA	c.(1528-1533)ccccgg>ccAAgg	p.510_511PR>PR	SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Silent_p.509_510PR>PR|SYN3_uc011amc.1_Silent_p.144_145PR>PR	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	510	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACAGGGGGCCGGGGCTGTGAGG	0.629000														92			5		0	0	0.004672	0	0
RASAL3	64926	broad.mit.edu	37	19	15564295	15564295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15564295C>T	uc002nbe.2	-	14	2379	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	RASAL3_uc002nbd.3_Missense_Mutation_p.E105K	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	765					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGGGCTTCTCCCCTGCGGAG	0.662000														8			3		0	0	0.004672	0	0
THSD7A	221981	broad.mit.edu	37	7	11676536	11676536	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:11676536C>T	uc021zzo.1	-	1	495	c.243G>A	c.(241-243)acG>acA	p.T81T	THSD7A_uc021zzn.1_Silent_p.T81T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	81	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACAGCCCTCGTTTGGATGC	0.458000										HNSCC(18;0.044)				120			48		0	0	0.003610	0	0
LYST	1130	broad.mit.edu	37	1	235866166	235866167	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235866166_235866167GG>AA	uc001hxj.2	-	44	10429_10430	c.10254_10255CC>TT	c.(10252-10257)gcccat>gcTTat	p.H3419Y	LYST_uc001hxi.2_Missense_Mutation_p.H643Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3419	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTCACATGGGCCATGTGGA	0.525000														221			66		0	0	0.004672	0	0
DSCR10	259234	broad.mit.edu	37	21	39580310	39580310	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39580310G>A	uc010gnt.2	+	2		c.432G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		TGTGTGCCCTGATGTGGACCT	0.572000														64			24		0	0	0.003330	0	0
PHF12	57649	broad.mit.edu	37	17	27240101	27240101	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27240101G>A	uc002hdg.1	-	8	2018	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	PHF12_uc010wbb.1_Silent_p.C478C|PHF12_uc002hdi.1_Silent_p.C492C|PHF12_uc002hdj.1_Silent_p.C496C|PHF12_uc010crw.1_Silent_p.C199C|PHF12_uc002hdh.1_Silent_p.C279C	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	496	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCCCTGAGGGGCAGGACAAGG	0.547000														64			21		0	0	0.001882	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59983018	59983018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:59983018G>A	uc003jsh.3	-	1	158	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	DEPDC1B_uc011cqm.2_Missense_Mutation_p.P29S|DEPDC1B_uc011cqn.2_Missense_Mutation_p.P2S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	29	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCCGTAACGGCATCTTAGCA	0.443000														100			18		0	0	0.001882	0	0
PUS7L	83448	broad.mit.edu	37	12	44148638	44148638	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:44148638C>T	uc001rns.4	-	1	491	c.411G>A	c.(409-411)ctG>ctA	p.L137L	PUS7L_uc001rnq.4_Silent_p.L137L|PUS7L_uc001rnr.4_Silent_p.L137L|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.	137					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)		CAAAATTATTCAGTAACTCAT	0.363000														122			26		0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82545000	82545000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82545000G>A	uc003uhx.2	-	6	12591	c.12302C>T	c.(12301-12303)tCc>tTc	p.S4101F	PCLO_uc003uhv.2_Missense_Mutation_p.S4101F|PCLO_uc010lec.3_Missense_Mutation_p.S1066F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4032					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						CAATCTAGAGGAAGACTGTAA	0.438000														27			9		0	0	0.006214	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693262	187693262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187693262C>T	uc002upu.1	-	8	1391	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	451					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTATTCAATTCATCAAAATTA	0.294000														25			10		0	0	0.000978	0	0
ZNF280D	54816	broad.mit.edu	37	15	56993156	56993156	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:56993156A>T	uc002adu.3	-	5	573	c.356T>A	c.(355-357)gTt>gAt	p.V119D	ZNF280D_uc002adv.3_Missense_Mutation_p.V106D|ZNF280D_uc010bfq.3_Missense_Mutation_p.V119D|ZNF280D_uc002adw.1_Missense_Mutation_p.V147D|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Missense_Mutation_p.V119D|ZNF280D_uc002adx.3_Missense_Mutation_p.V119D	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAACAATAACAGAACTATC	0.393000														40			22		0	0	0.002299	0	0
DQ586822	0	broad.mit.edu	37	15	84945563	84945563	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:84945563G>A	uc002bke.2	-	0		c.1687C>T								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		TTGGGGCCCTGAAGAAAGGGG	0.572000														14			19		0	0	0.007413	0	0
COL20A1	57642	broad.mit.edu	37	20	61938856	61938856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61938856C>T	uc011aau.2	+	5	611	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	COL20A1_uc011aav.2_5'UTR	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	171					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCCAGTTCCGCTGCCTGCC	0.682000														17			18		0	0	0.007413	0	0
TNXB	7148	broad.mit.edu	37	6	32029321	32029321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32029321C>T	uc003nzl.2	-	20	7547	c.7345G>A	c.(7345-7347)Gac>Aac	p.D2449N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2509					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCCCGTCCCTGTCCTTG	0.657000														286			372		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164792420	164792420	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164792420G>C	uc003fei.3	-	2	217	c.154C>G	c.(154-156)Cgt>Ggt	p.R52G		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	52	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTCACACGAGTAGTAGCT	0.333000										HNSCC(35;0.089)				24			16		0	0	0.001523	0	0
TRANK1	9881	broad.mit.edu	37	3	36873994	36873994	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36873994C>T	uc003cgj.3	-	20	7196	c.6948G>A	c.(6946-6948)agG>agA	p.R2316R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2316					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGAGTTCCCTGTTGTAGT	0.512000														48			39		0	0	0.001951	0	0
UCHL5	51377	broad.mit.edu	37	1	193018906	193018906	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:193018906G>A	uc001gsm.3	-	2	349	c.216C>T	c.(214-216)tcC>tcT	p.S72S	UCHL5_uc001gso.3_Silent_p.S72S|UCHL5_uc001gsn.3_Non-coding_Transcript|UCHL5_uc010pov.2_Non-coding_Transcript|UCHL5_uc001gsq.3_Silent_p.S72S|UCHL5_uc001gsp.3_Silent_p.S72S|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.2_Intron	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	Homo sapiens ubiquitin carboxyl-terminal hydrolase L5 (UCHL5), transcript variant 1, mRNA.	72					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	Ino80 complex|cytosol|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TGTCAAGTCGGGAGTCCTGAA	0.398000														56			10		0	0	0.000673	0	0
PDHA2	5161	broad.mit.edu	37	4	96761999	96761999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:96761999G>A	uc003htr.4	+	0	761	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	233					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCTACTGAGAGAGCAGCAGCC	0.438000														6			26		0	0	0.004656	0	0
BCAT1	586	broad.mit.edu	37	12	24985736	24985736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24985736C>T	uc001rgd.4	-	8	1492	c.965G>A	c.(964-966)gGg>gAg	p.G322E	BCAT1_uc001rgc.3_Missense_Mutation_p.G321E|BCAT1_uc010six.2_Missense_Mutation_p.G334E|BCAT1_uc010siy.2_Missense_Mutation_p.G285E|BCAT1_uc001rge.4_Missense_Mutation_p.G261E	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	322					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTCTGTTCCCCTCCAGGGC	0.423000														18			8		0	0	0.004482	0	0
FAM135A	57579	broad.mit.edu	37	6	71190694	71190694	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:71190694C>T	uc003pfj.3	+	6	766	c.633C>T	c.(631-633)gtC>gtT	p.V211V	FAM135A_uc003pfi.3_Silent_p.V211V|FAM135A_uc003pfh.3_Silent_p.V168V|FAM135A_uc003pfk.3_Silent_p.V211V|FAM135A_uc003pfl.3_Silent_p.V48V|FAM135A_uc003pfm.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	211										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAGTGTGGTCTTTGGTATTA	0.343000														9			37		0	0	0.007835	0	0
TRPC5	7224	broad.mit.edu	37	X	111195330	111195330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:111195330C>T	uc004epl.1	-	1	1238	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TRPC5_uc004epm.1_Missense_Mutation_p.E107K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	107					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCACCACTTCCTTGCGTATG	0.537000														10			94		0	0	0.003610	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743657	148743657	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148743657C>T	uc003lqk.2	+	2	416	c.354C>T	c.(352-354)ttC>ttT	p.F118F	PCYOX1L_uc003lql.2_Silent_p.F101F|PCYOX1L_uc010jgz.2_Silent_p.F101F|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_Silent_p.F28F	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	118					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCACTTCATGCTGGAGG	0.627000														36			30		0	0	0.001786	0	0
RYBP	23429	broad.mit.edu	37	3	72427681	72427681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:72427681G>A	uc003dpe.3	-	3	512	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	181	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGAGGATGTCGATGAGGAGCG	0.547000														24			8		0	0	0.004482	0	0
CPT1C	126129	broad.mit.edu	37	19	50216832	50216832	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50216832C>T	uc010eng.3	+	19	2698	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	CPT1C_uc002ppk.3_Silent_p.S783S|CPT1C_uc010enh.3_Silent_p.S794S|CPT1C_uc002ppj.3_Silent_p.S794S|CPT1C_uc010eni.1_Silent_p.S362S	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	794					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGGGCCTCCAAGGCCTCAA	0.577000														49			21		0	0	0.004656	0	0
ZNF323	64288	broad.mit.edu	37	6	28297244	28297244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28297244G>A	uc003nlc.3	-	1	606	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ZNF323_uc003nld.3_Missense_Mutation_p.H73Y|ZNF323_uc010jra.3_Missense_Mutation_p.H73Y|ZNF323_uc003nla.3_Missense_Mutation_p.H73Y|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.H73Y|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I72I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TCTTTGGTGTGGATTTCTGGC	0.552000														96			174		0	0	0.003610	0	0
LGALS2	3957	broad.mit.edu	37	22	37966292	37966292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:37966292G>A	uc003ata.3	-	3	489	c.377C>T	c.(376-378)tCc>tTc	p.S126F		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	126	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CTTGAAAGAGGACATGTTGAA	0.517000														6			90		0	0	0.003610	0	0
MYL6	4637	broad.mit.edu	37	12	56553498	56553498	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56553498G>A	uc010sqd.2	+	1	478	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MYL6_uc001sjw.2_Silent_p.G53G|MYL6_uc001sjx.2_Silent_p.G53G|MYL6_uc010sqe.2_Silent_p.G18G	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	53	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGTCCTGGGGAACCCCAAGA	0.562000														10			34		0	0	0.003755	0	0
FKRP	79147	broad.mit.edu	37	19	47258805	47258805	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47258805A>G	uc002pfn.2	+	3	395	c.98A>G	c.(97-99)aAt>aGt	p.N33S	FKRP_uc002pfp.2_Missense_Mutation_p.N33S|FKRP_uc021uwj.1_Missense_Mutation_p.N33S	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	33						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CAGCCTAGGAATTCCCGGGCC	0.692000														13			5		0	0	0.000602	0	0
NRXN3	9369	broad.mit.edu	37	14	78709968	78709968	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:78709968G>A	uc001xum.1	+	1		c.1325G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTTAATTCTGGATCTCAAGTA	0.572000														21			10		0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13823447	13823447	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13823447C>T	uc003jfd.2	-	39	6654	c.6612G>A	c.(6610-6612)ttG>ttA	p.L2204L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2204					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)					GATCTTCAATCAAACTCAAAA	0.368000									Kartagener syndrome					31			80		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71797810	71797810	+	Missense_Mutation	SNP	G	A	A	rs150877497		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71797810G>A	uc010fen.3	+	28	3308	c.3167G>A	c.(3166-3168)cGa>cAa	p.R1056Q	DYSF_uc010fei.3_Missense_Mutation_p.R1055Q|DYSF_uc010feh.3_Missense_Mutation_p.R1024Q|DYSF_uc002sig.4_Missense_Mutation_p.R1024Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1069Q|DYSF_uc010fee.3_Missense_Mutation_p.R1038Q|DYSF_uc010fef.3_Missense_Mutation_p.R1055Q|DYSF_uc002sie.3_Missense_Mutation_p.R1038Q|DYSF_uc010feo.3_Missense_Mutation_p.R1070Q|DYSF_uc010fej.3_Missense_Mutation_p.R1025Q|DYSF_uc010fel.3_Missense_Mutation_p.R1025Q|DYSF_uc010fem.3_Missense_Mutation_p.R1039Q|DYSF_uc002sif.3_Missense_Mutation_p.R1039Q|DYSF_uc010fek.3_Missense_Mutation_p.R1056Q	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1038	Arg-rich.					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						TACACACACCGACGGCGGCGC	0.642000														23			7		0	0	0.004482	0	0
DPM1	8813	broad.mit.edu	37	20	49551736	49551736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49551736G>A	uc002xvw.1	-	8	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F	DPM1_uc002xvx.1_Non-coding_Transcript	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	239					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCCCAACTTGGATTCACCATA	0.303000														172			42		0	0	0.003214	0	0
WWC1	23286	broad.mit.edu	37	5	167812347	167812347	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167812347C>T	uc003lzu.3	+	2	454	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	WWC1_uc003lzv.3_Silent_p.L121L|WWC1_uc011den.2_Silent_p.L121L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	121					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCAGCAGCGCCTGGAGCTTGC	0.597000														56			9		0	0	0.006214	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290737	141290737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:141290737G>A	uc022cfj.1	-	0	1037	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	MAGEC2_uc004fbu.2_Missense_Mutation_p.A346V	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	346						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAATTGTGGCCTGGACTCT	0.453000										HNSCC(46;0.14)				52			37		0	0	0.002222	0	0
MCM7	4176	broad.mit.edu	37	7	99697317	99697317	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:99697317C>T	uc003usw.1	-	2	681	c.171G>A	c.(169-171)gaG>gaA	p.E57E	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	57					DNA strand elongation involved in DNA replication|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|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGGGGTCATCCTCGGCTACGT	0.557000														118			47		0	0	0.003610	0	0
UGGT1	56886	broad.mit.edu	37	2	128936107	128936108	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128936107_128936108CC>TA	uc002tps.3	+	33	3957_3958	c.3779_3780CC>TA	c.(3778-3780)tcc>tTA	p.S1260L	UGGT1_uc002tpr.3_Missense_Mutation_p.S1236L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1260	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.S1260S(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AATATTTTCTCCGTTGCATCTG	0.342000														43			13		0	0	0.004672	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796529	42796529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42796529C>T	uc003osn.1	+	5	609	c.458C>T	c.(457-459)tCt>tTt	p.S153F	KIAA0240_uc003osm.1_Missense_Mutation_p.S153F|KIAA0240_uc011duw.1_Missense_Mutation_p.S153F|KIAA0240_uc003oso.1_Missense_Mutation_p.S153F|KIAA0240_uc003osp.1_Missense_Mutation_p.S153F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	153										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ACTCAGGCTTCTAATGTTTCT	0.463000														20			133		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144940303	144940303	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144940303G>A	uc003zaa.1	-	0	7132	c.7119C>T	c.(7117-7119)aaC>aaT	p.N2373N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2373						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCGGTTCATCTCCT	0.682000														352			34		0	0	0.006230	0	0
LTK	4058	broad.mit.edu	37	15	41803693	41803693	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:41803693C>T	uc001zoa.3	-	5	919	c.741G>A	c.(739-741)cgG>cgA	p.R247R	LTK_uc001zob.3_Silent_p.R247R|LTK_uc010ucx.1_Silent_p.R247R|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	247					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGGCCTGAGTCCGGCCTCGGT	0.786000										TSP Lung(18;0.14)				6			3		0	0	0.000248	0	0
KCNN3	3782	broad.mit.edu	37	1	154705554	154705554	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154705554G>A	uc021pah.1	-	4	1874	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	KCNN3_uc001ffo.3_Silent_p.F200F|KCNN3_uc001ffp.3_Silent_p.F505F	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	510						integral to membrane	calmodulin binding	p.G520W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAATGGAAAGGAATGTGATGG	0.522000														29			51		0	0	0.003610	0	0
ATF6	22926	broad.mit.edu	37	1	161761236	161761236	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161761236C>T	uc001gbs.3	+	4	510	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ATF6_uc001gbq.2_Silent_p.P131P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	131	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AGATGTCTCCCCTTTCCTTAT	0.388000														70			20		0	0	0.002299	0	0
PABPC3	5042	broad.mit.edu	37	13	25671363	25671363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:25671363C>T	uc001upy.3	+	0	1088	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	343	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTCTCCTCCCCAGAAGAAGC	0.463000														50			32		0	0	0.002096	0	0
FUT9	10690	broad.mit.edu	37	6	96651729	96651729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:96651729C>T	uc003pop.4	+	2	1039	c.698C>T	c.(697-699)cCt>cTt	p.P233L	FUT9_uc021zcw.1_Missense_Mutation_p.P233L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	233					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTTGATTCCTACCATATCT	0.353000														3			11		0	0	0.001368	0	0
WDR96	80217	broad.mit.edu	37	10	105945794	105945794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105945794C>T	uc001kxw.3	-	14	2064	c.1948G>A	c.(1948-1950)Gga>Aga	p.G650R	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.G651R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	650										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCACAATCCATGTGAAGAC	0.373000														49			41		0	0	0.003610	0	0
TDRKH	11022	broad.mit.edu	37	1	151749052	151749052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151749052G>A	uc009wnb.1	-	6	1089	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	TDRKH_uc001eyy.2_Missense_Mutation_p.H79Y|TDRKH_uc001ezb.4_Missense_Mutation_p.H299Y|TDRKH_uc001ezc.4_Missense_Mutation_p.H258Y|TDRKH_uc001eza.4_Missense_Mutation_p.H303Y|TDRKH_uc001ezd.4_Missense_Mutation_p.H303Y|TDRKH_uc010pdn.1_Missense_Mutation_p.H79Y	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	303							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCATCAGCATGAAAACTGAAG	0.498000														28			43		0	0	0.003214	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055474	9055474	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9055474G>A	uc003brf.1	-	15	2542	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	SRGAP3_uc003brg.1_Silent_p.T598T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	622	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCGGGGAAGGGTGACGAGGA	0.552000			T	RAF1	pilocytic astrocytoma									35			37		0	0	0.001951	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443098	1443098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1443098G>A	uc003jck.3	-	1	341	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	72					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.S72F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCAATGACGGACAGGAGAAA	0.612000														65			19		0	0	0.007413	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833815	160833815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160833815C>T	uc002ube.2	-	14	2593	c.2381G>A	c.(2380-2382)tGg>tAg	p.W794*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.W794*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.W794*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	794	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTGCATATCCATTCACGTTT	0.343000														27			6		0	0	0.001984	0	0
SPIN4	139886	broad.mit.edu	37	X	62570692	62570692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:62570692G>A	uc004dvf.3	-	0	527	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	Homo sapiens spindlin family, member 4 (SPIN4), mRNA.	3					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACGGTTGGAGGAGACATAGCT	0.493000														3			30		0	0	0.003271	0	0
FOXI1	2299	broad.mit.edu	37	5	169535234	169535234	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169535234G>A	uc003mai.4	+	1	801	c.756G>A	c.(754-756)ttG>ttA	p.L252L	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	252					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACATCTTGGATGGAGCCT	0.597000									Pendred syndrome					40			29		0	0	0.001512	0	0
CD300A	11314	broad.mit.edu	37	17	72469699	72469699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72469699G>A	uc002jkv.3	+	1	386	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	22	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGCAAATGCAGGACCGTGGCG	0.587000														57			35		0	0	0.003214	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47648699	47648699	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47648699A>T	uc002xtx.4	+	37	5329	c.5177A>T	c.(5176-5178)gAa>gTa	p.E1726V	ARFGEF2_uc010zyf.2_Missense_Mutation_p.E1019V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1726					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATAAATGATGAAAAGGTATGA	0.383000														76			38		0	0	0.006230	0	0
ACE	1636	broad.mit.edu	37	17	61566478	61566478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61566478C>T	uc002jau.2	+	16	2660	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S	ACE_uc010wpj.2_Missense_Mutation_p.P302S|ACE_uc010ddv.2_Missense_Mutation_p.P103S|ACE_uc002jav.2_Missense_Mutation_p.P302S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	876	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGGCCCATTCCTGCTCACCT	0.632000														22			10		0	0	0.000673	0	0
ZNF852	285346	broad.mit.edu	37	3	44541327	44541327	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44541327G>A	uc011azx.2	-	3	1103	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Silent_p.L280L			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	314					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GATGGTCAATGAGATTTCTAT	0.413000														26			10		0	0	0.001855	0	0
KRT71	112802	broad.mit.edu	37	12	52939367	52939367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52939367G>A	uc001sao.3	-	7	1412	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	448	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACAGGGGAGGGAAATTCTCCT	0.418000														25			54		0	0	0.003610	0	0
ZNF320	162967	broad.mit.edu	37	19	53384916	53384916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53384916G>A	uc002qag.3	-	3	654	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H101Y|ZNF320_uc002qai.3_Missense_Mutation_p.H155Y	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAGTATGAATTCTCCTA	0.363000														89			28		0	0	0.006320	0	0
OR2A25	392138	broad.mit.edu	37	7	143771670	143771670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143771670G>A	uc011ktx.2	+	0	358	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATGTCCTATGATCGGTACGT	0.483000														23			130		0	0	0.003610	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450200	105450200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:105450200G>A	uc022cca.1	+	0	775	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MUM1L1_uc004emg.2_Missense_Mutation_p.E259K|MUM1L1_uc004emf.2_Missense_Mutation_p.E259K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	259										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAAGAGAGCGAGGATACCTG	0.453000														4			7		0	0	0.003080	0	0
STAT4	6775	broad.mit.edu	37	2	191937854	191937854	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:191937854G>A	uc002usm.2	-	4	750	c.435C>T	c.(433-435)caC>caT	p.H145H	STAT4_uc002usn.2_Silent_p.H145H|STAT4_uc002uso.2_Silent_p.H145H	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCCACTTTGTGCTCCACAT	0.403000														142			17		0	0	0.007413	0	0
LRBA	987	broad.mit.edu	37	4	151271219	151271219	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:151271219G>A	uc010ipj.3	-	48	7564	c.7320C>T	c.(7318-7320)gcC>gcT	p.A2440A	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Silent_p.A330A|LRBA_uc003ilt.4_Silent_p.A1088A|LRBA_uc003ilu.4_Silent_p.A2429A	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2440	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACACATTGAGGGCTCGGACAG	0.418000														22			27		0	0	0.005443	0	0
GRAMD4	23151	broad.mit.edu	37	22	47022827	47022827	+	Missense_Mutation	SNP	C	T	T	rs140068081		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:47022827C>T	uc003bhx.3	+	0	180	c.131C>T	c.(130-132)tCg>tTg	p.S44L		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	44					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCGCGGACCTCGCCCCGGGAC	0.642000														90			20		0	0	0.002299	0	0
FOXJ2	55810	broad.mit.edu	37	12	8201356	8201356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8201356G>A	uc001qtu.3	+	7	2374	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	FOXJ2_uc001qtt.1_Missense_Mutation_p.R430Q	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	430					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ATGGTGAATCGGCTCAATTGG	0.428000														97			17		0	0	0.001523	0	0
IL32	9235	broad.mit.edu	37	16	3119012	3119012	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3119012A>T	uc002ctq.3	+	5	456	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	IL32_uc002ctn.3_Nonsense_Mutation_p.K75*|IL32_uc002ctk.3_Nonsense_Mutation_p.K75*|IL32_uc002cto.3_Nonsense_Mutation_p.K121*|IL32_uc010uwp.2_Nonsense_Mutation_p.K55*|IL32_uc010btb.3_Nonsense_Mutation_p.K65*|IL32_uc002ctl.3_Nonsense_Mutation_p.K75*|IL32_uc002ctm.3_Nonsense_Mutation_p.K75*|IL32_uc002ctp.3_Nonsense_Mutation_p.K55*|IL32_uc002ctr.3_Nonsense_Mutation_p.K55*|IL32_uc002ctt.3_Nonsense_Mutation_p.K75*|IL32_uc010uwr.2_Nonsense_Mutation_p.K35*|IL32_uc002ctu.3_Nonsense_Mutation_p.K66*|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	121					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCTACTTGAAAAAGAAAGAGA	0.587000														15			6		0	0	0.001855	0	0
LAMB4	22798	broad.mit.edu	37	7	107688391	107688391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107688391G>A	uc010ljo.1	-	27	4372	c.4288C>T	c.(4288-4290)Cgt>Tgt	p.R1430C	LAMB4_uc003vey.2_Missense_Mutation_p.R1430C|LAMB4_uc010ljp.1_Missense_Mutation_p.R399C	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1430	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCAAATTACGAATAATGGAT	0.448000														17			128		0	0	0.003610	0	0
RFX2	5990	broad.mit.edu	37	19	5997073	5997073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5997073C>T	uc002meb.3	-	15	2280	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	RFX2_uc002mec.3_Missense_Mutation_p.E646K	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCCTCACCTCTCCCATCACA	0.672000														26			26		0	0	0.007291	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303846	151303846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:151303846G>A	uc022cgz.1	-	0	247	c.247C>T	c.(247-249)Cct>Tct	p.P83S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P83S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P83S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P83S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGGAGGATTTGGTGTC	0.542000														15			103		0	0	0.003610	0	0
LRRK2	120892	broad.mit.edu	37	12	40699676	40699676	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:40699676G>A	uc001rmg.4	+	27	3988	c.3867G>A	c.(3865-3867)ggG>ggA	p.G1289G	LRRK2_uc009zjw.3_Silent_p.G127G|LRRK2_uc001rmi.3_Silent_p.G122G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1289					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAATGGGGAAATTAAGCA	0.358000														20			15		0	0	0.004990	0	0
RNFT2	84900	broad.mit.edu	37	12	117217001	117217001	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:117217001C>T	uc009zwn.3	+	7	962	c.729_splice	c.e7-1	p.S243_splice	RNFT2_uc001twb.4_Splice_Site_p.S243_splice|RNFT2_uc001twa.4_Splice_Site_p.S153_splice|RNFT2_uc001twc.4_Splice_Site	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	243						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCCCCCCAGCCTCATATTCCT	0.517000														19			94		0	0	0.003610	0	0
CMTM2	146225	broad.mit.edu	37	16	66620900	66620900	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66620900G>A	uc002ept.3	+	3	605	c.445_splice	c.e3-1	p.D149_splice	CMTM2_uc010cdu.3_Splice_Site_p.D96_splice	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	149	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CCACCTTCAGGACCTCTTCAA	0.512000														47			16		0	0	0.007413	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719950	70719950	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70719950C>T	uc003heo.3	-	3	467	c.354G>A	c.(352-354)tgG>tgA	p.W118*	SULT1E1_uc010ihv.1_Nonsense_Mutation_p.W118*	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATCCTTTTCCCAAAATGAGG	0.343000														24			10		0	0	0.006214	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186534	79186534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:79186534C>T	uc002bel.3	+	10	1069	c.881C>T	c.(880-882)tCc>tTc	p.S294F	MORF4L1_uc002bem.3_Missense_Mutation_p.S255F|MORF4L1_uc010une.2_Missense_Mutation_p.S167F	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	294	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GCACCCATGTCCCAGGTGTAT	0.393000														84			64		0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21395432	21395432	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21395432G>A	uc002kuq.3	+	17	2028	c.1942_splice	c.e17-1	p.G648_splice	LAMA3_uc002kur.3_Splice_Site_p.G648_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	648	Domain V.|Laminin EGF-like 7.				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)	TGTTCTGCAGGGAGATGGTGA	0.423000														47			21		0	0	0.002299	0	0
COBL	23242	broad.mit.edu	37	7	51111119	51111119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:51111119G>A	uc003tps.3	-	8	1723	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	COBL_uc003tpr.4_Missense_Mutation_p.P456L|COBL_uc011kcl.2_Missense_Mutation_p.P456L|COBL_uc010kzc.3_Missense_Mutation_p.P456L|COBL_uc003tpp.4_Missense_Mutation_p.P242L|COBL_uc003tpq.4_Missense_Mutation_p.P397L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	456										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTCCCACAAGGGGCTCTTCTG	0.552000														111			45		0	0	0.003610	0	0
RGPD5	84220	broad.mit.edu	37	2	113147112	113147112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113147112G>A	uc002ths.2	-	19	3602	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	RGPD5_uc010fkk.2_Missense_Mutation_p.S997F|RGPD5_uc002tht.1_Missense_Mutation_p.S388F	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1137	RanBD1 1.				intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						ATCACCATCAGAGAAATCACT	0.453000														266			25		0	0	0.005524	0	0
C2orf77	129881	broad.mit.edu	37	2	170537609	170537609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:170537609C>T	uc002ufe.2	-	1	296	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	68										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						CATGCTGCTTCTCTTGTCAAC	0.428000														62			26		0	0	0.001512	0	0
TTLL7	79739	broad.mit.edu	37	1	84408173	84408173	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:84408173C>T	uc001djc.3	-	6	1092	c.696G>A	c.(694-696)aaG>aaA	p.K232K	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	232	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTGGAATGTACTTCTCTGTAC	0.358000														12			12		0	0	0.002450	0	0
ALPL	249	broad.mit.edu	37	1	21894741	21894741	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21894741G>A	uc001bet.3	+	7	1049	c.792_splice	c.e7+1	p.K264_splice	ALPL_uc010odo.2_Splice_Site_p.K209_splice|ALPL_uc010odp.2_Splice_Site_p.K187_splice|ALPL_uc010odn.2_Splice_Site_p.K212_splice|ALPL_uc001beu.4_Splice_Site_p.K264_splice	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	264					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGATACAAGGTAGCCTGTGC	0.572000														10			12		0	0	0.001855	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89682	89682	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000209.1:89682G>A	uc002quk.1	+	3	622	c.567G>A	c.(565-567)ggG>ggA	p.G189G	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	189							receptor activity										CCCACGGAGGGACCTACACAT	0.602000														261			45		0	0	0.003610	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579502	44579502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44579502G>A	uc003tlb.3	-	1	550	c.494C>T	c.(493-495)gCc>gTc	p.A165V	NPC1L1_uc011kbw.2_Missense_Mutation_p.A165V|NPC1L1_uc003tlc.3_Missense_Mutation_p.A165V|NPC1L1_uc003tld.3_Missense_Mutation_p.A165V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	165					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTCTGCTCGGCAAAGCTATG	0.602000														24			48		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9056574	9056574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9056574G>A	uc002mkp.3	-	2	31076	c.30872C>T	c.(30871-30873)aCc>aTc	p.T10291I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10293	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCCAGTGGTGGCAAATGA	0.512000														55			24		0	0	0.004656	0	0
OR2T1	26696	broad.mit.edu	37	1	248569430	248569430	+	Silent	SNP	C	T	T	rs145103744		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248569430C>T	uc010pzm.2	+	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45I(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCTTATATCGGCACAACTG	0.378000														123			27		0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:2820090C>T	uc022aqr.1	-	60	9916	c.9526G>A	c.(9526-9528)Gaa>Aaa	p.E3176K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2506K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1068K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3177	Sushi 26.					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)		AAGAAGACTTCGGACTTATAG	0.522000														3			14		0	0	0.004007	0	0
PTPN22	26191	broad.mit.edu	37	1	114401651	114401651	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:114401651G>A	uc001eds.3	-	2	376	c.246C>T	c.(244-246)tcC>tcT	p.S82S	LOC100287722_uc001edv.1_Intron|PTPN22_uc021orx.1_Silent_p.S82S|PTPN22_uc009wgq.3_Silent_p.S82S|PTPN22_uc021ory.1_Silent_p.S82S|PTPN22_uc010owo.2_5'UTR|PTPN22_uc001edt.3_Silent_p.S82S|PTPN22_uc009wgr.2_Silent_p.S82S|PTPN22_uc009wgs.2_Silent_p.S82S|PTPN22_uc001edu.2_Silent_p.S82S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	82	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGTAGCTGGAATCCTCAT	0.398000														22			15		0	0	0.004007	0	0
CACNA1D	776	broad.mit.edu	37	3	53757543	53757543	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:53757543C>T	uc003dgv.4	+	12	1912	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	CACNA1D_uc003dgu.4_Silent_p.F603F|CACNA1D_uc003dgy.4_Silent_p.F583F|CACNA1D_uc003dgw.4_Silent_p.F250F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	583					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGCATATTTCGTCTCTCTTT	0.488000														132			41		0	0	0.002222	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029956	95029956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:95029956C>T	uc010avd.3	+	1	522	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SERPINA4_uc001ydk.3_Missense_Mutation_p.S46F|SERPINA4_uc001ydl.3_Missense_Mutation_p.S46F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	46					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.S83S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGTGAGGGCTCCCCCAGCCTC	0.567000														32			18		0	0	0.007413	0	0
NR5A1	2516	broad.mit.edu	37	9	127262369	127262369	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127262369C>A	uc004boo.1	-	4	1057	c.870_splice	c.e4+1	p.E290_splice	NR5A1_uc022bnh.1_Splice_Site_p.E290_splice	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	290	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGAGACTCACCTCCAGCTCCT	0.642000														34			12		2.31682e-05	3.64811e-05	0.003163	1	0
CDH8	1006	broad.mit.edu	37	16	61855009	61855009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:61855009G>A	uc002eog.2	-	5	1799	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CDH8_uc002eoh.3_Missense_Mutation_p.H51Y	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	282	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y281H(1)		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)		ACTGAGAAGTGATACAGGCCT	0.403000														16			15		0	0	0.004007	0	0
C10orf120	399814	broad.mit.edu	37	10	124458905	124458905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124458905G>A	uc001lgn.3	-	1	232	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	67										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)				CCGTGGGTCTGATCTGTAGAA	0.502000														34			20		0	0	0.002780	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:68857449G>A	uc001jmz.1	+	2	2191	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	547						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTTTGAAACGAATGCACAGG	0.463000														57			28		0	0	0.007291	0	0
MAML3	55534	broad.mit.edu	37	4	140811507	140811508	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:140811507_140811508GG>AA	uc021xsg.1	-	1	1834_1835	c.1082_1083CC>TT	c.(1081-1083)ccc>cTT	p.P361L	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	361					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GAGAGTGAGAGGGGTCGCTCTT	0.554000														50			12		0	0	0.004672	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117311214C>T	uc001egu.4	+	4	894	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	289	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000														21			14		0	0	0.003163	0	0
OR8H3	390152	broad.mit.edu	37	11	55890114	55890114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55890114C>T	uc001nii.1	+	0	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	89					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)					TTACTGACTTCCAACTATATT	0.428000														149			141		0	0	0.003610	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871644	15871644	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15871644G>A	uc002nbo.3	-	8		c.1364C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		GCAGAGAAGGGAATAAAAGCC	0.567000														54			5		0	0	0.000602	0	0
C1orf94	84970	broad.mit.edu	37	1	34677979	34677979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34677979C>T	uc001bxt.3	+	5	2531	c.1693C>T	c.(1693-1695)Ccg>Tcg	p.P565S	C1orf94_uc001bxs.4_Missense_Mutation_p.P375S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	375							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGAGATGGACCGCAGTACCT	0.572000														18			7		0	0	0.004482	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21294544	21294544	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21294544G>A	uc001req.4	+	1	140	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	12					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAACAGCAGAGGCACAACCTT	0.299000														32			18		0	0	0.003330	0	0
FAM55D	54827	broad.mit.edu	37	11	114453476	114453476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:114453476C>T	uc001ppc.3	-	2	545	c.364G>A	c.(364-366)Gag>Aag	p.E122K	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	122						extracellular region		p.E122D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TCCCTCACCTCCAGCAGGATG	0.597000														9			15		0	0	0.004007	0	0
ALK	238	broad.mit.edu	37	2	29754793	29754793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29754793G>A	uc002rmy.3	-	3	2094	c.1142C>T	c.(1141-1143)cCa>cTa	p.P381L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	381	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATGCTTCCCTGGAGTGGGCAT	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					18			27		0	0	0.007291	0	0
TRHR	7201	broad.mit.edu	37	8	110100443	110100443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110100443G>A	uc003ymz.4	+	0	791	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	234						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)			CTAAGACATGGAAAAATGATT	0.378000														17			13		0	0	0.002450	0	0
ODZ2	57451	broad.mit.edu	37	5	167553802	167553802	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167553802G>A	uc010jjd.3	+	11	2253	c.2253G>A	c.(2251-2253)ggG>ggA	p.G751G	ODZ2_uc003lzr.4_Silent_p.G519G|ODZ2_uc003lzt.4_Silent_p.G115G|ODZ2_uc010jje.3_Silent_p.G22G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCTGCATCGGGGGAGCCTGCC	0.572000														14			6		0	0	0.004482	0	0
DENND4C	55667	broad.mit.edu	37	9	19299242	19299242	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:19299242G>C	uc003znq.3	+	3	495	c.415G>C	c.(415-417)Gca>Cca	p.A139P	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	139	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTCCATGATGCATTAATATT	0.269000														4			7		0	0	0.006214	0	0
SF3A3	10946	broad.mit.edu	37	1	38435130	38435130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:38435130G>A	uc001cci.3	-	13	1301	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	SF3A3_uc010oik.2_Missense_Mutation_p.P340S	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	393					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCAGTAGGGAATAGGCTAA	0.413000														29			27		0	0	0.007291	0	0
PCSK5	5125	broad.mit.edu	37	9	78638706	78638706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78638706C>T	uc004akc.2	+	3	1002	c.464C>T	c.(463-465)gCc>gTc	p.A155V	PCSK5_uc004ajy.2_Missense_Mutation_p.A155V|PCSK5_uc004ajz.3_Missense_Mutation_p.A155V|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	155	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATCGAAGGAGCCTGGAAGAGA	0.453000														31			21		0	0	0.003954	0	0
TRIP12	9320	broad.mit.edu	37	2	230661346	230661346	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:230661346G>A	uc002vpx.1	-	24	3805	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I	TRIP12_uc021vxw.1_Silent_p.I1217I|TRIP12_uc002vpy.1_Silent_p.I914I|TRIP12_uc002vpw.1_Silent_p.I1184I|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTTTAATCTGATCTCTCTGC	0.333000														19			11		0	0	0.003163	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121090	114121090	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:114121090G>T	uc001pop.3	+	6	2099	c.1835G>T	c.(1834-1836)cGg>cTg	p.R612L	ZBTB16_uc001poq.3_Missense_Mutation_p.R612L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAGCGCTCCCGGGACTACTCG	0.617000														16			19		1.64293e-13	2.60726e-13	0.003330	1	0
OR4D2	124538	broad.mit.edu	37	17	56247806	56247806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56247806C>T	uc010wnp.2	+	0	790	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCCTTCACTCCATTCCCTAT	0.547000														86			45		0	0	0.003610	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040547	103040547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103040547C>T	uc002tbx.3	+	3	831	c.347C>T	c.(346-348)cCa>cTa	p.P116L	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	116					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTTTTGACCCCAGGGGTGAAT	0.373000														14			24		0	0	0.003330	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652648	62652649	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:62652648_62652649GG>AA	uc001jli.3	-	5	839_840	c.401_402CC>TT	c.(400-402)ccc>cTT	p.P134L	RHOBTB1_uc009xpe.2_Intron|RHOBTB1_uc001jlh.3_Missense_Mutation_p.P134L|RHOBTB1_uc001jlj.3_Missense_Mutation_p.P134L|RHOBTB1_uc001jlk.3_Missense_Mutation_p.P134L	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	134	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAAGGATAACGGGTGTTCGAGG	0.495000														62			12		0	0	0.004672	0	0
OR10G4	390264	broad.mit.edu	37	11	123887152	123887152	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:123887152A>T	uc010sac.2	+	0	871	c.871A>T	c.(871-873)Aac>Tac	p.N291Y		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		CACCCTGAGAAACAAGGAGGT	0.433000														14			20		0	0	0.003330	0	0
LGALS12	85329	broad.mit.edu	37	11	63273900	63273900	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63273900G>A	uc001nxc.2	+	0	377	c.36G>A	c.(34-36)acG>acA	p.T12T	LGALS12_uc001nxa.2_Silent_p.T12T|LGALS12_uc001nxb.2_Silent_p.T12T|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	12					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTCCTGGAACGAGGATCTACA	0.572000														47			20		0	0	0.001882	0	0
FAM151A	338094	broad.mit.edu	37	1	55077409	55077409	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55077409C>T	uc001cxn.3	-	5	942	c.810G>A	c.(808-810)ctG>ctA	p.L270L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	270						integral to membrane		p.L270R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GCCACAGCGTCAGGCTGTACC	0.602000														43			19		0	0	0.002299	0	0
CELSR3	1951	broad.mit.edu	37	3	48696450	48696450	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48696450G>A	uc003cuf.1	-	2	3828	c.3828C>T	c.(3826-3828)ctC>ctT	p.L1276L	CELSR3_uc003cul.3_Silent_p.L1206L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1206					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)		AGGAGTAGAAGAGGTGGTCGG	0.547000														26			8		0	0	0.004482	0	0
THRAP3	9967	broad.mit.edu	37	1	36754862	36754862	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36754862C>T	uc001cae.4	+	4	1466	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	THRAP3_uc001caf.4_Silent_p.L414L|THRAP3_uc001cag.1_Silent_p.L414L	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	414					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATAAGCTCCGAGATGACT	0.438000			T	USP6	aneurysmal bone cysts									34			20		0	0	0.001216	0	0
OR51I1	390063	broad.mit.edu	37	11	5462354	5462354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:5462354G>A	uc010qze.2	-	0	430	c.391C>T	c.(391-393)Cca>Tca	p.P131S	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.	131					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)		TAGCGTAATGGATAACAAATA	0.478000														7			26		0	0	0.005443	0	0
GAD2	2572	broad.mit.edu	37	10	26513537	26513537	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26513537C>T	uc001isp.2	+	5	1184	c.681C>T	c.(679-681)atC>atT	p.I227I	GAD2_uc001isq.2_Silent_p.I227I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	227					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGAGAGAAATCATTGGCTGGC	0.393000														37			17		0	0	0.004007	0	0
WNK4	65266	broad.mit.edu	37	17	40946635	40946635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40946635G>A	uc002ibj.3	+	12	2367	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	WNK4_uc010wgx.2_Missense_Mutation_p.E431K|WNK4_uc002ibk.1_Missense_Mutation_p.E539K	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	767					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCTCAGGAGGAGCCAGCACC	0.577000														16			10		0	0	0.000673	0	0
CD109	135228	broad.mit.edu	37	6	74519803	74519803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:74519803C>T	uc003php.3	+	26	3883	c.3452C>T	c.(3451-3453)tCa>tTa	p.S1151L	CD109_uc003phq.3_Missense_Mutation_p.S1151L|CD109_uc010kba.3_Missense_Mutation_p.S1074L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1151						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACTGCTCTCACACTTCTTA	0.483000														3			32		0	0	0.004878	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37777687	37777687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:37777687C>T	uc004aai.3	+	8	1011	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	RG9MTD3_uc011lqo.2_Missense_Mutation_p.R252W|RG9MTD3_uc011lqp.2_Missense_Mutation_p.R225W|RG9MTD3_uc011lqq.2_Missense_Mutation_p.R192W|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Missense_Mutation_p.R217W	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	312							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CTATATTCTTCGGAACTCAGT	0.483000														17			10		0	0	0.006214	0	0
ZFAT	57623	broad.mit.edu	37	8	135614441	135614441	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:135614441G>A	uc003yup.3	-	5	1707	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	ZFAT_uc003yun.3_Silent_p.I495I|ZFAT_uc003yuo.3_Silent_p.I495I|ZFAT_uc010meh.3_Silent_p.I495I|ZFAT_uc010mej.3_Silent_p.I445I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I495I|ZFAT_uc003yur.3_Silent_p.I495I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.V507A(8)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCTTGCTGGATGTCCCCAC	0.602000														14			15		0	0	0.004007	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296553	39296553	+	Missense_Mutation	SNP	G	A	A	rs73983172	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39296553G>A	uc010cxk.2	-	0	187	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	63	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagcagctgggacggcagcAG	0.667000														50			32		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179400315	179400315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179400315C>T	uc021vsy.1	-	306	93548	c.93323G>A	c.(93322-93324)gGa>gAa	p.G31108E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G24803E|TTN_uc021vta.1_Missense_Mutation_p.G24736E|TTN_uc021vtb.1_Missense_Mutation_p.G24611E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32035	Ig-like 139.						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)			CTGATCAATTCCAAATCTGTT	0.423000														37			17		0	0	0.007413	0	0
ACOT11	26027	broad.mit.edu	37	1	55050413	55050413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55050413G>A	uc001cxm.2	+	1	295	c.119G>A	c.(118-120)gGa>gAa	p.G40E	ACOT11_uc001cxj.2_5'UTR|ACOT11_uc001cxk.3_Missense_Mutation_p.G6E|ACOT11_uc001cxl.2_Missense_Mutation_p.G40E	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	40	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GACGGCGAGGGATACCGGAAC	0.632000														17			5		0	0	0.000602	0	0
ZNF512	84450	broad.mit.edu	37	2	27824259	27824259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27824259C>T	uc002rla.3	+	6	706	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ZNF512_uc010ylw.2_Missense_Mutation_p.R178C|ZNF512_uc002rlb.3_Missense_Mutation_p.R128C|ZNF512_uc010ylx.2_Missense_Mutation_p.R128C|ZNF512_uc002rlc.3_Missense_Mutation_p.R128C|ZNF512_uc010ylv.2_Missense_Mutation_p.R128C|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.R100C	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R207H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAACAACTTCGTTCACTGGC	0.378000														82			24		0	0	0.001786	0	0
PKP2	5318	broad.mit.edu	37	12	32993972	32993972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32993972C>T	uc001rlj.4	-	6	1793	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	PKP2_uc001rlk.4_Missense_Mutation_p.G516R|PKP2_uc010skj.2_Missense_Mutation_p.G516R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	560					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTAGGCATCCAGTGACGTTG	0.443000														108			43		0	0	0.003610	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913068	29913068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29913068G>A	uc002dut.3	+	0	922	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	259					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CAAGCAGGCCGGTGCCAACCC	0.667000														20			7		0	0	0.001984	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947249	45947249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45947249C>T	uc002zfe.1	-	6	1141	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	TSPEAR_uc010gpv.1_Missense_Mutation_p.E291K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	359					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACGAACTTCTCTTCGGTCCAC	0.552000														101			17		0	0	0.001216	0	0
ATP7B	540	broad.mit.edu	37	13	52548897	52548897	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52548897G>A	uc001vfw.2	-	1	616	c.459C>T	c.(457-459)acC>acT	p.T153T	ATP7B_uc001vfy.2_Silent_p.T153T|ATP7B_uc010adv.2_Silent_p.T153T|ATP7B_uc001vfx.2_Silent_p.T153T|ATP7B_uc010tgt.1_Silent_p.T153T|ATP7B_uc010tgu.1_Silent_p.T153T|ATP7B_uc010tgv.1_Silent_p.T153T|ATP7B_uc010tgw.1_Silent_p.T121T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	153	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGGACTGGCAGGTCATGCCCT	0.582000									Wilson disease					28			10		0	0	0.000673	0	0
SUN5	140732	broad.mit.edu	37	20	31585481	31585481	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31585481A>T	uc002wyi.3	-	5	446	c.353T>A	c.(352-354)tTt>tAt	p.F118Y		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	118					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTGAATAGAAAACATCCAGAA	0.473000														48			22		0	0	0.002780	0	0
ANK3	288	broad.mit.edu	37	10	61830713	61830713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61830713G>A	uc001jky.3	-	36	10264	c.9926C>T	c.(9925-9927)cCt>cTt	p.P3309L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3309					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCCCCGGGAGGAACTGGTGA	0.443000														87			22		0	0	0.004656	0	0
QRICH1	54870	broad.mit.edu	37	3	49114439	49114439	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49114439G>A	uc010hkq.3	-	2	308	c.12C>T	c.(10-12)tcC>tcT	p.S4S	QRICH1_uc003cvu.3_Silent_p.S4S|QRICH1_uc003cvv.3_Silent_p.S4S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	4	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTCTCTAGGGAATTATTCA	0.428000														87			21		0	0	0.001882	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839562	100839562	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100839562G>A	uc003uyc.3	-	5	944	c.777C>T	c.(775-777)ctC>ctT	p.L259L	MOGAT3_uc010lhr.3_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	259					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)					AGAAGCCCATGAGCTTCTTGA	0.567000														4			36		0	0	0.004289	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321182	79321182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79321182G>A	uc010mpk.3	-	7	6132	c.6008C>T	c.(6007-6009)tCa>tTa	p.S2003L	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.S1825L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2003					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTAGGTATGATTTTTCTTG	0.413000														21			14		0	0	0.004007	0	0
WDR72	256764	broad.mit.edu	37	15	53992010	53992010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:53992010C>T	uc002acj.2	-	12	1744	c.1702G>A	c.(1702-1704)Gtt>Att	p.V568I	WDR72_uc010bfi.1_Missense_Mutation_p.V568I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	568										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAATTCTCAACCGGGTGCCAT	0.418000														145			114		0	0	0.003610	0	0
MED1	5469	broad.mit.edu	37	17	37583963	37583963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37583963C>T	uc002hrv.4	-	9	942	c.730G>A	c.(730-732)Gag>Aag	p.E244K	MED1_uc010wee.2_Missense_Mutation_p.E72K|MED1_uc002hru.2_Missense_Mutation_p.E244K	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	244	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATTATTCTCATGCAAAATG	0.353000										HNSCC(31;0.082)				25			18		0	0	0.002780	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045623	42045623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:42045623G>A	uc001cgz.4	-	3	6059	c.4846C>T	c.(4846-4848)Cac>Tac	p.H1616Y	HIVEP3_uc001cha.4_Missense_Mutation_p.H1616Y|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1616					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCTGGATGTGATTTGGCTTA	0.473000														50			36		0	0	0.004878	0	0
MGAM	8972	broad.mit.edu	37	7	141800622	141800622	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:141800622T>C	uc003vwy.3	+	44	5261	c.5207T>C	c.(5206-5208)tTc>tCc	p.F1736S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1736	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCATGGGCTTCAAAATTGCC	0.478000														34			8		0	0	0.004482	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455097	74455097	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:74455097G>A	uc002fct.3	-	0	272	c.72C>T	c.(70-72)acC>acT	p.T24T	CLEC18B_uc002fcu.3_Silent_p.T24T|CLEC18B_uc010vmu.1_Silent_p.T24T|CLEC18B_uc010vmw.1_Silent_p.T24T	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	24						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCTGCCCAGGTGGTGCCAA	0.667000														92			24		0	0	0.003954	0	0
MYOCD	93649	broad.mit.edu	37	17	12656151	12656151	+	Missense_Mutation	SNP	G	A	A	rs146033223		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:12656151G>A	uc002gno.2	+	9	1845	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	MYOCD_uc002gnn.2_Missense_Mutation_p.E516K|MYOCD_uc002gnp.1_Missense_Mutation_p.E420K|MYOCD_uc002gnq.2_Missense_Mutation_p.E235K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	516					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			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)		GCTGGACTCCGAGAAGGACAA	0.582000														14			14		0	0	0.002450	0	0
NYAP1	222950	broad.mit.edu	37	7	100084532	100084532	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100084532C>A	uc003uvd.1	+	2	316	c.157C>A	c.(157-159)Cgg>Agg	p.R53R	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	53																	CGCCTCGCTGCGGCGCTCCCT	0.736000														21			5		0.000602214	0.000945176	0.000602	1	0
KCNH7	90134	broad.mit.edu	37	2	163241343	163241343	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:163241343G>A	uc002uch.2	-	12	3046	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	939					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)	CATCAATGGAGGAGATGAAAG	0.418000														59			39		0	0	0.002852	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389876	136389876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:136389876G>A	uc011mdk.2	-	0	193	c.91C>T	c.(91-93)Cac>Tac	p.H31Y		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	31						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCCTCCATGTGGAACCGCCTC	0.652000														38			11		0	0	0.000978	0	0
BOK	666	broad.mit.edu	37	2	242509595	242509595	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242509595G>A	uc002wbq.3	+	3	697	c.405G>A	c.(403-405)gtG>gtA	p.V135V	BOK_uc002wbr.3_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	Homo sapiens BCL2-related ovarian killer (BOK), mRNA.	135					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCTGGCCGTGGACTGTGTGA	0.667000														6			3		0	0	0.004672	0	0
VTCN1	79679	broad.mit.edu	37	1	117753470	117753470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117753470G>A	uc001ehb.3	-	0	113	c.8C>T	c.(7-9)tCc>tTc	p.S3F	VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Missense_Mutation_p.S3F	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	3						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTGCCCCAGGGAAGCCATGGC	0.557000														33			16		0	0	0.004990	0	0
ZNF594	84622	broad.mit.edu	37	17	5085852	5085852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5085852G>A	uc010cla.1	-	1	1856	c.1700C>T	c.(1699-1701)gCt>gTt	p.A567V	ZNF594_uc021tol.1_Missense_Mutation_p.A567V	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACACCAATAAGCTTTCGCTTC	0.458000														52			75		0	0	0.003610	0	0
SEMA6B	10501	broad.mit.edu	37	19	4554460	4554460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4554460C>T	uc010dud.2	-	8	973	c.711G>A	c.(709-711)tgG>tgA	p.W237*	SEMA6B_uc010xih.1_Nonsense_Mutation_p.W237*	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	237	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGCTGCCCCACTCCACCG	0.557000														32			23		0	0	0.003954	0	0
COL22A1	169044	broad.mit.edu	37	8	139628273	139628273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139628273G>A	uc003yvd.3	-	54	4342	c.3895C>T	c.(3895-3897)Cct>Tct	p.P1299S	COL22A1_uc011ljo.2_Missense_Mutation_p.P579S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1299	Collagen-like 12.|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)			TCCTGACCAGGAAGCCCCATG	0.572000										HNSCC(7;0.00092)				22			36		0	0	0.002222	0	0
CDC27	996	broad.mit.edu	37	17	45219350	45219350	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45219350A>C	uc002ile.4	-	11	1565	c.1438T>G	c.(1438-1440)Tta>Gta	p.L480V	CDC27_uc002ild.4_Missense_Mutation_p.L474V|CDC27_uc002ilf.4_Missense_Mutation_p.L473V|CDC27_uc010wkp.2_Missense_Mutation_p.L413V|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	474					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACAAAGCTAAATAACCTTTC	0.378000														100			73		0	0	0.003610	0	0
DBC1	1620	broad.mit.edu	37	9	122011339	122011339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:122011339C>T	uc004bkc.2	-	2	764	c.308G>A	c.(307-309)aGg>aAg	p.R103K	DBC1_uc004bkd.2_Missense_Mutation_p.R103K	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	103	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCGGATGCTCCTTTGAAACTC	0.567000														40			10		0	0	0.000673	0	0
EXOC1	55763	broad.mit.edu	37	4	56768600	56768600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:56768600C>T	uc003hbe.1	+	17	2586	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	EXOC1_uc003hbf.1_Missense_Mutation_p.R810C|EXOC1_uc003hbg.1_Missense_Mutation_p.R795C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	810					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAAGAACTTCGTAAAGTCAT	0.383000														32			18		0	0	0.001216	0	0
FGD2	221472	broad.mit.edu	37	6	36979490	36979490	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:36979490C>T	uc010jwp.1	+	3	558	c.387C>T	c.(385-387)ttC>ttT	p.F129F	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	129	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGGTGTTTTTCCAGGAGCTGC	0.577000														42			69		0	0	0.003610	0	0
C5orf42	65250	broad.mit.edu	37	5	37201695	37201695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:37201695C>T	uc011cpa.1	-	18	3736	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.E244K|C5orf42_uc011cpb.1_Missense_Mutation_p.E50K	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1169										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGCTTACTTCACTAAGAATA	0.343000														24			47		0	0	0.003610	0	0
GPI	2821	broad.mit.edu	37	19	34890117	34890117	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34890117C>T	uc002nvf.3	+	15	1562	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	GPI_uc010xrv.2_Silent_p.L436L|GPI_uc002nvg.2_Silent_p.L425L|GPI_uc010xrw.2_Silent_p.L397L|GPI_uc002nvi.2_Silent_p.L88L	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	425					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ATCAGATCCTCCTGGCCAACT	0.597000														14			12		0	0	0.001855	0	0
GRK7	131890	broad.mit.edu	37	3	141497610	141497611	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:141497610_141497611CC>TT	uc011bnd.2	+	0	568_569	c.484_485CC>TT	c.(484-486)ccc>TTc	p.P162F		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	162	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAGAGCAGCCCTTTAAGGAT	0.550000														55			20		0	0	0.004672	0	0
RNF214	257160	broad.mit.edu	37	11	117152097	117152097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:117152097C>T	uc001pqt.3	+	8	1258	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	RNF214_uc001pqu.3_Missense_Mutation_p.R405W|RNF214_uc010rxf.2_Missense_Mutation_p.R250W	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	405							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAATGGAGTTCGGATAATGAA	0.423000														3			7		0	0	0.003080	0	0
ZAN	7455	broad.mit.edu	37	7	100391863	100391863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100391863C>T	uc003uwj.3	+	44	8270	c.8105C>T	c.(8104-8106)aCc>aTc	p.T2702I	ZAN_uc003uwk.3_Intron|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.T651I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2703	VWFC 5.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGAACCACACCCAAGGCTGC	0.647000														133			30		0	0	0.002096	0	0
MYLK	4638	broad.mit.edu	37	3	123419176	123419176	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:123419176G>A	uc003ego.3	-	17	3421	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	MYLK_uc011bjw.2_Silent_p.L1047L|MYLK_uc003egp.3_Silent_p.L978L|MYLK_uc003egq.3_Silent_p.L1047L|MYLK_uc003egr.3_Silent_p.L978L|MYLK_uc003egs.3_Silent_p.L871L|MYLK_uc003egt.3_Silent_p.L238L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1047	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGGGCTTCAGGGTCTCGGCA	0.547000														135			152		0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23884279	23884279	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23884279G>A	uc001wjx.3	-	36	5590	c.5484C>T	c.(5482-5484)gcC>gcT	p.A1828A		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1828					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)		GCTTCTGCTCGGCCTCCAGCT	0.652000														152			28		0	0	0.001786	0	0
NR6A1	2649	broad.mit.edu	37	9	127298174	127298175	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127298174_127298175GG>AA	uc004bor.1	-	6	1239_1240	c.1061_1062CC>TT	c.(1060-1062)tcc>tTT	p.S354F	NR6A1_uc004boq.1_Missense_Mutation_p.S349F|NR6A1_uc010mwq.1_Missense_Mutation_p.S350F	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	354					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GTTCTTCATCGGAGGGCGAGTA	0.530000														100			31		0	0	0.004672	0	0
RASA3	22821	broad.mit.edu	37	13	114766341	114766341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:114766341G>A	uc001vui.3	-	18	1941	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RASA3_uc010tkk.2_Missense_Mutation_p.R572C|RASA3_uc001vuj.3_Missense_Mutation_p.R221C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	604	PH.				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)			TTGGTCAAGCGAAACCATCTC	0.537000														20			37		0	0	0.002852	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325873	79325873	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79325873G>A	uc010mpk.3	-	7	1441	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	PRUNE2_uc022bih.1_Silent_p.S261S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	439					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCTCTCCTTGGATGAGCGGC	0.572000														13			9		0	0	0.006214	0	0
MPP6	51678	broad.mit.edu	37	7	24705212	24705212	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24705212C>T	uc003swx.3	+	7	1088	c.789C>T	c.(787-789)agC>agT	p.S263S	MPP6_uc003swy.3_Silent_p.S263S	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	263	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TCTAGGCTAGCCATGTAAAAG	0.408000														94			31		0	0	0.001786	0	0
HEPH	9843	broad.mit.edu	37	X	65414953	65414953	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:65414953G>A	uc011moz.2	+	8	1682	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	HEPH_uc004dwn.3_Silent_p.R464R|HEPH_uc004dwo.3_Silent_p.R194R|HEPH_uc010nkr.3_Silent_p.R464R|HEPH_uc011mpa.2_Silent_p.R464R	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	461	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGTGATCCGGGCTGAGGTGG	0.502000														9			23		0	0	0.007291	0	0
MS4A6A	64231	broad.mit.edu	37	11	59947394	59947394	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59947394G>A	uc010rla.2	-	3	749	c.276C>T	c.(274-276)atC>atT	p.I92I	MS4A6A_uc001noq.3_Silent_p.I64I|MS4A6A_uc009ymv.3_Silent_p.I64I|MS4A6A_uc001not.3_Silent_p.I64I|MS4A6A_uc010rlb.2_Intron	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	64						integral to membrane	receptor activity	p.P92P(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCCAAAATGATCCCCAAGC	0.433000														20			4		0	0	0.000602	0	0
MTMR7	9108	broad.mit.edu	37	8	17218671	17218671	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17218671G>A	uc003wxm.3	-	3	662	c.423C>T	c.(421-423)ctC>ctT	p.L141L		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	141	Myotubularin phosphatase.						protein tyrosine phosphatase activity	p.L141F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AATGATTAGGGAGGCCCATCC	0.473000														21			15		0	0	0.004990	0	0
FREM2	341640	broad.mit.edu	37	13	39451349	39451349	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:39451349C>T	uc001uwv.3	+	20	8949	c.8640C>T	c.(8638-8640)ttC>ttT	p.F2880F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2880					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCATGGGATTCGGGCAAGAGA	0.438000														87			50		0	0	0.003610	0	0
HELB	92797	broad.mit.edu	37	12	66703831	66703831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66703831C>T	uc001sti.2	+	3	1151	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	375					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAAGAAACCTCCTTGGCATTT	0.438000														568			50		0	0	0.003610	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359717	48359717	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48359717C>T	uc001rqp.3	+	3	463	c.348C>T	c.(346-348)gaC>gaT	p.D116D	TMEM106C_uc001rqo.3_Silent_p.D116D|TMEM106C_uc001rqr.3_Silent_p.D116D|TMEM106C_uc001rqq.3_Silent_p.D116D	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	116						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGATGATGACGGCATCAAAG	0.463000														340			12		0	0	0.001368	0	0
TMC7	79905	broad.mit.edu	37	16	19049269	19049269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19049269C>T	uc002dfp.2	+	7	1209	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	TMC7_uc010vao.1_Silent_p.L354L|TMC7_uc002dfq.3_Missense_Mutation_p.S360F|TMC7_uc010vap.2_Missense_Mutation_p.S250F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	360						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGCATTTACTCTTTGAGACTG	0.393000														60			18		0	0	0.001216	0	0
CDH4	1002	broad.mit.edu	37	20	60448830	60448830	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60448830C>T	uc002ybn.2	+	6	1012	c.924C>T	c.(922-924)acC>acT	p.T308T	CDH4_uc002ybr.2_Silent_p.T271T|CDH4_uc002ybp.2_Silent_p.T234T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	308	Cadherin 2.				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)			ACGACAGCACCACGGCCAACG	0.607000														80			48		0	0	0.003214	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097711	43097711	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43097711C>A	uc002oud.2	-	1	508	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	136	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGAACTGGCCAGTTACTTCT	0.512000														110			7		0.000157383	0.000247384	0.003080	1	0
LAMP5	24141	broad.mit.edu	37	20	9496670	9496670	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9496670C>T	uc002wni.2	+	2	756	c.261C>T	c.(259-261)atC>atT	p.I87I	LAMP5_uc010zrc.2_Intron	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	87						integral to membrane											AGGCCGATATCGCATTGACCC	0.652000														3			3		0	0	0.000248	0	0
HRH4	59340	broad.mit.edu	37	18	22056938	22056938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:22056938G>A	uc002kvi.3	+	2	685	c.585G>A	c.(583-585)atG>atA	p.M195I	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.M107I	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	195						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ATTTCAACATGAATATTTATT	0.438000														89			30		0	0	0.001786	0	0
GRIA3	2892	broad.mit.edu	37	X	122538605	122538605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:122538605G>A	uc004etq.4	+	9	1632	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	GRIA3_uc004etr.4_Missense_Mutation_p.G447E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G431E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	447					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTGGAAGGAAATGAACGA	0.373000														3			33		0	0	0.004878	0	0
NFATC4	4776	broad.mit.edu	37	14	24845681	24845681	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24845681C>T	uc001wpc.3	+	8	2559	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P	NFATC4_uc010alr.3_Silent_p.P809P|NFATC4_uc010tok.2_Silent_p.P809P|NFATC4_uc010tol.2_Silent_p.P809P|NFATC4_uc010too.2_Silent_p.P759P|NFATC4_uc010tom.2_Silent_p.P759P|NFATC4_uc010ton.2_Silent_p.P759P|NFATC4_uc010toq.2_Silent_p.P778P|NFATC4_uc010alt.3_Silent_p.P778P|NFATC4_uc010top.2_Silent_p.P778P|NFATC4_uc010tor.2_Silent_p.P746P|NFATC4_uc010tos.2_Silent_p.P676P|NFATC4_uc010tot.2_Silent_p.P734P|NFATC4_uc010tou.2_Silent_p.P676P|NFATC4_uc010tov.2_Silent_p.P734P|NFATC4_uc010tow.2_Silent_p.P676P|NFATC4_uc010alv.3_Silent_p.P734P|NFATC4_uc010tox.2_Silent_p.P676P|NFATC4_uc001wpd.3_Silent_p.P281P|NFATC4_uc010toy.2_Silent_p.P281P|NFATC4_uc010toz.2_Silent_p.P281P|NFATC4_uc010tpa.2_Silent_p.P34P|NFATC4_uc010tpb.2_Silent_p.P34P	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	746	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATGGCATGCCCCCTCTGTACC	0.617000														36			33		0	0	0.003271	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923992	25923992	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:25923992G>A	uc011dkb.2	-	1	254	c.171C>T	c.(169-171)gcC>gcT	p.A57A	SLC17A2_uc011dkc.2_Silent_p.A57A|SLC17A2_uc003nfl.3_Silent_p.A57A			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	57					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGTGGAGGCATTAGATA	0.458000														180			30		0	0	0.002445	0	0
AGAP3	116988	broad.mit.edu	37	7	150841005	150841005	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150841005T>C	uc003wjg.1	+	17	2714	c.2711T>C	c.(2710-2712)cTg>cCg	p.L904P	AGAP3_uc003wje.1_Missense_Mutation_p.L573P|AGAP3_uc003wjj.1_Missense_Mutation_p.L403P|AGAP3_uc003wjk.1_Missense_Mutation_p.L322P	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	868					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.E903*(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTGCTGAGCTGCACCGTAGT	0.622000														92			15		0	0	0.003163	0	0
PPRC1	23082	broad.mit.edu	37	10	103899555	103899555	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103899555C>T	uc001kum.3	+	4	1329	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	PPRC1_uc001kun.3_Silent_p.P310P|PPRC1_uc010qqj.2_Silent_p.P430P|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TATTGAAGCCCAGGGAGGTCG	0.572000														42			18		0	0	0.004990	0	0
GTF3C1	2975	broad.mit.edu	37	16	27473718	27473718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:27473718G>A	uc002dov.2	-	35	6054	c.6014C>T	c.(6013-6015)gCc>gTc	p.A2005V	GTF3C1_uc002dou.3_Missense_Mutation_p.A1980V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	2005						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTACAGCATGGCCTCCATCAT	0.632000														5			11		0	0	0.000673	0	0
GCOM1	145781	broad.mit.edu	37	15	57896505	57896505	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:57896505G>A	uc002aei.3	+	1	245	c.114G>A	c.(112-114)gaG>gaA	p.E38E	GCOM1_uc002aej.3_Silent_p.E38E|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.E38E|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.E38E	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	38					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TACCTCCTGAGAGTCCAGTTC	0.493000														152			128		0	0	0.003610	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539830	169539830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:169539830C>T	uc003fgb.3	+	0	121	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GACTGCCATTCCTTTGGAGAT	0.378000														71			29		0	0	0.002836	0	0
MUC21	394263	broad.mit.edu	37	6	30951752	30951752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30951752G>A	uc003nsh.2	+	0	268	c.17G>A	c.(16-18)gGa>gAa	p.G6E	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_5'Flank	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	6						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATGCAGAAAGGAAATGTTCTC	0.428000														82			25		0	0	0.001512	0	0
PUS7L	83448	broad.mit.edu	37	12	44148400	44148400	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:44148400C>G	uc001rns.4	-	1	729	c.649G>C	c.(649-651)Gac>Cac	p.D217H	PUS7L_uc001rnq.4_Missense_Mutation_p.D217H|PUS7L_uc001rnr.4_Missense_Mutation_p.D217H|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.	217					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)		TTAAAAAAGTCAAATGCTTCC	0.299000														79			16		0	0	0.003163	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48559767C>T	uc002iqw.1	+	3	846	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			22		0	0	0.002299	0	0
SCN1A	6323	broad.mit.edu	37	2	166866246	166866246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166866246G>A	uc002udo.4	-	21	4212	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R1301*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R1318*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1329						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1318R(1)|p.R1329R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTTCAAATCGAGATAAGGCT	0.358000														25			11		0	0	0.000978	0	0
ETV1	2115	broad.mit.edu	37	7	13971235	13971235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:13971235G>A	uc021zzz.1	-	6	781	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	ETV1_uc021zzt.1_Missense_Mutation_p.H192Y|ETV1_uc021zzu.1_Missense_Mutation_p.H129Y|ETV1_uc021zzv.1_Missense_Mutation_p.H174Y|ETV1_uc021zzw.1_Missense_Mutation_p.H192Y|ETV1_uc021zzx.1_Missense_Mutation_p.H129Y|ETV1_uc021zzy.1_Missense_Mutation_p.H174Y|ETV1_uc022aaa.1_Missense_Mutation_p.H214Y|ETV1_uc022aab.1_Missense_Mutation_p.H232Y|ETV1_uc003ssw.4_Missense_Mutation_p.H232Y|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.H214Y|ETV1_uc022aad.1_Missense_Mutation_p.H214Y|ETV1_uc010ktv.3_Missense_Mutation_p.H101Y	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	232					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H232H(1)|p.H232L(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACTGGGTCGTGGTACTCCTGC	0.522000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									25			45		0	0	0.003610	0	0
PHF20	51230	broad.mit.edu	37	20	34446251	34446251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:34446251G>A	uc002xek.1	+	4	479	c.368G>A	c.(367-369)gGa>gAa	p.G123E	PHF20_uc002xei.1_Missense_Mutation_p.G123E|PHF20_uc010gfo.1_Missense_Mutation_p.G123E|PHF20_uc002xej.1_Intron|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TTTTATGATGGAGTAGTTCAG	0.303000														75			39		0	0	0.002222	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298036	38298036	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:38298036C>T	uc002rqo.2	-	2	1863	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	487					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACTGGTGAGCCAGGATGGAGA	0.443000														34			17		0	0	0.001216	0	0
DMBT1	1755	broad.mit.edu	37	10	124377614	124377615	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124377614_124377615CC>TT	uc001lgk.1	+	37	4692_4693	c.4586_4587CC>TT	c.(4585-4587)tcc>tTT	p.S1529F	DMBT1_uc001lgl.1_Missense_Mutation_p.S1519F|DMBT1_uc001lgm.1_Missense_Mutation_p.S901F|DMBT1_uc021qaf.1_Missense_Mutation_p.S1529F|DMBT1_uc021qag.1_Missense_Mutation_p.S1519F|DMBT1_uc021qah.1_Missense_Mutation_p.S901F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1529F|DMBT1_uc010qtx.1_Missense_Mutation_p.S380F|DMBT1_uc009yab.1_Missense_Mutation_p.S232F|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1529	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAAGGCTCCTGGGGCACCG	0.584000														278			87		0	0	0.004672	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651255	156651255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156651255G>A	uc003iov.3	+	10	2481	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	GUCY1A3_uc010iqd.3_Missense_Mutation_p.E648K|GUCY1A3_uc003iow.3_Missense_Mutation_p.E649K|GUCY1A3_uc003iox.3_Missense_Mutation_p.E649K|GUCY1A3_uc010iqe.3_Missense_Mutation_p.E414K|GUCY1A3_uc003ioy.3_Missense_Mutation_p.E649K|GUCY1A3_uc003ioz.3_Missense_Mutation_p.E414K|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.E649K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	649					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)		CTTCCCTAGTGAAATCCCCGG	0.403000														46			41		0	0	0.002852	0	0
KIF13B	23303	broad.mit.edu	37	8	29025003	29025003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:29025003G>A	uc003xhh.4	-	10	1104	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	KIF13B_uc003xhj.2_Nonsense_Mutation_p.R246*|KIF13B_uc010lvf.1_Nonsense_Mutation_p.R285*	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	349					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGCTTGGCTCGATCTGCATAC	0.537000														76			27		0	0	0.003954	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203063	140203063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140203063G>A	uc003lhl.2	+	0	1703	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	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_uc003lhk.1_Missense_Mutation_p.R568Q|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R568Q	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	582	Cadherin 5.				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)			CTGGTGCCTCGAGTGGGTGGC	0.721000														77			17		0	0	0.006122	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137343	40137343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:40137343G>A	uc021qgf.1	-	0	500	c.500C>T	c.(499-501)gCt>gTt	p.A167V	LRRC4C_uc001mxc.1_Missense_Mutation_p.A163V|LRRC4C_uc001mxd.1_Missense_Mutation_p.A163V|LRRC4C_uc001mxa.1_Missense_Mutation_p.A167V|LRRC4C_uc001mxb.1_Missense_Mutation_p.A163V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	167					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCTGTTAAAAGCATAAGAAGG	0.428000														41			13		0	0	0.002450	0	0
CCDC171	203238	broad.mit.edu	37	9	15578922	15578922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:15578922G>A	uc011lmu.2	+	2	364	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CCDC171_uc010mih.1_Missense_Mutation_p.E85K|CCDC171_uc003zmd.3_Missense_Mutation_p.E85K|CCDC171_uc003zme.3_5'UTR|CCDC171_uc003zmc.2_Missense_Mutation_p.E85K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	85																	ACAAAGTCTGGAATATGACCT	0.473000														16			14		0	0	0.002450	0	0
CR1	1378	broad.mit.edu	37	1	207679396	207679396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207679396C>T	uc001hfy.3	+	1	409	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CR1_uc009xcl.1_Missense_Mutation_p.S90L|CR1_uc001hfx.3_Missense_Mutation_p.S90L|CR1_uc021pij.1_Missense_Mutation_p.S90L|CR1_uc010psg.1_Missense_Mutation_p.S90L|CR1_uc009xcj.1_Missense_Mutation_p.S90L|CR1_uc009xck.1_Missense_Mutation_p.S90L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	90	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.S95L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTAAAAAACTCAGTCTGGACT	0.438000														52			112		0	0	0.003610	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52249761G>A	uc021uyn.1	-	2	633	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_uc002pxq.3_Missense_Mutation_p.R163C|FPR1_uc021uyo.1_Missense_Mutation_p.R163C	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000														49			20		0	0	0.002780	0	0
HCN4	10021	broad.mit.edu	37	15	73615779	73615779	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:73615779C>T	uc002avp.3	-	7	3649	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	885					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.P884P(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCACAGGCCCCGGGGGGTG	0.667000														14			6		0	0	0.001168	0	0
ESPL1	9700	broad.mit.edu	37	12	53685836	53685836	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53685836C>T	uc001sck.2	+	26	5851	c.5760C>T	c.(5758-5760)tcC>tcT	p.S1920S	ESPL1_uc001scj.2_Silent_p.S1595S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1920					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTGCCCTCCTTCCGCTTCC	0.577000														99			20		0	0	0.002780	0	0
SMR3A	26952	broad.mit.edu	37	4	71232489	71232489	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71232489G>A	uc003hfg.1	+	2	264	c.183G>A	c.(181-183)ggG>ggA	p.G61G	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	61	Pro-rich.					extracellular region		p.G61E(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ATGGTCCAGGGAGATTTCCAC	0.547000														58			34		0	0	0.002445	0	0
GDF15	9518	broad.mit.edu	37	19	18499380	18499380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18499380G>A	uc002niv.2	+	1	594	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	188					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GCGGCCGCAAGCCGCCAGGGG	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			3		0	0	0.004672	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692180	31692180	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31692180C>T	uc002ynw.3	-	0	428	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	58						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACCGCAGGTCTCTTGGCAGT	0.567000														54			33		0	0	0.004878	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987235	7987236	+	Missense_Mutation	DNP	CC	TT	TT	rs148316753	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7987235_7987236CC>TT	uc003mxx.4	+	0	901_902	c.466_467CC>TT	c.(466-468)ccg>TTg	p.P156L	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CTGCAGTGAGCCGCTGATTGAA	0.515000														8			32		0	0	0.004672	0	0
ZNF283	284349	broad.mit.edu	37	19	44351843	44351843	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44351843C>A	uc002oxr.4	+	6	1358	c.1090C>A	c.(1090-1092)Cag>Aag	p.Q364K	ZNF283_uc002oxp.4_Missense_Mutation_p.Q225K	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGCTTACTCAGCATCAGAA	0.388000														78			20		1.15919e-05	1.82711e-05	0.001216	1	0
LPO	4025	broad.mit.edu	37	17	56329578	56329578	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56329578G>A	uc002ivt.3	+	7	1132	c.816G>A	c.(814-816)ggG>ggA	p.G272G	LPO_uc010wns.2_Silent_p.G213G|LPO_uc010dcp.3_Silent_p.G189G|LPO_uc010dcq.3_Intron|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	272					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						GGACTCAAGGGAAATGCATGC	0.602000														48			18		0	0	0.007413	0	0
COL11A1	1301	broad.mit.edu	37	1	103352475	103352475	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:103352475G>A	uc001dum.3	-	62	5100	c.4782C>T	c.(4780-4782)tcC>tcT	p.S1594S	COL11A1_uc001duk.3_Silent_p.S778S|COL11A1_uc001dul.3_Silent_p.S1582S|COL11A1_uc001dun.3_Silent_p.S1543S|COL11A1_uc009weh.3_Silent_p.S1466S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1582	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGAATTGAGGGAACCAAATA	0.418000														47			23		0	0	0.002780	0	0
FFAR1	2864	broad.mit.edu	37	19	35842894	35842894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35842894C>T	uc002nzc.2	+	0	450	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	147					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTGGAGGCTCCAGGAGGCTGG	0.672000														22			29		0	0	0.002096	0	0
VIT	5212	broad.mit.edu	37	2	37035815	37035815	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:37035815C>T	uc002rpl.3	+	14	1892	c.1590C>T	c.(1588-1590)ctC>ctT	p.L530L	VIT_uc002rpm.3_Silent_p.L515L|VIT_uc010ezv.3_Silent_p.L493L|VIT_uc010ezw.3_Silent_p.L494L	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	515	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCACCGTCCTCCAGTTTGTGA	0.597000														30			10		0	0	0.000673	0	0
RGS22	26166	broad.mit.edu	37	8	101020656	101020656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:101020656G>A	uc003yjb.1	-	14	2503	c.2308C>T	c.(2308-2310)Ctt>Ttt	p.L770F	RGS22_uc003yja.1_Missense_Mutation_p.L589F|RGS22_uc003yjc.1_Missense_Mutation_p.L758F|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.L159F	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	770	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGCTCAAGAAGGAGGAGAAGG	0.378000														55			24		0	0	0.005443	0	0
PSG9	5678	broad.mit.edu	37	19	43762595	43762595	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43762595G>A	uc002owd.4	-	4	1101	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	PSG9_uc002owe.4_Silent_p.L241L|PSG9_uc010xwm.2_Silent_p.L241L|PSG9_uc002owf.4_Silent_p.L148L|PSG9_uc002owg.2_Silent_p.L241L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	334					female pregnancy	extracellular region		p.L334L(2)|p.L334I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAATTCTGGGGAGGTCTGGAC	0.488000														153			52		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155199919	155199919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:155199919G>A	uc021xge.1	-	22	4197	c.3920C>T	c.(3919-3921)tCc>tTc	p.S1307F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1269F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1307					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTATTAGGGGATCCAGGCAG	0.493000														93			46		0	0	0.003214	0	0
DHX29	54505	broad.mit.edu	37	5	54566508	54566508	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54566508G>T	uc003jpx.3	-	18	3011	c.2891C>A	c.(2890-2892)tCt>tAt	p.S964Y	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	964	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTCCACCAAAGAACTCATCTG	0.428000														60			11		6.40141e-05	0.000100722	0.000978	1	0
EDNRA	1909	broad.mit.edu	37	4	148407109	148407109	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:148407109C>T	uc003iky.3	+	1	806	c.276C>T	c.(274-276)atC>atT	p.I92I	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.I92I|EDNRA_uc010ipe.1_Silent_p.I92I|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	92					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTATTTTCATCGTGGGAATGG	0.443000														48			42		0	0	0.003610	0	0
A2M	2	broad.mit.edu	37	12	9231867	9231867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:9231867C>T	uc001qvk.1	-	24	3205	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	A2M_uc009zgk.1_Missense_Mutation_p.R881Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1031					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGCCATATCGCTCCCCAAA	0.413000														20			33		0	0	0.004289	0	0
SLC38A1	81539	broad.mit.edu	37	12	46582833	46582833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46582833C>T	uc001rpb.3	-	16	2492	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	SLC38A1_uc001rpc.3_Missense_Mutation_p.G462R|SLC38A1_uc001rpd.3_Missense_Mutation_p.G462R|SLC38A1_uc001rpe.3_Missense_Mutation_p.G462R|SLC38A1_uc001rpa.3_Missense_Mutation_p.G462R	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	462					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AACAACACCCCCAGGCCCAAG	0.483000														48			19		0	0	0.001882	0	0
AKAP9	10142	broad.mit.edu	37	7	91730219	91730220	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:91730219_91730220CC>TT	uc003ulg.3	+	44	11171_11172	c.10946_10947CC>TT	c.(10945-10947)gcc>gTT	p.A3649V	AKAP9_uc003ulf.3_Missense_Mutation_p.A3641V|AKAP9_uc003uli.3_Missense_Mutation_p.A3272V|AKAP9_uc003ulj.3_Missense_Mutation_p.A1419V|AKAP9_uc003ull.3_Missense_Mutation_p.A545V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3653					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCATCATTGCCTCTGAAAAAG	0.406000			T	BRAF	papillary thyroid									114			35		0	0	0.004672	0	0
LAMA5	3911	broad.mit.edu	37	20	60903380	60903380	+	Silent	SNP	G	A	A	rs143580785	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60903380G>A	uc002ycq.3	-	34	4636	c.4569C>T	c.(4567-4569)gtC>gtT	p.V1523V	LAMA5_uc021wfw.1_Silent_p.V1523V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1523	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCACAGCCGACCAGGGGGT	0.662000														30			5		0	0	0.000602	0	0
SAMD12	401474	broad.mit.edu	37	8	119209968	119209968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:119209968G>A	uc010mda.1	-	4	596	c.467C>T	c.(466-468)tCa>tTa	p.S156L	SAMD12_uc010mdb.1_Non-coding_Transcript	NM_001101676	NP_001095146	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 1, mRNA.	156										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			ACCCTCAGATGATGCTGCAAG	0.428000														63			70		0	0	0.003610	0	0
CALCR	799	broad.mit.edu	37	7	93090138	93090138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:93090138C>T	uc003umv.2	-	9	1045	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.D215N|CALCR_uc003umw.2_Missense_Mutation_p.D215N	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	231					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTACCGGGTCCCTTCGCACG	0.383000														8			101		0	0	0.003610	0	0
HOXB3	3213	broad.mit.edu	37	17	46628188	46628188	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46628188G>A	uc002inn.3	-	1	1204	c.804C>T	c.(802-804)ccC>ccT	p.P268P	HOXB3_uc010wlm.2_Silent_p.P195P|HOXB3_uc010dbf.3_Silent_p.P268P|HOXB3_uc010dbg.3_Silent_p.P268P|HOXB3_uc002ino.3_Silent_p.P268P|HOXB3_uc010wlk.2_Silent_p.P136P|HOXB3_uc010wll.2_Silent_p.P195P	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	268					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P268A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGACTGCATGGGCTGCGGGG	0.647000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			49		0	0	0.003610	0	0
GK	2710	broad.mit.edu	37	X	30736685	30736685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:30736685C>T	uc022buj.1	+	13	1185	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	GK_uc004dch.4_Missense_Mutation_p.R336C|GK_uc010ngj.3_Missense_Mutation_p.R330C|GK_uc004dci.4_Missense_Mutation_p.R330C|GK_uc011mjz.2_Missense_Mutation_p.R131C|GK_uc011mka.2_Missense_Mutation_p.R173C|GK_uc010ngk.3_Missense_Mutation_p.R125C	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TGCTGTTATTCGCTGGCTAAG	0.333000														11			4		0	0	0.001984	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186172	5186172	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:5186172C>T	uc003jdl.3	+	4	909	c.771C>T	c.(769-771)ccC>ccT	p.P257P	ADAMTS16_uc003jdk.1_Silent_p.P257P|ADAMTS16_uc003jdj.1_Silent_p.P257P	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAGACATGCCCCAGCCTCCCA	0.468000														234			43		0	0	0.003610	0	0
EPS15L1	58513	broad.mit.edu	37	19	16547762	16547763	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16547762_16547763GG>AA	uc002ndx.3	-	5	363_364	c.357_358CC>TT	c.(355-360)gcccac>gcTTac	p.H120Y	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.H10Y|EPS15L1_uc002ndz.1_Missense_Mutation_p.H120Y|EPS15L1_uc010xpf.1_Missense_Mutation_p.H23Y|EPS15L1_uc002nea.1_Missense_Mutation_p.H120Y|EPS15L1_uc010eah.1_Missense_Mutation_p.H120Y|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.H120Y	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	120					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACAGCCCAGTGGGCCTCTGCAG	0.500000														31			33		0	0	0.004672	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99363184	99363184	+	Silent	SNP	C	T	T	rs56262026	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:99363184C>T	uc003htw.4	+	14	1933	c.1743C>T	c.(1741-1743)gtC>gtT	p.V581V	RAP1GDS1_uc003htx.4_Silent_p.V580V|RAP1GDS1_uc003htv.4_Silent_p.V580V|RAP1GDS1_uc003htz.4_Silent_p.V531V|RAP1GDS1_uc003hty.4_Silent_p.V532V|RAP1GDS1_uc003hua.4_Silent_p.V489V	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	580							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTAGATGTCGTATCCAAAC	0.423000			T	NUP98	T-ALL									8			6		0	0	0.001984	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051948	103051948	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:103051948A>C	uc003vbz.3	-	5	751	c.489T>G	c.(487-489)aaT>aaG	p.N163K	SLC26A5_uc003vbt.2_Missense_Mutation_p.N163K|SLC26A5_uc003vbu.2_Missense_Mutation_p.N163K|SLC26A5_uc003vbv.2_Missense_Mutation_p.N163K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.N163K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	163					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATTGGTTGCATTTACTCCTC	0.448000														8			80		0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82321672	82321672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:82321672C>T	uc004ald.3	+	10	1622	c.773C>T	c.(772-774)tCc>tTc	p.S258F	TLE4_uc004alc.3_Missense_Mutation_p.S265F|TLE4_uc010mpr.3_Missense_Mutation_p.S144F|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.S233F|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Missense_Mutation_p.S204F	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GATCCATCTTCCCCTCGAGGG	0.498000														53			27		0	0	0.002096	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														16			46		0	0	0.002852	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474497	140474497	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140474497G>A	uc003lil.3	+	0	261	c.123G>A	c.(121-123)acG>acA	p.T41T	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGGAAACGGAGAGTGGCT	0.507000														57			11		0	0	0.001368	0	0
SETBP1	26040	broad.mit.edu	37	18	42281537	42281537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:42281537G>A	uc010dni.3	+	1	522	c.226G>A	c.(226-228)Gac>Aac	p.D76N	SETBP1_uc002lay.3_Missense_Mutation_p.D76N	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	76						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCCAACGCGGACAGTGAGAA	0.547000									Schinzel-Giedion syndrome					34			39		0	0	0.001951	0	0
FBN1	2200	broad.mit.edu	37	15	48812962	48812962	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48812962G>T	uc001zwx.2	-	9	1436	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	347	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGCAGCTGGTTAGAGCAGC	0.532000														34			13		1.15088e-07	1.81812e-07	0.004007	1	0
CYP2D7P1	1564	broad.mit.edu	37	22	42536660	42536661	+	Missense_Mutation	DNP	GG	AA	AA	rs143457816	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:42536660_42536661GG>AA	uc003bci.3	-	7	1331_1332	c.950_951CC>TT	c.(949-951)gcc>gTT	p.A317V	CYP2D7P1_uc003bcg.3_Missense_Mutation_p.A61V|CYP2D7P1_uc010gyv.3_Missense_Mutation_p.A101V|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						TCTTCCAGACGGCCTCATCCTT	0.604000														9			6		0	0	0.004672	0	0
KIF27	55582	broad.mit.edu	37	9	86504034	86504034	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:86504034A>C	uc004ana.3	-	6	2088	c.1944T>G	c.(1942-1944)gaT>gaG	p.D648E	KIF27_uc010mpw.3_Missense_Mutation_p.D648E|KIF27_uc010mpx.3_Missense_Mutation_p.D648E	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	648					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGATTCTTCATCATCACTGT	0.343000														43			27		0	0	0.007291	0	0
SLC43A3	29015	broad.mit.edu	37	11	57155261	57155261	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57155261G>A	uc001nkc.3	-	4	650	c.576C>T	c.(574-576)tcC>tcT	p.S192S	SLC43A3_uc001nkd.3_Silent_p.S181S|SLC43A3_uc001nke.3_Silent_p.S472S	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GACCACCGCGGGACCAGGGCT	0.617000														10			3		0	0	0.000248	0	0
DEFB119	245932	broad.mit.edu	37	20	29966157	29966157	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29966157G>A	uc002wvs.3	-	1	219	c.99C>T	c.(97-99)gcC>gcT	p.A33A	DEFB119_uc002wvt.3_Intron	NM_173460	NP_775689	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 2, mRNA.	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ccacccacctggcagtatcca	0.512000														122			62		0	0	0.003610	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632453	205632453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:205632453G>A	uc001hda.1	-	2	805	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	156					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGGCGACAGTGGTCCGGGTCC	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									44			5		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9064631	9064631	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9064631G>A	uc002mkp.3	-	2	23019	c.22815C>T	c.(22813-22815)ccC>ccT	p.P7605P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7607	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7605P(3)|p.P3238P(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						CAGAAATCCTGGGGATGGTTC	0.483000														39			16		0	0	0.004007	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429862	89429862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89429862C>T	uc001pda.3	+	12	1634	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	370					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTTATTGATCCATTAGGGTT	0.294000														41			20		0	0	0.002299	0	0
MPP4	58538	broad.mit.edu	37	2	202545639	202545639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202545639G>A	uc002uyk.4	-	9	1059	c.851C>T	c.(850-852)gCc>gTc	p.A284V	MPP4_uc010ftj.3_Missense_Mutation_p.A284V|MPP4_uc010zhq.2_Missense_Mutation_p.A284V|MPP4_uc010zht.2_Missense_Mutation_p.A257V|MPP4_uc010zhr.2_Missense_Mutation_p.A284V|MPP4_uc010zhs.2_Missense_Mutation_p.A240V|MPP4_uc002uyj.4_Missense_Mutation_p.A240V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.A271V|MPP4_uc002uym.1_Missense_Mutation_p.A253V|MPP4_uc002uyn.3_Missense_Mutation_p.A240V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	284	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CCACCAGAGGGCATCATTCTG	0.572000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			5		0	0	0.001168	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52912063	52912063	+	Missense_Mutation	SNP	A	G	G	rs1044615		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:52912063A>G	uc001cty.2	-	21	3818	c.3565T>C	c.(3565-3567)Tgg>Cgg	p.W1189R	ZCCHC11_uc001ctx.2_Missense_Mutation_p.W1189R|ZCCHC11_uc009vze.1_Missense_Mutation_p.W1189R|ZCCHC11_uc009vzf.1_Missense_Mutation_p.W910R	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1189	PAP-associated 2.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCCAGCCAAAGCTCCCCT	0.358000														31			12		0	0	0.002450	0	0
CANT1	124583	broad.mit.edu	37	17	76993104	76993104	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76993104G>A	uc002jwj.3	-	1	1096	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	CANT1_uc002jwn.3_Silent_p.L201L|CANT1_uc002jwk.3_Silent_p.L201L|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	201					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGTCGGACAGAATCACCCAG	0.587000			T	ETV4	prostate									207			63		0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23884991	23884991	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23884991C>T	uc001wjx.3	-	34	5110	c.5004G>A	c.(5002-5004)aaG>aaA	p.K1668K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1668					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)		CGATGTTCTCCTTCAGGTCGT	0.627000														26			24		0	0	0.003330	0	0
TTC24	164118	broad.mit.edu	37	1	156554673	156554673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156554673C>T	uc021pbf.1	+	6	1292	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	419							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCAGACTTCGGCTCCGGGA	0.582000														1			15		0	0	0.004007	0	0
ASMTL	8623	broad.mit.edu	37	X	1551204	1551204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:1551204G>A	uc004cpx.2	-	5	604	c.467C>T	c.(466-468)tCc>tTc	p.S156F	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.S140F|ASMTL_uc011mhe.2_Missense_Mutation_p.S80F|ASMTL_uc011mhf.2_Missense_Mutation_p.S98F	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	156	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCTCCTCGGACAGCTCCGA	0.637000														3			14		0	0	0.004007	0	0
C14orf133	63894	broad.mit.edu	37	14	77904188	77904188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:77904188G>A	uc001xtt.2	-	12	1216	c.799C>T	c.(799-801)Cct>Tct	p.P267S	C14orf133_uc001xtu.2_Missense_Mutation_p.P267S|C14orf133_uc001xtv.2_Missense_Mutation_p.P267S|C14orf133_uc021rwu.1_Missense_Mutation_p.P267S|C14orf133_uc010tvj.2_Missense_Mutation_p.P218S	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	267					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)		CGTTTGTCAGGGTCCTGAATG	0.353000														12			22		0	0	0.003954	0	0
POTEG	404785	broad.mit.edu	37	14	19553545	19553545	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:19553545G>A	uc001vuz.1	+	0	181	c.129G>A	c.(127-129)gtG>gtA	p.V43V	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.	43								p.N42K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGCAACGTGGGCACTTCTG	0.602000														434			20		0	0	0.003755	0	0
CDK8	1024	broad.mit.edu	37	13	26975749	26975749	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:26975749C>T	uc001uqr.1	+	11	1280	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	CDK8_uc001uqs.1_Silent_p.T418T|CDK8_uc001uqt.1_Silent_p.T246T	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTATCATGACCTCAGACTATC	0.428000														39			17		0	0	0.001523	0	0
MYO1A	4640	broad.mit.edu	37	12	57423625	57423625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57423625C>T	uc001smw.4	-	24	2863	c.2623G>A	c.(2623-2625)Ggg>Agg	p.G875R	MYO1A_uc010sqz.2_Missense_Mutation_p.G713R|MYO1A_uc009zpd.3_Missense_Mutation_p.G875R	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	875					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTGCAGCCCAATGTAGTCA	0.592000														57			157		0	0	0.003610	0	0
IFIT5	24138	broad.mit.edu	37	10	91177344	91177344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91177344C>T	uc010qnh.2	+	1	619	c.388C>T	c.(388-390)Cct>Tct	p.P130S	LIPA_uc001kgb.4_5'Flank|LIPA_uc001kgc.4_5'Flank|IFIT5_uc010qng.1_Missense_Mutation_p.P130S	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	130							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ATTGTCCAGTCCTTCTAACTA	0.428000														43			17		0	0	0.004990	0	0
LMX1A	4009	broad.mit.edu	37	1	165218703	165218703	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:165218703C>T	uc001gcz.2	-	3	632	c.438G>A	c.(436-438)ggG>ggA	p.G146G	LMX1A_uc021pdz.1_Silent_p.G146G	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	146	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G146V(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTCATAGTCCCCTTTGCAGA	0.612000														32			48		0	0	0.003610	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21926060	21926060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21926060G>A	uc001bev.3	-	18	1976	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F	RAP1GAP_uc001bew.3_Missense_Mutation_p.S632F|RAP1GAP_uc001bey.3_Missense_Mutation_p.S594F|RAP1GAP_uc001bex.3_Missense_Mutation_p.S568F	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	568					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACTGGACGAGGAGCGGGAGAA	0.682000														18			13		0	0	0.001855	0	0
MSH5	4439	broad.mit.edu	37	6	31727911	31727911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31727911C>T	uc003nwu.2	+	18	1858	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	MSH5_uc003nwx.2_Missense_Mutation_p.S594F|MSH5_uc003nwv.2_Missense_Mutation_p.S577F|MSH5_uc003nww.2_Missense_Mutation_p.S577F|MSH5_uc011dof.1_Missense_Mutation_p.S276F|MSH5_uc003nwy.1_Missense_Mutation_p.S251F|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	577					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						GTGCCCAACTCCACAGAATGT	0.542000								Direct reversal of damage;Mismatch excision repair (MMR)						400			265		0	0	0.003610	0	0
BRD4	23476	broad.mit.edu	37	19	15367916	15367916	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15367916G>A	uc002nar.3	-	7	1632	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	BRD4_uc002nas.3_Silent_p.S470S|BRD4_uc002nat.3_Silent_p.S470S|BRD4_uc002nau.4_Silent_p.S470S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	470					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCACTGCCGGGGAGGACACGG	0.622000			T	C15orf55	lethal midline carcinoma of young people									21			12		0	0	0.001368	0	0
GALNT6	11226	broad.mit.edu	37	12	51753045	51753045	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:51753045G>A	uc001ryk.2	-	6	1464	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.S413S|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	413					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGTGTGGGGGCTCTTGGTCC	0.557000														31			44		0	0	0.003610	0	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9204289C>T	uc010xkj.2	+	0	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000														44			43		0	0	0.007835	0	0
KIF23	9493	broad.mit.edu	37	15	69727868	69727868	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:69727868C>T	uc002asb.3	+	10	1297	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	KIF23_uc002asc.3_Silent_p.V373V|KIF23_uc010bii.3_Silent_p.V263V|KIF23_uc010ukc.2_Silent_p.V190V|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	373					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GTATGGATGTCCTAAGAGAGA	0.348000														30			23		0	0	0.001512	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679775	160679775	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160679775C>T	uc003qtf.3	-	0	189	c.15G>A	c.(13-15)gtG>gtA	p.V5V	SLC22A2_uc003qth.2_Silent_p.V5V	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	5					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.V5V(2)		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)		GGACATCGTCCACGGTGGTGG	0.617000														1			18		0	0	0.001216	0	0
TRAF4	9618	broad.mit.edu	37	17	27071154	27071154	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27071154C>T	uc002hcs.3	+	0	132	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TRAF4_uc002hcq.1_Silent_p.F8F	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	8					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACTACAAGTTCCTGGAGAAGC	0.716000														16			10		0	0	0.000673	0	0
ZAN	7455	broad.mit.edu	37	7	100389760	100389760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100389760C>T	uc003uwj.3	+	41	7864	c.7699C>T	c.(7699-7701)Ccc>Tcc	p.P2567S	ZAN_uc003uwk.3_Missense_Mutation_p.P2567S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.S560S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2568					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCCCCAGAGCCCTTCCAAGA	0.662000														20			4		0	0	0.001168	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958516	50958516	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50958516C>T	uc002psf.2	+	18	2217	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	722	Fibronectin type-III 1.				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)		TAGGGGTCTCCCAGCCCAGCA	0.488000														101			30		0	0	0.005524	0	0
OR2T6	254879	broad.mit.edu	37	1	248551537	248551537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248551537C>T	uc001iei.1	+	0	628	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P210H(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATCCCCTTCTCGGT	0.532000														53			19		0	0	0.001523	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335829	20335829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:20335829G>A	uc001iqg.1	+	2	993	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATATCTCGAATATATGGT	0.333000														21			34		0	0	0.006230	0	0
DLG2	1740	broad.mit.edu	37	11	83344270	83344270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:83344270G>A	uc001paj.2	-	13	1912	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	DLG2_uc001pai.2_Missense_Mutation_p.R434C|DLG2_uc010rsy.1_Missense_Mutation_p.R504C|DLG2_uc021qof.1_Missense_Mutation_p.R576C|DLG2_uc010rsz.1_Missense_Mutation_p.R537C|DLG2_uc010rta.1_Missense_Mutation_p.R537C|DLG2_uc001pak.2_Missense_Mutation_p.R642C|DLG2_uc010rtb.1_Missense_Mutation_p.R504C|DLG2_uc001pal.1_Missense_Mutation_p.R537C|DLG2_uc010rsx.1_Missense_Mutation_p.R18C|DLG2_uc010rsw.1_Missense_Mutation_p.R19C	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	537	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R537C(2)|p.R642C(1)|p.R576C(1)|p.R434C(1)		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)				TAGAGGGAGCGTTTCTGATTG	0.478000														13			19		0	0	0.003954	0	0
MLH3	27030	broad.mit.edu	37	14	75514786	75514786	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:75514786G>A	uc001xrd.1	-	1	1789	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L	MLH3_uc001xre.1_Silent_p.L525L|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	525					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATATTTCTAGATCCTGCCCA	0.378000								Mismatch excision repair (MMR)						6			46		0	0	0.003610	0	0
DHX29	54505	broad.mit.edu	37	5	54569141	54569141	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54569141G>T	uc003jpx.3	-	16	2875	c.2755C>A	c.(2755-2757)Ccc>Acc	p.P919T	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	919	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCTGGAGGGGGAAGTGTGAAT	0.363000														15			36		6.04917e-29	9.63632e-29	0.006999	1	0
PSPC1	55269	broad.mit.edu	37	13	20279827	20279827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:20279827G>A	uc021rgx.1	-	8	1498	c.1361C>T	c.(1360-1362)cCa>cTa	p.P454L		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	454	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGGCATCATTGGAGTTCCCAT	0.413000														27			10		0	0	0.000978	0	0
TEX14	56155	broad.mit.edu	37	17	56692659	56692659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56692659G>A	uc010dcz.2	-	7	951	c.833C>T	c.(832-834)cCc>cTc	p.P278L	TEX14_uc002iwr.2_Missense_Mutation_p.P272L|TEX14_uc002iws.2_Missense_Mutation_p.P272L|TEX14_uc010dda.2_Missense_Mutation_p.P52L	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	278	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGTGGGTGGGGAGATTCAG	0.557000														74			19		0	0	0.001523	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311045	154311045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154311045G>A	uc003lvx.3	-	4	837	c.754C>T	c.(754-756)Cga>Tga	p.R252*	GEMIN5_uc011ddk.1_Nonsense_Mutation_p.R251*	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	252					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCAGATTCGAATGGTTTGA	0.418000														55			6		0	0	0.003080	0	0
MYO5B	4645	broad.mit.edu	37	18	47566544	47566544	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:47566544G>A	uc002leb.2	-	2	567	c.279C>T	c.(277-279)ttC>ttT	p.F93F	MYO5B_uc021ukb.1_Silent_p.F92F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	93	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGACTCCAGGAAACGGACCT	0.468000														64			77		0	0	0.003610	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154728	9154728	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:9154728G>A	uc003jek.2	-	11	2065	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	451	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCTCTCAGGGAAGAGCTCAA	0.557000														57			43		0	0	0.003610	0	0
OR6C74	254783	broad.mit.edu	37	12	55641396	55641396	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55641396G>T	uc010spg.2	+	0	325	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GGGGGCAACTGAATTTTTTCT	0.453000														461			41		5.20006e-24	8.27738e-24	0.002852	1	0
DDX20	11218	broad.mit.edu	37	1	112303708	112303708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:112303708C>T	uc001ebs.3	+	5	1280	c.923C>T	c.(922-924)cCa>cTa	p.P308L	DDX20_uc010owf.2_Missense_Mutation_p.P70L|DDX20_uc001ebt.3_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	308	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGAATTCCATTTAATCAA	0.368000														30			12		0	0	0.001368	0	0
XIST	7503	broad.mit.edu	37	X	73050944	73050944	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73050944G>A	uc004ebm.1	-	3		c.11739C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTTCCTATCTGGGACCAGGAA	0.453000														1			19		0	0	0.001523	0	0
OR4A47	403253	broad.mit.edu	37	11	48510680	48510680	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:48510680C>T	uc010rhx.2	+	0	336	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGGTCTTTCTCCTGTTGGTGA	0.458000														11			44		0	0	0.003214	0	0
QSOX1	5768	broad.mit.edu	37	1	180163365	180163365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180163365C>T	uc001gnz.3	+	10	1381	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	QSOX1_uc001gny.3_Missense_Mutation_p.L436F	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	436	ERV/ALR sulfhydryl oxidase.				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						CAAGGAGGTCCTCCCAGCCAT	0.672000														26			6		0	0	0.001168	0	0
S100A12	6283	broad.mit.edu	37	1	153346438	153346438	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153346438G>A	uc001fbr.1	-	2	212	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	48	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTTTATCTTTGATATTCTAGG	0.443000														31			26		0	0	0.006320	0	0
TACR1	6869	broad.mit.edu	37	2	75425727	75425727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:75425727G>A	uc002sng.2	-	0	919	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TACR1_uc002snh.3_Missense_Mutation_p.P112S	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	112					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCGGCGATGGGAAAGAAGTTG	0.498000														61			20		0	0	0.001882	0	0
SLC22A9	114571	broad.mit.edu	37	11	63175680	63175680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63175680C>T	uc001nww.3	+	7	1653	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	462					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GAAGTAATTCCCACCATAATC	0.458000														43			7		0	0	0.004482	0	0
COL4A6	1288	broad.mit.edu	37	X	107415711	107415711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107415711G>A	uc004enw.4	-	31	3296	c.3193C>T	c.(3193-3195)Cca>Tca	p.P1065S	COL4A6_uc004env.4_Missense_Mutation_p.P1064S|COL4A6_uc011msn.2_Missense_Mutation_p.P1064S|COL4A6_uc010npk.3_Missense_Mutation_p.P1064S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1065	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCAGGCCTGGGAGACCAGAT	0.458000									Alport syndrome with Diffuse Leiomyomatosis					66			48		0	0	0.003610	0	0
FXYD7	53822	broad.mit.edu	37	19	35639645	35639645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35639645G>A	uc010xsp.1	+	1	164	c.22G>A	c.(22-24)Gat>Aat	p.D8N	FXYD7_uc002nye.1_Intron			P58549	FXYD7_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA.	0						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGATTTGGGGATAGGGCTGG	0.512000														81			20		0	0	0.004656	0	0
CACNA1S	779	broad.mit.edu	37	1	201016755	201016755	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201016755C>T	uc001gvv.3	-	37	4669	c.4442_splice	c.e37-1	p.G1481_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1481					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAAAGTTACCTGGAGCAGGA	0.498000														64			17		0	0	0.004990	0	0
LAMA5	3911	broad.mit.edu	37	20	60886054	60886054	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60886054G>A	uc002ycq.3	-	73	10252	c.10185C>T	c.(10183-10185)ttC>ttT	p.F3395F	LAMA5_uc021wfw.1_Silent_p.F3395F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3395	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L3394L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTGCTCAGGAAGAGCGCCA	0.697000														45			6		0	0	0.001984	0	0
GLUD1	2746	broad.mit.edu	37	10	88811610	88811610	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88811610G>A	uc001keh.3	-	12	1825	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	GLUD1_uc001keg.3_Silent_p.A358A|GLUD1_uc010qmp.2_Silent_p.A392A	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	525					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TATACTTCATGGCTGTGCGCA	0.458000														44			47		0	0	0.003610	0	0
TRIM71	131405	broad.mit.edu	37	3	32932742	32932742	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:32932742C>T	uc003cff.3	+	3	2109	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	682					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCACGTTCGAGGGCCAGT	0.577000														23			28		0	0	0.006320	0	0
KRT37	8688	broad.mit.edu	37	17	39578669	39578669	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39578669C>T	uc002hwp.1	-	3	797	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	250	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.L249L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCAGCTGACTCCTCAGAATCT	0.567000														132			45		0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126173412	126173412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:126173412C>T	uc003vlr.2	-	7	2335	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R675Q|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	675					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCAAATATTCGGTGGATACG	0.502000										HNSCC(24;0.065)				128			18		0	0	0.001216	0	0
ACTR3B	57180	broad.mit.edu	37	7	152550596	152550596	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:152550596C>T	uc003wle.1	+	10	1212	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ACTR3B_uc003wlf.1_Intron|ACTR3B_uc003wlg.1_Silent_p.V277V|ACTR3B_uc011kvp.1_Silent_p.V277V	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	365					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGTGGAGGTCCAGGTGGTCA	0.587000														36			12		0	0	0.002450	0	0
ZNF235	9310	broad.mit.edu	37	19	44791712	44791712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44791712G>A	uc002oza.4	-	4	1979	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P622S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATTTATATGGTTTCTCTCCG	0.458000														83			43		0	0	0.002522	0	0
ABCA9	10350	broad.mit.edu	37	17	66982341	66982341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66982341C>T	uc002jhu.3	-	31	4315	c.4172G>A	c.(4171-4173)gGt>gAt	p.G1391D	ABCA9_uc010dez.3_Missense_Mutation_p.G1353D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1391	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTCCTGAGACCTTTCACGGC	0.587000														81			18		0	0	0.007413	0	0
RBP3	5949	broad.mit.edu	37	10	48389873	48389873	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48389873C>T	uc001jez.3	-	0	1119	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	335	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTTCAGGACCTCCTGGAGGC	0.647000														17			8		0	0	0.003080	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727911	20727911	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:20727911C>T	uc002npa.3	-	3	1278	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	366					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTAGGGTTTCTCTCCACTAT	0.403000														32			22		0	0	0.002299	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909261	32909261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:32909261G>A	uc003tdb.2	-	3	2227	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	523										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCTAACACAGGGGTCAGAGTA	0.423000														60			98		0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155256132	155256132	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:155256132G>A	uc003inw.2	-	7	1104	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	DCHS2_uc003inx.2_Silent_p.F867F	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	368	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F368L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAGTTGTCTGGAAAATGTGTA	0.443000														49			16		0	0	0.004007	0	0
RHOU	58480	broad.mit.edu	37	1	228879481	228879481	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228879481C>T	uc001htf.3	+	2	1437	c.771C>T	c.(769-771)ttC>ttT	p.F257F	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	257					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACTGCTGTTTCGTATGATGCT	0.408000														56			14		0	0	0.002450	0	0
TAB1	10454	broad.mit.edu	37	22	39817844	39817844	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:39817844C>T	uc003axt.3	+	7	838	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TAB1_uc003axr.3_Silent_p.S339S|TAB1_uc011aok.2_Silent_p.S97S|TAB1_uc003axu.1_Silent_p.S263S	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	263	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTGCCAAGTCCAAACCAATCA	0.577000														76			15		0	0	0.003163	0	0
CASR	846	broad.mit.edu	37	3	121980966	121980966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121980966G>A	uc003eew.4	+	3	1522	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CASR_uc003eev.4_Missense_Mutation_p.E362K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	362					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACCTCCAAGAAGGTGCAAA	0.507000														44			11		0	0	0.000978	0	0
FAM83A	84985	broad.mit.edu	37	8	124204148	124204148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124204148G>A	uc003ypv.3	+	2	2600	c.586G>A	c.(586-588)Gga>Aga	p.G196R	FAM83A_uc003ypw.3_Missense_Mutation_p.G196R|FAM83A_uc003ypx.3_Missense_Mutation_p.G196R|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Missense_Mutation_p.G196R	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	196										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCTGGACCAGGGAGGTGTGAA	0.517000														83			78		0	0	0.003610	0	0
ADAM12	8038	broad.mit.edu	37	10	127782640	127782640	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:127782640G>A	uc001ljk.2	-	10	1481	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ADAM12_uc010qul.1_Silent_p.F307F|ADAM12_uc001ljm.3_Silent_p.F356F|ADAM12_uc001ljn.3_Silent_p.F353F|ADAM12_uc001ljl.4_Silent_p.F353F	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	356	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.F356F(4)|p.N355S(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATTCATCCCGAAATTGTGGC	0.502000														28			34		0	0	0.002445	0	0
HECW2	57520	broad.mit.edu	37	2	197183391	197183391	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197183391C>T	uc002utm.1	-	8	2406	c.2223G>A	c.(2221-2223)ggG>ggA	p.G741G	HECW2_uc002utl.1_Silent_p.G385G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	741	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCCAGGCTCCCCCTCCGCT	0.672000														8			7		0	0	0.003080	0	0
STARD3	10948	broad.mit.edu	37	17	37817088	37817088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37817088C>T	uc002hsd.3	+	11	1183	c.980C>T	c.(979-981)aCc>aTc	p.T327I	STARD3_uc010wei.2_Missense_Mutation_p.T327I|STARD3_uc002hse.3_Missense_Mutation_p.T309I|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Missense_Mutation_p.T193I	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	327	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGACAACACCCTCATCTCC	0.632000														131			41		0	0	0.003214	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27820188	27820188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27820188C>T	uc001ric.2	+	12	1509	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	PPFIBP1_uc010sjr.1_Missense_Mutation_p.P209S|PPFIBP1_uc001rib.2_Missense_Mutation_p.P361S|PPFIBP1_uc001ria.3_Missense_Mutation_p.P347S|PPFIBP1_uc001rid.2_Missense_Mutation_p.P225S	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	378					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGAGAAAAGTCCATCACCCAC	0.428000														28			39		0	0	0.006230	0	0
GABRA2	2555	broad.mit.edu	37	4	46252554	46252555	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:46252554_46252555GG>AA	uc011bzc.1	-	9	1553_1554	c.1141_1142CC>TT	c.(1141-1143)ccg>TTg	p.P381L	GABRA2_uc003gxc.3_Missense_Mutation_p.P376L|GABRA2_uc010igc.2_Missense_Mutation_p.P376L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAAGATTCGGGGCATAATTG	0.421000														64			28		0	0	0.004672	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761585	92761585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:92761585C>T	uc003umh.1	-	4	4916	c.3700G>A	c.(3700-3702)Gga>Aga	p.G1234R	SAMD9L_uc003umj.1_Missense_Mutation_p.G1234R|SAMD9L_uc003umi.1_Missense_Mutation_p.G1234R|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1234R|SAMD9L_uc003umk.1_Missense_Mutation_p.G1234R|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1234R|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1234R|SAMD9L_uc022ahh.1_Missense_Mutation_p.G1234R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1234										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCCACTTTCCTGATAAAAAT	0.358000														8			115		0	0	0.003610	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545857	28545857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28545857C>T	uc002hey.4	-	3	980	c.436G>A	c.(436-438)Gga>Aga	p.G146R		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	146					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAAATGCATCCATTTCGGTGG	0.522000														52			75		0	0	0.003610	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035526	184035526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184035526C>T	uc003fnp.3	+	5	617	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	EIF4G1_uc003fno.2_Missense_Mutation_p.P57S|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.P123S|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.P123S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P29S|EIF4G1_uc003fnr.3_5'UTR|EIF4G1_uc003fns.3_Missense_Mutation_p.P76S|EIF4G1_uc010hxz.2_Missense_Mutation_p.P29S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P116S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P123S|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	116					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATACGTTGTCCCGACACAGCA	0.557000														37			5		0	0	0.000602	0	0
NETO1	81832	broad.mit.edu	37	18	70526247	70526248	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70526247_70526248CC>TT	uc002lkw.3	-	3	566_567	c.282_283GG>AA	c.(280-285)tgggag>tgAAag	p.94_95WE>*K	NETO1_uc002lky.2_Nonsense_Mutation_p.94_95WE>*K|NETO1_uc002lkz.3_Nonsense_Mutation_p.93_94WE>*K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	94	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)		AATTTGCACTCCCAAGACGGTT	0.386000														44			15		0	0	0.004672	0	0
EML5	161436	broad.mit.edu	37	14	89172638	89172638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:89172638C>T	uc021ryf.1	-	10	2039	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	EML5_uc021ryg.1_Missense_Mutation_p.R597K|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	597						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTCAGTTTTCTTTCAGGAAT	0.393000														10			30		0	0	0.002836	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481302	140481302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140481302C>T	uc003lio.3	+	0	1069	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	357	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCTATTCCTGAGAACTC	0.493000														52			14		0	0	0.002450	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109675807	109675807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:109675807C>T	uc003hzc.3	-	4	651	c.470G>A	c.(469-471)gGa>gAa	p.G157E	AGXT2L1_uc010imc.3_Missense_Mutation_p.G151E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G117E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G84E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G99E	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	157					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		GACATCTTTTCCTTTCTGAAA	0.323000														11			19		0	0	0.001882	0	0
FBXL15	79176	broad.mit.edu	37	10	104181773	104181773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104181773C>T	uc001kvl.1	+	3	806	c.698C>T	c.(697-699)tCg>tTg	p.S233L	PSD_uc001kvg.1_5'Flank|PSD_uc001kvh.1_5'Flank|PSD_uc009xxd.1_5'Flank|PSD_uc001kvi.1_5'Flank|FBXL15_uc001kvj.1_Missense_Mutation_p.S146L|FBXL15_uc001kvk.2_Missense_Mutation_p.S146L	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 15 (FBXL15), mRNA.	146	Interaction with SMURF1.				G2/M transition of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|bone mineralization|dorsal/ventral pattern formation|positive regulation of BMP signaling pathway|protein ubiquitination	SCF ubiquitin ligase complex|cytoplasm	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CAGCGCCTGTCGCTCGCGCAC	0.731000														13			4		0	0	0.000248	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852459	31852459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31852459C>T	uc011acx.2	-	0	178	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCGTAGCCTCCAAAGCCAGAG	0.527000														115			70		0	0	0.003610	0	0
ACAP2	23527	broad.mit.edu	37	3	195063202	195063202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:195063202G>A	uc003fun.4	-	5	767	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	ACAP2_uc003fuo.3_Nonsense_Mutation_p.Q176*	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	176	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTATATACCTGAAGCACATAA	0.368000														41			12		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179595812	179595812	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179595812G>A	uc021vsy.1	-	56	14073	c.13848C>T	c.(13846-13848)ggC>ggT	p.G4616G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G1277G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5543	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4616G(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)			TCAGTTCTTGGCCATCTTTAA	0.393000														32			26		0	0	0.003330	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057191	40057191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40057191C>T	uc003ayc.3	+	15	2777	c.2777C>T	c.(2776-2778)cCt>cTt	p.P926L	CACNA1I_uc003ayd.3_Missense_Mutation_p.P891L|CACNA1I_uc003aye.3_Missense_Mutation_p.P841L|CACNA1I_uc003ayf.3_Missense_Mutation_p.P806L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	926					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCTAGGTCCTGCTGGGGCT	0.652000														13			27		0	0	0.006320	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867587	150867587	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150867587C>T	uc003luc.3	+	10	1420	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	401					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TGGTCATCTCCCTGGTGGGCT	0.617000														16			37		0	0	0.002222	0	0
MORC3	23515	broad.mit.edu	37	21	37744705	37744705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:37744705C>T	uc002yvi.3	+	15	2618	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	848					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCACAAATCCGTTCACAGTG	0.323000														67			16		0	0	0.006122	0	0
TNS4	84951	broad.mit.edu	37	17	38652456	38652456	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38652456G>A	uc010cxb.3	-	1	386	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	74					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTGGCTTTGGCCTCCACCT	0.642000														39			14		0	0	0.003163	0	0
SYMPK	8189	broad.mit.edu	37	19	46319749	46319749	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46319749G>A	uc002pdn.3	-	24	3590	c.3345C>T	c.(3343-3345)ccC>ccT	p.P1115P	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1115					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.G1114W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTCCTCCAAGGGCCCCGCAG	0.657000														10			9		0	0	0.000978	0	0
VWF	7450	broad.mit.edu	37	12	6103062	6103062	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6103062C>T	uc001qnn.1	-	36	6814	c.6564G>A	c.(6562-6564)ggG>ggA	p.G2188G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2188					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAACGCAGACCCCGTTGGTCC	0.552000														41			4		0	0	0.000602	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:186544548C>T	uc003iyg.3	-	12	2397	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E775K|SORBS2_uc003iyl.3_Missense_Mutation_p.E675K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E579K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	675						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000														89			29		0	0	0.002096	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468095	66468095	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66468095G>A	uc001ojd.3	-	15	3547	c.3475C>T	c.(3475-3477)Cga>Tga	p.R1159*		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1159					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCCACATTCGGCCCAGCTCC	0.692000														21			33		0	0	0.003755	0	0
RP1	6101	broad.mit.edu	37	8	55540222	55540222	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55540222G>A	uc003xsd.1	+	3	3928	c.3780G>A	c.(3778-3780)gaG>gaA	p.E1260E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1260					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)			CTCCATGTGAGATGTGCACTG	0.443000														43			57		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113293562	113293562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113293562G>A	uc003ynu.3	-	58	9508	c.9349C>T	c.(9349-9351)Cca>Tca	p.P3117S	CSMD3_uc003yns.3_Missense_Mutation_p.P2319S|CSMD3_uc003ynt.3_Missense_Mutation_p.P3077S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2948S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3117	Sushi 23.					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						GTGGTTCCTGGGTTACCACAC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				22			21		0	0	0.002780	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833802	160833802	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160833802G>A	uc002ube.2	-	14	2606	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	PLA2R1_uc010zcp.2_Silent_p.I798I|PLA2R1_uc002ubf.3_Silent_p.I798I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	798					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCTCTTGGGATTTTGCATA	0.348000														26			6		0	0	0.001984	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177183	67177183	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67177183G>A	uc001ola.3	+	9	1328	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	433	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCCCCCAGGCCCCAACGAG	0.682000														31			8		0	0	0.000673	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150535922	150535922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150535922C>T	uc003qnt.3	+	1	490	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	117					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGATGATCTTCTTGATGCAGA	0.413000														38			23		0	0	0.006320	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058541	152058541	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152058541G>A	uc001ezo.1	-	2	1682	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	539							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTCTGTGTGAATGGTGACT	0.527000														90			25		0	0	0.004656	0	0
WDR72	256764	broad.mit.edu	37	15	54008826	54008826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54008826G>A	uc002acj.2	-	3	359	c.317C>T	c.(316-318)cCt>cTt	p.P106L	WDR72_uc010bfi.1_Missense_Mutation_p.P106L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	106										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTGCCTGTAAGGAAGTGTAGC	0.418000														52			29		0	0	0.002836	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345250	2345250	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2345250G>A	uc002lvs.3	+	14	1354	c.1274_splice	c.e14-1	p.G425_splice	SPPL2B_uc002lvr.3_Splice_Site_p.G425_splice	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	426						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCCCCAGGGCTGCTGGT	0.677000														20			8		0	0	0.003080	0	0
OSBPL5	114879	broad.mit.edu	37	11	3109521	3109521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:3109521G>A	uc001lxk.2	-	21	2712	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	OSBPL5_uc010qxq.1_Missense_Mutation_p.P763S|OSBPL5_uc009ydw.2_Missense_Mutation_p.P784S|OSBPL5_uc001lxl.2_Missense_Mutation_p.P784S|OSBPL5_uc001lxj.2_Missense_Mutation_p.P306S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	852					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGGAGGCCTGGGGTCGGTGCC	0.632000														1			27		0	0	0.007291	0	0
GATA2	2624	broad.mit.edu	37	3	128205212	128205212	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128205212C>T	uc003ekm.3	-	4	665	c.230_splice	c.e4-1	p.A77_splice	GATA2_uc003ekn.3_Splice_Site_p.A77_splice|GATA2_uc003eko.2_Splice_Site_p.A77_splice	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	77					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTCAGGCGGGCTGCGGGCAAA	0.642000			Mis		AML(CML blast transformation)									22			5		0	0	0.001168	0	0
OR14A16	284532	broad.mit.edu	37	1	247978180	247978180	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247978180G>A	uc001idm.1	-	0	852	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGTATATAATGGGATTAAAGG	0.408000														27			8		0	0	0.006214	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948542	2948542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:2948542G>A	uc003muk.3	-	5	3116	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	SERPINB6_uc003mui.3_Missense_Mutation_p.S257F|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.S374F|SERPINB6_uc003mum.3_Missense_Mutation_p.S374F|SERPINB6_uc003mun.3_Missense_Mutation_p.S374F|SERPINB6_uc003muo.3_Missense_Mutation_p.S374F	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	374					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	p.S374F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCACGGAGAGGAAAAGCGGCC	0.602000														60			11		0	0	0.000978	0	0
UGGT2	55757	broad.mit.edu	37	13	96506591	96506591	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:96506591A>G	uc001vmt.3	-	34	4317	c.4147T>C	c.(4147-4149)Tta>Cta	p.L1383L	UGGT2_uc001vms.3_Silent_p.L103L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1383	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCGTCTTAAAAGATGTGAT	0.368000														40			25		0	0	0.006320	0	0
ALS2	57679	broad.mit.edu	37	2	202603418	202603418	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202603418A>C	uc002uyo.3	-	11	2748	c.2392T>G	c.(2392-2394)Ttc>Gtc	p.F798V	ALS2_uc002uyp.4_Missense_Mutation_p.F798V|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	798	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAAGCTGGAATCCTCCCATA	0.388000														14			8		0	0	0.000673	0	0
ADD2	119	broad.mit.edu	37	2	70931543	70931543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:70931543C>T	uc021vjc.1	-	3	497	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.G78R|ADD2_uc002sgz.3_Missense_Mutation_p.G78R|ADD2_uc010fdt.2_Missense_Mutation_p.G78R|ADD2_uc002shc.2_Missense_Mutation_p.G78R|ADD2_uc010fdu.2_Missense_Mutation_p.G94R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	78					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.K77N(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GAGTTGTTCCCCTTCTTCATC	0.597000														36			21		0	0	0.002299	0	0
FHDC1	85462	broad.mit.edu	37	4	153897073	153897073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:153897073C>T	uc003inf.2	+	10	2705	c.2630C>T	c.(2629-2631)cCc>cTc	p.P877L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	877					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCTCCAAGCCCGGGAGCGCC	0.642000														53			31		0	0	0.001512	0	0
VANGL1	81839	broad.mit.edu	37	1	116206850	116206850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:116206850C>T	uc001efv.1	+	3	1044	c.773C>T	c.(772-774)aCc>aTc	p.T258I	VANGL1_uc009wgy.1_Missense_Mutation_p.T256I|VANGL1_uc021ose.1_Missense_Mutation_p.T258I	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	258					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCCGCTCCACCGATGGCGAG	0.597000														11			5		0	0	0.000602	0	0
PCDH12	51294	broad.mit.edu	37	5	141334755	141334755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141334755C>T	uc003llx.3	-	0	3873	c.2662G>A	c.(2662-2664)Ggg>Agg	p.G888R		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	888					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCCTCCCTGTGGGGCTG	0.647000														23			16		0	0	0.006122	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894484	78894484	+	Missense_Mutation	SNP	G	T	T	rs72648887		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78894484G>T	uc002bec.3	-	4	1001	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	CHRNA3_uc002beb.3_Missense_Mutation_p.P167Q|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTAATCAAACGGGAAGTAGGT	0.488000														185			6		0.00307968	0.0048155	0.003080	1	0
ACLY	47	broad.mit.edu	37	17	40042510	40042510	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40042510G>A	uc002hyg.3	-	17	2090	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	ACLY_uc002hyh.3_Silent_p.L633L|ACLY_uc002hyi.3_Silent_p.L697L|ACLY_uc010wfx.2_Silent_p.L687L|ACLY_uc010wfy.2_Silent_p.L372L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	643					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)				ATGTTGTCCAGCATCCCACCT	0.547000														31			7		0	0	0.001984	0	0
OR52R1	119695	broad.mit.edu	37	11	4824861	4824861	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4824861G>A	uc021qcs.1	-	0	750	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCCAAGATGACACAGATAT	0.473000														16			43		0	0	0.002852	0	0
LAMA1	284217	broad.mit.edu	37	18	6973112	6973112	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6973112G>A	uc002knm.3	-	46	6812	c.6718C>T	c.(6718-6720)Ctg>Ttg	p.L2240L	LAMA1_uc010wzj.2_Silent_p.L1716L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2240	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTACATCCAGAACATTAGCT	0.383000														19			66		0	0	0.003610	0	0
COL25A1	84570	broad.mit.edu	37	4	110223081	110223081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:110223081G>A	uc021xqo.1	-	0	151	c.95C>T	c.(94-96)cCc>cTc	p.P32L	COL25A1_uc003hze.1_Missense_Mutation_p.P32L|COL25A1_uc021xqp.1_Missense_Mutation_p.P32L|COL25A1_uc003hzg.3_Missense_Mutation_p.P32L|COL25A1_uc003hzh.1_Missense_Mutation_p.P32L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	32						collagen|extracellular space	beta-amyloid binding|heparin binding	p.P32P(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCACACGGGGGCATGGTCCG	0.667000														5			18		0	0	0.006122	0	0
ABCF1	23	broad.mit.edu	37	6	30546139	30546140	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30546139_30546140CC>TT	uc003nql.3	+	4	453_454	c.358_359CC>TT	c.(358-360)ccc>TTc	p.P120F	ABCF1_uc003nqk.2_Missense_Mutation_p.P121F|ABCF1_uc003nqm.3_Missense_Mutation_p.P120F	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	120					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CGCCCCAAAACCCCGCGGAGGG	0.490000														70			12		0	0	0.004672	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017731	170017731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:170017731C>T	uc003isa.1	-	11	2941	c.2606G>A	c.(2605-2607)gGc>gAc	p.G869D		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	869	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.G869G(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTGTAATGTGCCTTTGAACCA	0.418000														36			55		0	0	0.003610	0	0
IGSF21	84966	broad.mit.edu	37	1	18554492	18554492	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:18554492C>T	uc001bau.2	+	1	554	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	57	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCGGGAGATCGTGTGGTACC	0.587000														29			20		0	0	0.001216	0	0
LILRB3	11025	broad.mit.edu	37	19	54803727	54803727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54803727C>T	uc002qfd.3	-	2	189	c.97G>A	c.(97-99)Gct>Act	p.A33T	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.A33T	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	33					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGGCTCAGCCCAGAGGGTG	0.552000														49			16		0	0	0.001216	0	0
REV1	51455	broad.mit.edu	37	2	100058907	100058907	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:100058907G>A	uc002tad.3	-	4	587	c.375C>T	c.(373-375)tcC>tcT	p.S125S	REV1_uc002tac.3_Silent_p.S125S|REV1_uc002tae.1_Silent_p.S104S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	125	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGAATGTAGGAGAGGAGTC	0.443000								Direct reversal of damage						48			17		0	0	0.004990	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967359	31967359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31967359G>A	uc010gek.3	-	8	1181	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.R249C|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.R339C|CDK5RAP1_uc002wza.3_Missense_Mutation_p.R339C|CDK5RAP1_uc010gel.3_Missense_Mutation_p.R249C|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R339C	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	353					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R339C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGAGCAAAACGAAGTCCTCCT	0.483000														34			46		0	0	0.002852	0	0
BCAT1	586	broad.mit.edu	37	12	24989496	24989496	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24989496G>A	uc001rgd.4	-	7	1379	c.852C>T	c.(850-852)atC>atT	p.I284I	BCAT1_uc001rgc.3_Silent_p.I283I|BCAT1_uc010six.2_Silent_p.I296I|BCAT1_uc010siy.2_Silent_p.I247I|BCAT1_uc001rge.4_Silent_p.I223I	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	284					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGAAGAATGATGCCATCTA	0.418000														7			13		0	0	0.002450	0	0
KRT14	3861	broad.mit.edu	37	17	39740105	39740105	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39740105C>T	uc002hxf.2	-	3	895	c.834G>A	c.(832-834)gtG>gtA	p.V278V	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	278	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGCTCAGGTCCACGCCAGGTG	0.572000														86			58		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803026	185803026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185803026C>T	uc002uph.3	+	3	3497	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	968						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCCTAAATCCTATCTTTGC	0.383000														23			16		0	0	0.001216	0	0
NLRP6	171389	broad.mit.edu	37	11	284554	284554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:284554G>A	uc010qvs.2	+	6	2452	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	NLRP6_uc010qvt.2_Missense_Mutation_p.D817N	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	818						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCACCCTGGATCTCAGCGG	0.677000														15			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179469558	179469558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179469558C>T	uc021vsy.1	-	229	46779	c.46554G>A	c.(46552-46554)tgG>tgA	p.W15518*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W9213*|TTN_uc021vta.1_Nonsense_Mutation_p.W9146*|TTN_uc021vtb.1_Nonsense_Mutation_p.W9021*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16445	Fibronectin type-III 13.						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)			GAGGGGCATCCCATGTCAAGT	0.438000														27			21		0	0	0.001523	0	0
PASK	23178	broad.mit.edu	37	2	242065899	242065899	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242065899G>A	uc002wao.2	-	9	2564	c.2431C>T	c.(2431-2433)Cga>Tga	p.R811*	PASK_uc010zol.2_Nonsense_Mutation_p.R625*|PASK_uc010zom.2_Nonsense_Mutation_p.R776*|PASK_uc010fzl.2_Nonsense_Mutation_p.R811*|PASK_uc010zon.2_Nonsense_Mutation_p.R592*|PASK_uc021vzf.1_Nonsense_Mutation_p.R811*|PASK_uc002wap.3_Nonsense_Mutation_p.R354*|PASK_uc002waq.3_Nonsense_Mutation_p.R811*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	811					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGAACCGTCGGCCTTGGCCA	0.562000														20			10		0	0	0.000673	0	0
DNAH7	56171	broad.mit.edu	37	2	196801391	196801391	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196801391G>A	uc002utj.4	-	19	3305	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1068	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F1068S(1)		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						AGAATCTGGGGAAAAAGAGGC	0.338000														31			15		0	0	0.007413	0	0
ABI2	10152	broad.mit.edu	37	2	204231653	204231653	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:204231653C>T	uc002vaa.3	+	1	406	c.171C>T	c.(169-171)tcC>tcT	p.S57S	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_5'UTR|ABI2_uc002uzz.3_Silent_p.S57S|ABI2_uc010zih.2_5'UTR|ABI2_uc010zii.2_Silent_p.S57S|TRNA_Pseudo_uc021vvk.1_5'Flank|ABI2_uc002vab.3_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	57	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCACCCAATCCTTAGCAAGTG	0.433000														13			11		0	0	0.000978	0	0
NRXN2	9379	broad.mit.edu	37	11	64402788	64402788	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64402788C>T	uc021qkw.1	-	17	4002	c.3540G>A	c.(3538-3540)cgG>cgA	p.R1180R	NRXN2_uc021qkx.1_Silent_p.R1140R|NRXN2_uc001oas.3_Silent_p.R1140R|NRXN2_uc001oap.3_Silent_p.R134R|NRXN2_uc001oaq.3_Silent_p.R847R	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1180	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.R1180R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCTGTCCACCCGCACCAGCA	0.637000														23			17		0	0	0.004990	0	0
RBP3	5949	broad.mit.edu	37	10	48389674	48389674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48389674C>T	uc001jez.3	-	0	1318	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	402	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGCAGCGTCGGGCGCGGGC	0.652000														39			16		0	0	0.004990	0	0
SPCS2	9789	broad.mit.edu	37	11	74676882	74676882	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:74676882C>T	uc001ovu.2	+	2	312	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	91					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						GTACAATCTCCTGTTTCTTTG	0.393000														94			36		0	0	0.006999	0	0
SENP7	57337	broad.mit.edu	37	3	101062792	101062792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101062792G>A	uc003dut.3	-	13	1955	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	SENP7_uc003duu.3_Missense_Mutation_p.S550F|SENP7_uc003duv.3_Missense_Mutation_p.S582F|SENP7_uc003duw.3_Missense_Mutation_p.S549F|SENP7_uc003dux.3_Missense_Mutation_p.S451F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	615					proteolysis	nucleus	cysteine-type peptidase activity	p.S549Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAATTCACTAGATTTTGCTAC	0.259000														5			5		0	0	0.001168	0	0
CCDC67	159989	broad.mit.edu	37	11	93088703	93088703	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93088703C>T	uc001pdq.3	+	2	296	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q66*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q66*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	66										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCAGAAAGGTCAAGAGGTACT	0.333000														21			7		0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152323862	152323862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152323862C>T	uc001ezw.4	-	2	6473	c.6400G>A	c.(6400-6402)Gga>Aga	p.G2134R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2134							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTCTCCATGTTGAGAT	0.522000														339			90		0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23905533	23905533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23905533G>A	uc001uon.2	-	9	13071	c.12482C>T	c.(12481-12483)cCt>cTt	p.P4161L	SACS_uc001uoo.2_Missense_Mutation_p.P4014L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4161					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTTCAGCAGGAATTGGTGT	0.413000														88			33		0	0	0.003755	0	0
NHS	4810	broad.mit.edu	37	X	17744272	17744272	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:17744272C>T	uc011mix.2	+	6	2384	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	NHS_uc004cxx.3_Silent_p.F661F|NHS_uc004cxy.3_Silent_p.F505F|NHS_uc004cxz.3_Silent_p.F484F|NHS_uc004cya.3_Silent_p.F384F	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	661						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCAGTGTTTTCGTGACAGAGC	0.512000														11			96		0	0	0.003610	0	0
HEXA	3073	broad.mit.edu	37	15	72642919	72642920	+	Missense_Mutation	DNP	GG	AA	AA	rs138058578	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72642919_72642920GG>AA	uc002aun.4	-	6	951_952	c.744_745CC>TT	c.(742-747)ctccgg>ctTTgg	p.R249W	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.R260W|HEXA_uc010bix.3_Missense_Mutation_p.R249W|HEXA_uc010biy.2_Missense_Mutation_p.R112W|HEXA_uc010uko.1_Missense_Mutation_p.R75W	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	249			R -> W (in HEXA pseudodeficiency).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CGGATACCCCGGAGCCGTGCGT	0.540000														56			37		0	0	0.004672	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032432	4032432	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:4032432C>T	uc003mvv.3	+	1	772	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	227	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGCCCATCCAAAAGAAGTA	0.388000														78			193		0	0	0.003610	0	0
ECE1	1889	broad.mit.edu	37	1	21546524	21546524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21546524G>A	uc001bek.2	-	18	2312	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	ECE1_uc001bem.2_Missense_Mutation_p.S730F|ECE1_uc001bej.2_Missense_Mutation_p.S734F|ECE1_uc001bei.2_Missense_Mutation_p.S743F|ECE1_uc010odl.1_Missense_Mutation_p.S714F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	746					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GAACTCCTTGGAATTGGAGAG	0.612000														26			15		0	0	0.006122	0	0
FOXN1	8456	broad.mit.edu	37	17	26861910	26861910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26861910G>A	uc010crm.3	+	7	1519	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	FOXN1_uc002hbj.3_Missense_Mutation_p.D441N	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	441					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCCTGCAGGACCTACTTAT	0.657000														12			20		0	0	0.002299	0	0
FGA	2243	broad.mit.edu	37	4	155507767	155507767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:155507767C>T	uc003iod.1	-	4	872	c.814G>A	c.(814-816)Gga>Aga	p.G272R	FGA_uc003ioe.1_Missense_Mutation_p.G272R|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	272					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGGAGCCTCCTCGAGTAATC	0.542000														105			29		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179577252	179577252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179577252C>T	uc021vsy.1	-	91	23890	c.23665G>A	c.(23665-23667)Ggt>Agt	p.G7889S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4550S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8816	Ig-like 61.						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)			GTGAATGTACCCTCTAGGATC	0.388000														15			6		0	0	0.001168	0	0
FAM83E	54854	broad.mit.edu	37	19	49106982	49106982	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49106982G>A	uc002pjn.2	-	3	1010	c.945C>T	c.(943-945)tcC>tcT	p.S315S		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	315										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGCGGCGGCGGGACACGCGGT	0.801000														0			5		0	0	0.000602	0	0
NRG3	10718	broad.mit.edu	37	10	83635430	83635430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:83635430C>T	uc021pvc.1	+	0	361	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	NRG3_uc010qlz.1_Missense_Mutation_p.P112S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P112S|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	112	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGCCAGGACCCCTTCTTCCT	0.647000														22			15		0	0	0.004007	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565548	24565548	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:24565548G>A	uc002wtw.1	+	2	1170	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	179					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.P178P(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCCCCCGCGGGACCACCTGG	0.557000														94			39		0	0	0.005524	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153930	248153930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248153930C>T	uc001idv.1	+	0	362	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						GGCCTATGATCGTTATGTGGC	0.453000														57			47		0	0	0.003214	0	0
ZNF217	7764	broad.mit.edu	37	20	52192387	52192387	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:52192387G>A	uc002xwq.4	-	2	3258	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	ZNF217_uc010gij.1_Silent_p.F964F	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	972					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGAGCTCAGGAACCTTGGTT	0.552000														76			12		0	0	0.001368	0	0
FZD2	2535	broad.mit.edu	37	17	42636334	42636334	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42636334C>T	uc002igx.2	+	0	1523	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	426					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCTGTTCATCGGCACGTCCT	0.642000														78			26		0	0	0.005443	0	0
PSG5	5673	broad.mit.edu	37	19	43679500	43679500	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43679500C>T	uc002ovu.3	-	3	962	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.G277G	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	277	Ig-like C2-type 2.				female pregnancy	extracellular region		p.G277G(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAAACTTCCCATTAATTG	0.443000														169			60		0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36075412	36075412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:36075412C>T	uc003gsq.2	-	31	4980	c.4642G>A	c.(4642-4644)Gaa>Aaa	p.E1548K	ARAP2_uc003gso.3_Non-coding_Transcript	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1548					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						CGTTTTCGTTCCTTTCCAGCT	0.398000														28			26		0	0	0.005443	0	0
OR51E2	81285	broad.mit.edu	37	11	4703487	4703487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4703487G>A	uc001lzk.2	-	1	699	c.455C>T	c.(454-456)tCc>tTc	p.S152F	OR51E2_uc021qcr.1_Missense_Mutation_p.S152F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAAAAGAGGGATCCGCGGAC	0.542000														13			38		0	0	0.005524	0	0
ZIC1	7545	broad.mit.edu	37	3	147131198	147131198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:147131198G>A	uc003ewe.3	+	2	1923	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	402	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCTGGCTACGAATCCTCCAC	0.612000														41			43		0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	21970176	21970176	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21970176C>T	uc001rfh.3	-	30	3857	c.3837G>A	c.(3835-3837)gtG>gtA	p.V1279V	ABCC9_uc001rfi.1_Silent_p.V1279V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1279					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)	TCACCTTCTTCACTGCACCCA	0.358000														89			34		0	0	0.007835	0	0
SFXN2	118980	broad.mit.edu	37	10	104486897	104486897	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104486897C>T	uc001kwb.2	+	2	481	c.315C>T	c.(313-315)ttC>ttT	p.F105F	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	105					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCACGGGCTTCATGCTCCAGT	0.557000														43			14		0	0	0.003163	0	0
CDHR2	54825	broad.mit.edu	37	5	176003066	176003066	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176003066C>T	uc021yie.1	+	11	1348	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	CDHR2_uc003mem.2_Silent_p.L358L|CDHR2_uc003men.1_Silent_p.L358L	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	358					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTGCAGCCTCCCAGCCTGCA	0.577000														19			41		0	0	0.001951	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599265	136599265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599265G>A	uc003qgx.1	-	3	1007	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	BCLAF1_uc003qgy.1_Missense_Mutation_p.H250Y|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.H250Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H252Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	252					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGCAGAGTGAACTGTACTG	0.438000														74			13		0	0	0.004007	0	0
ZNF532	55205	broad.mit.edu	37	18	56587472	56587472	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:56587472G>A	uc010xeg.2	+	2	2150	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K	ZNF532_uc002lhp.3_Silent_p.K649K|ZNF532_uc002lho.3_Silent_p.K651K|ZNF532_uc002lhr.3_Silent_p.K649K|ZNF532_uc002lhs.3_Silent_p.K649K	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATTGTACAAAGAACCTCGTTT	0.493000														47			12		0	0	0.001855	0	0
RGCC	28984	broad.mit.edu	37	13	42041041	42041041	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:42041041C>T	uc001uyi.2	+	2	620	c.318C>T	c.(316-318)ctC>ctT	p.L106L		NM_014059	NP_054778	Q9H4X1	RGC32_HUMAN	Homo sapiens chromosome 13 open reading frame 15 (C13orf15), mRNA.	106	Ser/Thr-rich.				cell cycle|regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus											CAGCTCTTCTCTCTGCCACTG	0.413000														51			37		0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31323113	31323113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31323113G>A	uc003jhe.2	+	11	2431	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	691					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R690M(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTACGAAGGGACATTGTGCC	0.498000														19			34		0	0	0.003271	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917379	65917379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65917379G>A	uc010ujf.2	+	1	1248	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SLC24A1_uc010ujd.1_Missense_Mutation_p.G321R|SLC24A1_uc010uje.1_Missense_Mutation_p.G321R|SLC24A1_uc010ujg.2_Missense_Mutation_p.G321R|SLC24A1_uc010ujh.2_Missense_Mutation_p.G321R	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	321					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTCTGAGGGGCAGGTGAC	0.567000														45			42		0	0	0.006230	0	0
LILRB5	10990	broad.mit.edu	37	19	54760538	54760539	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54760538_54760539CC>TT	uc010yer.1	-	2	279_280	c.168_169GG>AA	c.(166-171)gaggag>gaAAag	p.E57K	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.E57K|LILRB5_uc002qez.3_Missense_Mutation_p.E57K|LILRB5_uc002qex.3_Missense_Mutation_p.E57K|LILRB5_uc002qfa.1_Missense_Mutation_p.E47K|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	57	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACGGTACTCCTCAGTCTCCA	0.624000														112			35		0	0	0.004672	0	0
MUSK	4593	broad.mit.edu	37	9	113547100	113547100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113547100C>T	uc022blv.1	+	11	1524	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P375S|MUSK_uc022blu.1_Missense_Mutation_p.P365S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	464					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TACAGCATTCCCACCAATGAC	0.348000														28			20		0	0	0.001216	0	0
ZNF536	9745	broad.mit.edu	37	19	30935299	30935299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30935299C>T	uc002nsu.1	+	1	968	c.830C>T	c.(829-831)aCc>aTc	p.T277I	ZNF536_uc010edd.1_Missense_Mutation_p.T277I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCCGCTGTACCTTCTGCAAG	0.667000														13			13		0	0	0.001855	0	0
KRT12	3859	broad.mit.edu	37	17	39019775	39019775	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39019775G>A	uc002hvk.2	-	4	1081	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	353	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TCCAGGTTCTGAAAGGCGCGA	0.557000														61			11		0	0	0.000673	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627398	21627398	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:21627398G>A	uc004czx.2	+	19	2835	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	CNKSR2_uc004czw.3_Silent_p.Q785Q|CNKSR2_uc011mjn.2_Silent_p.Q736Q|CNKSR2_uc011mjo.2_Silent_p.Q755Q|CNKSR2_uc004czy.3_Silent_p.Q377Q	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	785					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACTATCTTCAGACTCTGCCCC	0.572000														10			53		0	0	0.003610	0	0
ZNF704	619279	broad.mit.edu	37	8	81733661	81733661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:81733661G>A	uc003yby.2	-	1	401	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	57						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTTTGCTCAAGGAGACAGATG	0.453000														182			56		0	0	0.003610	0	0
CCDC7	221016	broad.mit.edu	37	10	32742280	32742280	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:32742280C>T	uc001iwj.3	+	2	858	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CCDC7_uc009xlu.2_Non-coding_Transcript|CCDC7_uc001iwk.3_Silent_p.S96S|CCDC7_uc009xlv.3_Non-coding_Transcript|CCDC7_uc009xly.1_Non-coding_Transcript|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Silent_p.S96S	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	96										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGTTGTTTCCACTTTGGAAG	0.269000														7			16		0	0	0.003163	0	0
C1RL	51279	broad.mit.edu	37	12	7252584	7252584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7252584C>T	uc001qsn.3	-	3	622	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	C1RL_uc009zft.3_Missense_Mutation_p.G177S	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	177					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTCAGAGCCCCTGCTGGCC	0.597000														25			4		0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141081540	141081540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141081540C>T	uc002tvj.1	-	80	13408	c.12436G>A	c.(12436-12438)Ggt>Agt	p.G4146S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4146					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)		TCTACTGAACCATGGCCAAAT	0.299000										TSP Lung(27;0.18)				63			17		0	0	0.004007	0	0
REP15	387849	broad.mit.edu	37	12	27849697	27849697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27849697C>T	uc001rig.1	+	0	270	c.202C>T	c.(202-204)Caa>Taa	p.Q68*		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	Homo sapiens RAB15 effector protein (REP15), mRNA.	68						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					CACTTTCTGCCAAGAAAAGGG	0.453000														31			21		0	0	0.002299	0	0
OR4K17	390436	broad.mit.edu	37	14	20585856	20585856	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20585856C>T	uc001vwo.1	+	0	291	c.291C>T	c.(289-291)ctC>ctT	p.L97L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	69					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)		TTGGTAATCTCTCTTTTGTAG	0.388000														146			112		0	0	0.003610	0	0
LMX1A	4009	broad.mit.edu	37	1	165322368	165322368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:165322368C>T	uc001gcz.2	-	2	402	c.208G>A	c.(208-210)Gag>Aag	p.E70K	LMX1A_uc021pdz.1_Missense_Mutation_p.E70K	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	70	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGGTGGTCTCCAGGGGCTCT	0.612000														26			63		0	0	0.003610	0	0
TTLL13	440307	broad.mit.edu	37	15	90801445	90801445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:90801445G>A	uc002bpd.1	+	8	1399	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	371	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGCCTGTTTTGAAATCCTTGG	0.473000														134			116		0	0	0.003610	0	0
DDC	1644	broad.mit.edu	37	7	50531040	50531040	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50531040A>G	uc003tpg.4	-	13	1533	c.1332T>C	c.(1330-1332)ttT>ttC	p.F444F	DDC_uc022ade.1_Silent_p.F366F|DDC_uc003tpf.4_Silent_p.F444F|DDC_uc022adb.1_Silent_p.F406F|DDC_uc022adc.1_Silent_p.F396F|DDC_uc022add.1_Silent_p.F351F	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	444					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGCGCAGGACAAACTTGTCCC	0.527000														64			18		0	0	0.006122	0	0
TAOK2	9344	broad.mit.edu	37	16	29999291	29999291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29999291C>T	uc010bzm.2	+	14	3754	c.3719C>T	c.(3718-3720)cCc>cTc	p.P1240L	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P1120L|TAOK2_uc002dva.2_Missense_Mutation_p.P1233L|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P1060L	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1233					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCCTGCCCCCCTGGAGGTAG	0.652000														6			7		0	0	0.004482	0	0
THRAP3	9967	broad.mit.edu	37	1	36769490	36769490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36769490C>T	uc001cae.4	+	11	2964	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	THRAP3_uc001caf.4_Missense_Mutation_p.R914W|SH3D21_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	914					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R914Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTCATGTTCCGGAAATCAAG	0.607000			T	USP6	aneurysmal bone cysts									21			16		0	0	0.004007	0	0
ODF2	4957	broad.mit.edu	37	9	131254717	131254717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131254717C>T	uc004bvc.3	+	14	1827	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	ODF2_uc011maz.2_Missense_Mutation_p.P517S|ODF2_uc011mbc.2_Missense_Mutation_p.P436S|ODF2_uc022boj.1_Missense_Mutation_p.P542S|ODF2_uc004bva.3_Missense_Mutation_p.P561S|ODF2_uc004bvb.3_Missense_Mutation_p.P493S|ODF2_uc011mbd.2_Missense_Mutation_p.P517S|ODF2_uc011mbe.2_Missense_Mutation_p.P512S|ODF2_uc011mbf.2_Missense_Mutation_p.P498S|ODF2_uc004bvd.4_Missense_Mutation_p.P517S|ODF2_uc004bve.3_Missense_Mutation_p.P498S	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	517					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCTTTGCTCCAATGGAGGA	0.507000														36			15		0	0	0.006122	0	0
UFSP2	55325	broad.mit.edu	37	4	186329116	186329116	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:186329116A>G	uc003ixo.2	-	8	1212	c.1095T>C	c.(1093-1095)ggT>ggC	p.G365G	UFSP2_uc003ixq.2_Silent_p.G255G	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	365						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTGACGTTATACCGATCAATT	0.383000														24			7		0	0	0.003080	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330638	42330638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42330638C>T	uc002igf.4	-	16	2308	c.2159G>A	c.(2158-2160)gGg>gAg	p.G720E	SLC4A1_uc021tyc.1_Missense_Mutation_p.G354E	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.	720	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)		CCAGGGCATCCCAAAGAGGGC	0.637000														29			22		0	0	0.001523	0	0
ZNF709	163051	broad.mit.edu	37	19	12575350	12575350	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12575350G>A	uc002mtv.4	-	3	1547	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	ZNF709_uc002mtw.4_Silent_p.S430S|ZNF709_uc002mtx.4_Silent_p.S462S	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCATTCGAAAGGAACTGGAAC	0.398000														85			36		0	0	0.004878	0	0
RAET1G	353091	broad.mit.edu	37	6	150240791	150240791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150240791C>T	uc010kii.1	-	1	315	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	83	MHC class I alpha-1 like.				antigen processing and presentation|immune response	MHC class I protein complex|integral to membrane	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCGTTGTGACATTTAGTTTC	0.493000														102			45		0	0	0.003610	0	0
MYL3	4634	broad.mit.edu	37	3	46904814	46904814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46904814G>A	uc003cql.1	-	0	160	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	23					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGAGGTGCGGGAGCTGGAGCT	0.597000														58			21		0	0	0.001882	0	0
SART1	9092	broad.mit.edu	37	11	65734964	65734964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65734964C>T	uc001ogl.3	+	10	1428	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	446					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGTCGCCGCCGAGTGTCCGA	0.677000														26			16		0	0	0.003163	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433642	67433642	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67433642C>T	uc001omr.3	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	ALDH3B2_uc001oms.3_Silent_p.Q90Q|ALDH3B2_uc009ysa.1_Silent_p.Q90Q	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	90					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GCCCTGTCTCCTGGGGTCCGC	0.657000														63			27		0	0	0.002445	0	0
RPS14	6208	broad.mit.edu	37	5	149826385	149826385	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149826385G>A	uc003lsh.3	-	2	564	c.291C>T	c.(289-291)ctC>ctT	p.L97L	RPS14_uc003lsi.3_Silent_p.L97L|RPS14_uc003lsj.3_Silent_p.L97L	NM_001025071	NP_005608	P62263	RS14_HUMAN	Homo sapiens ribosomal protein S14 (RPS14), transcript variant 1, mRNA.	97					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCCCGGAGTTTGATGT	0.572000														73			11		0	0	0.000978	0	0
PSD4	23550	broad.mit.edu	37	2	113953731	113953731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113953731G>A	uc002tjc.3	+	11	2416	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	PSD4_uc002tjd.3_Missense_Mutation_p.E366K|PSD4_uc002tje.3_Missense_Mutation_p.E716K|PSD4_uc002tjf.3_Missense_Mutation_p.E366K|PSD4_uc002tjg.3_5'Flank|PSD4_uc010yxs.2_5'Flank|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	745					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGATGAAGAAGACACAGC	0.552000														64			21		0	0	0.002299	0	0
MKL2	57496	broad.mit.edu	37	16	14345755	14345755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14345755C>T	uc010uza.2	+	13	2595	c.2440C>T	c.(2440-2442)Cca>Tca	p.P814S	MKL2_uc002dcg.3_Missense_Mutation_p.P764S|MKL2_uc002dcj.3_Missense_Mutation_p.P59S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	803					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACAGTTCTTCCATATCAGAG	0.398000														48			57		0	0	0.003610	0	0
OTOGL	283310	broad.mit.edu	37	12	80729901	80729901	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:80729901C>T	uc001szd.3	+	37	4560	c.4554C>T	c.(4552-4554)tgC>tgT	p.C1518C		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATATCTGCTGCCCTGAGTGGG	0.418000														17			7		0	0	0.003080	0	0
CCDC164	92749	broad.mit.edu	37	2	26672863	26672863	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26672863G>A	uc002rhg.2	+	12	1584	c.1510_splice	c.e12-1	p.G504_splice		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	504										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						CTTCTCCCCAGGGGTTCCTCA	0.582000														12			10		0	0	0.001368	0	0
OTOP3	347741	broad.mit.edu	37	17	72945387	72945387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72945387G>A	uc010wrr.2	+	6	1667	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E	OTOP3_uc010wrq.2_Missense_Mutation_p.G538E	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	556						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TTTGAGAACGGGCTAGAAAAG	0.567000														90			25		0	0	0.001512	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575616	56575616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56575616G>A	uc001skb.3	-	8	818	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	SMARCC2_uc001skd.3_Missense_Mutation_p.H238Y|SMARCC2_uc001ska.3_Missense_Mutation_p.H238Y|SMARCC2_uc001skc.3_Missense_Mutation_p.H238Y|SMARCC2_uc010sqf.2_Missense_Mutation_p.H127Y	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	238					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACTTTGCATGAACCTAAAGT	0.473000														29			18		0	0	0.007413	0	0
DNAH2	146754	broad.mit.edu	37	17	7644283	7644283	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7644283C>T	uc002giu.1	+	9	1676	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	DNAH2_uc002git.3_Silent_p.L636L|DNAH2_uc010vuk.2_Silent_p.L554L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	554	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCACATCCTCCGGCGTCGCA	0.612000														33			40		0	0	0.007835	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772572	140772572	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140772572C>T	uc003lkd.2	+	0	1090	c.192C>T	c.(190-192)gtC>gtT	p.V64V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.V64V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	64	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)			AGCACGGAGTCCGTATCGTCT	0.612000														21			45		0	0	0.003610	0	0
TCP11L2	255394	broad.mit.edu	37	12	106715470	106715470	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:106715470C>T	uc001tln.3	+	4	795	c.621C>T	c.(619-621)atC>atT	p.I207I	TCP11L2_uc001tll.3_Silent_p.I207I|TCP11L2_uc001tlm.3_Silent_p.I207I	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	207										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTGGCAACATCGTGGAGGTGC	0.463000														9			56		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764449	140764449	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140764449C>T	uc003lka.2	+	0	1983	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.T661T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	663	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)			TCACACTCACCGTGGCTGTGG	0.642000														36			9		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250642	140250642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140250642G>A	uc003lia.2	+	0	2812	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	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_uc011dae.2_Missense_Mutation_p.D652N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	664	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGTGAAGGATCACGGTGA	0.672000														36			22		0	0	0.001523	0	0
MME	4311	broad.mit.edu	37	3	154886309	154886309	+	Silent	SNP	C	T	T	rs148809350		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:154886309C>T	uc010hvr.1	+	18	2020	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L	MME_uc003fab.1_Silent_p.L603L|MME_uc003fac.1_Silent_p.L603L|MME_uc003fad.1_Silent_p.L603L|MME_uc003fae.1_Silent_p.L603L	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	603					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)	ATGGAGACCTCGTTGACTGGT	0.378000														15			16		0	0	0.004007	0	0
CXorf22	170063	broad.mit.edu	37	X	36007618	36007618	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:36007618G>T	uc004ddj.3	+	15	2962	c.2896G>T	c.(2896-2898)Ggg>Tgg	p.G966W	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	966										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGAATTTGTTGGGTATACACT	0.333000														20			8		3.09899e-07	4.89445e-07	0.004482	1	0
ZBTB4	57659	broad.mit.edu	37	17	7365321	7365321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7365321G>A	uc002ghc.4	-	3	3230	c.2980C>T	c.(2980-2982)Ccc>Tcc	p.P994S	ZBTB4_uc002ghd.4_Missense_Mutation_p.P994S	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCTTAGGGGGAATTGGTGGA	0.607000														67			5		0	0	0.001168	0	0
EPYC	1833	broad.mit.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:91358040G>A	uc001tbk.3	-	6	955	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363000														16			11		0	0	0.002450	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590025	140590025	+	Missense_Mutation	SNP	C	T	T	rs141554375		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140590025C>T	uc003liz.3	+	0	1735	c.1546C>T	c.(1546-1548)Ctc>Ttc	p.L516F	PCDHB12_uc011dak.2_Missense_Mutation_p.L179F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	516	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTTGCCCTCAGGTCGCT	0.687000														81			68		0	0	0.003610	0	0
CDH18	1016	broad.mit.edu	37	5	19571736	19571736	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:19571736A>G	uc003jgd.3	-	7	1739	c.1205T>C	c.(1204-1206)gTt>gCt	p.V402A	CDH18_uc011cnm.2_Missense_Mutation_p.V402A|CDH18_uc003jgc.3_Missense_Mutation_p.V402A|CDH18_uc021xwu.1_Missense_Mutation_p.V402A	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	402	Cadherin 4.				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)					AACTGTACCAACGACGGTCCC	0.423000														16			40		0	0	0.002852	0	0
CDH11	1009	broad.mit.edu	37	16	65006808	65006808	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:65006808G>A	uc002eoi.3	-	9	1824	c.1390_splice	c.e9+1	p.H464_splice	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Splice_Site_p.H464_splice|CDH11_uc010vin.2_Splice_Site_p.H338_splice	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	464	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATACTTACGGATTTCTGCTG	0.358000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				33			17		0	0	0.006122	0	0
RBM14	10432	broad.mit.edu	37	11	66392846	66392846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66392846C>T	uc001oit.3	+	1	1638	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_Missense_Mutation_p.A44V	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	500	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCTATGGTGCCGCAGCAGCC	0.617000														62			8		0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168102690	168102690	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168102690G>A	uc002udx.3	+	8	4877	c.4788G>A	c.(4786-4788)caG>caA	p.Q1596Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q1421Q|XIRP2_uc010fpq.3_Silent_p.Q1374Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1421					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						CTGAGATACAGAAAGAAGAAA	0.383000														17			11		0	0	0.000978	0	0
TRPM6	140803	broad.mit.edu	37	9	77442714	77442714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77442714G>A	uc004ajl.1	-	6	1059	c.821C>T	c.(820-822)tCt>tTt	p.S274F	TRPM6_uc004ajk.1_Missense_Mutation_p.S269F|TRPM6_uc022bib.1_Missense_Mutation_p.S269F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S274F|TRPM6_uc010mpd.1_Missense_Mutation_p.S274F|TRPM6_uc010mpe.1_Missense_Mutation_p.S274F|TRPM6_uc004ajn.1_Missense_Mutation_p.S274F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	274					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTGCAGAGAGAGGTACTT	0.517000														42			21		0	0	0.002780	0	0
EML3	256364	broad.mit.edu	37	11	62376050	62376050	+	Silent	SNP	G	A	A	rs138198368		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62376050G>A	uc010rly.1	-	8	1382	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	EML3_uc001ntr.1_Silent_p.F330F|EML3_uc001nts.1_Silent_p.F330F|EML3_uc001ntt.1_Silent_p.F242F|EML3_uc001ntu.1_Silent_p.F358F|EML3_uc009yny.1_Silent_p.F141F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	358						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCCGCTCGAAGGCCCCCA	0.597000														96			110		0	0	0.003610	0	0
C6orf25	80739	broad.mit.edu	37	6	31691460	31691460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31691460G>A	uc011doc.2	+	1	146	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.G36R|C6orf25_uc003nwk.3_Missense_Mutation_p.G36R|C6orf25_uc011dod.2_Missense_Mutation_p.G36R|C6orf25_uc003nwn.3_Missense_Mutation_p.G36R|C6orf25_uc011doe.2_Missense_Mutation_p.G36R|C6orf25_uc003nwo.3_Missense_Mutation_p.G36R	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	36						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCTCTCCTGCGGAGGAGTCTC	0.667000														161			91		0	0	0.003610	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087043	39087043	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39087043G>A	uc011aej.1	-	2	470	c.417C>T	c.(415-417)ttC>ttT	p.F139F	KCNJ6_uc002ywo.2_Silent_p.F139F	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	139					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AAGCAGAGACGAACCCGTTGA	0.453000														76			18		0	0	0.002299	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181745324G>A	uc009wxt.3	+	37	5422	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1743K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1724K|CACNA1E_uc001gox.1_Missense_Mutation_p.E969K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1743	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000														136			29		0	0	0.007291	0	0
RAD54B	25788	broad.mit.edu	37	8	95390826	95390826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:95390826G>A	uc003ygk.3	-	12	2415	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	RAD54B_uc010may.2_Missense_Mutation_p.P578S	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATATGTACAGGATATTTCTGA	0.353000								Direct reversal of damage;Homologous recombination						24			11		0	0	0.002450	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440255	104440255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:104440255C>T	uc004elz.1	+	2	937	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	61	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R61C(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTTATATTCGTACCAACTA	0.473000														3			30		0	0	0.001786	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869154	22869154	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:22869154G>A	uc002zwe.3	-	1	1054	c.801C>T	c.(799-801)ccC>ccT	p.P267P	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.P267P	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCTTTCTTGGGATCAAAGG	0.433000														100			18		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812225	140812225	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140812225G>A	uc003lkt.2	+	0	2068	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.L633L	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	635	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)			GAGCCCTGCTGGACAGAGACG	0.692000														89			23		0	0	0.002299	0	0
MED13	9969	broad.mit.edu	37	17	60106997	60106997	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60106997A>G	uc002izo.3	-	7	1265	c.1188T>C	c.(1186-1188)gcT>gcC	p.A396A	MED13_uc002izp.3_Silent_p.A12A	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	396					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACCTGATGAAGCAGAATACT	0.338000														41			19		0	0	0.001523	0	0
OR2A25	392138	broad.mit.edu	37	7	143771784	143771784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143771784C>T	uc011ktx.2	+	0	472	c.472C>T	c.(472-474)Cat>Tat	p.H158Y		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGCCCTTGTCCATCTAGTGTT	0.453000														209			35		0	0	0.003271	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576726	149576726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149576726C>T	uc003wgr.3	+	3	1622	c.671C>T	c.(670-672)cCt>cTt	p.P224L	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.P201L|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GGGTCTTTCCCTTTACAGACG	0.632000														2			19		0	0	0.001216	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449737	42449737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42449737C>T	uc002igt.1	-	29	3147	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	1039					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CACCATCACTCCCCCTCTTCA	0.577000														32			14		0	0	0.006122	0	0
RRP7A	27341	broad.mit.edu	37	22	42912244	42912244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:42912244G>A	uc003bcp.3	-	0	678	c.184C>T	c.(184-186)Cct>Tct	p.P62S	RRP7A_uc003bcq.3_Intron	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	0	RRM.						RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCCGCTGAAGGACTCAGCCAC	0.632000														7			9		0	0	0.006214	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031024	52031024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52031024G>A	uc002pwy.3	-	6	1373	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P373S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P337S|SIGLEC6_uc010ydc.2_Intron|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	389					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.P389P(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACCATGACGGGGTTCACATCA	0.498000														66			71		0	0	0.003610	0	0
OR8I2	120586	broad.mit.edu	37	11	55860905	55860905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55860905G>A	uc010rix.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACTGTTTTGGGAAACCTGGGA	0.383000														71			102		0	0	0.003610	0	0
KLF17	128209	broad.mit.edu	37	1	44596314	44596314	+	Silent	SNP	C	T	T	rs139118447	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44596314C>T	uc001clp.3	+	2	1114	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	352					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCCGGGAGTTCATGAGGTCTG	0.512000														31			20		0	0	0.007413	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013374	142013374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142013374G>A	uc003vxg.3	+	1	258	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCTATAAATGAAAGTGTGCG	0.483000														22			184		0	0	0.003610	0	0
ZNF567	163081	broad.mit.edu	37	19	37210633	37210633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37210633C>T	uc010xtl.2	+	5	1229	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	ZNF567_uc002oeo.1_Missense_Mutation_p.S336L|ZNF567_uc010xtk.1_Missense_Mutation_p.S336L|ZNF567_uc002oep.4_Missense_Mutation_p.S305L|ZNF567_uc002oeq.1_Missense_Mutation_p.S305L	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAGAAATCGTATGAATGT	0.458000														11			22		0	0	0.001882	0	0
AHSP	51327	broad.mit.edu	37	16	31539877	31539877	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31539877G>A	uc002ecj.3	+	2	259	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	58					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGTGACAGGGGAGCCCCAAG	0.532000														22			37		0	0	0.005524	0	0
ZNF479	90827	broad.mit.edu	37	7	57194352	57194352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:57194352C>T	uc010kzo.3	-	2	384	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398000														109			31		0	0	0.006230	0	0
OR52M1	119772	broad.mit.edu	37	11	4566714	4566714	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4566714C>T	uc010qyf.2	+	0	294	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A98D(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTGGACGCCTGCTTGGGCC	0.517000														13			48		0	0	0.003610	0	0
KANSL2	54934	broad.mit.edu	37	12	49065687	49065687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49065687G>A	uc001rrz.2	-	3	1197	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C	KANSL2_uc001rrw.2_Missense_Mutation_p.R7C|KANSL2_uc001rrx.2_Missense_Mutation_p.R202C|KANSL2_uc001rry.2_Non-coding_Transcript	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	202																	GACTGCAAACGAATTAGCTTT	0.403000														202			188		0	0	0.003610	0	0
C15orf2	23742	broad.mit.edu	37	15	24922582	24922582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:24922582C>T	uc001ywo.3	+	0	2042	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	523	Pro-rich.				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)		TGTGTGGATTCCCCTCCTCCT	0.547000														100			98		0	0	0.003610	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552732	117552732	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117552732C>T	uc004bjh.3	-	3	872	c.756G>A	c.(754-756)taG>taA	p.*252*	TNFSF15_uc004bjg.3_Silent_p.*193*	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	0					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGCTCTCCTCCTATAGTAAGA	0.413000														38			23		0	0	0.002780	0	0
TECPR1	25851	broad.mit.edu	37	7	97874210	97874210	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97874210G>T	uc003upg.3	-	3	600	c.395C>A	c.(394-396)cCc>cAc	p.P132H	TECPR1_uc003uph.1_Missense_Mutation_p.P53H	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	132						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTCTCAGTGGGTTCACCTCC	0.642000														35			17		1.2644e-06	1.99596e-06	0.001523	1	0
PELO	53918	broad.mit.edu	37	5	52096729	52096729	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52096729C>T	uc003jos.3	+	1	1486	c.501C>T	c.(499-501)atC>atT	p.I167I	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	167					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGTGAACATCCCTAGGAAAA	0.567000														41			61		0	0	0.003610	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183700	58183700	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58183700G>A	uc003djo.1	-	5	649	c.552C>T	c.(550-552)ttC>ttT	p.F184F	DNASE1L3_uc011bfd.1_Silent_p.F154F|DNASE1L3_uc003djp.1_Silent_p.F184F|DNASE1L3_uc003djq.1_Silent_p.F184F	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	184					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CCATGAAAATGAAATTCTAAA	0.517000														24			12		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	107078526	107078526	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:107078526C>T	uc021ser.1	-	135		c.6148G>A								Parts of antibodies, mostly variable regions.																		TCCATCCTATCCACTCAAGGC	0.527000														13			44		0	0	0.002852	0	0
TRAF2	7186	broad.mit.edu	37	9	139820209	139820209	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139820209C>T	uc004cjv.3	+	10	1419	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	TRAF2_uc010nbu.3_Silent_p.S454S|TRAF2_uc011mek.2_Silent_p.S443S|TRAF2_uc010nbw.3_Silent_p.S429S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	454	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACTTCATCCTCTTTTCAGA	0.587000														35			22		0	0	0.004656	0	0
SCN9A	6335	broad.mit.edu	37	2	167168250	167168250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167168250G>A	uc010fpl.3	-	1	358	c.17C>T	c.(16-18)cCc>cTc	p.P6L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	6						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGTCCTGGGGGAGGCAACAT	0.403000														35			19		0	0	0.001882	0	0
FAM98B	283742	broad.mit.edu	37	15	38757496	38757496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38757496C>T	uc001zkc.3	+	2	279	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	FAM98B_uc001zkb.1_Missense_Mutation_p.L82F	NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	82						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAGCTTCCAGCTTGAGATAAG	0.308000														23			12		0	0	0.001855	0	0
ILDR2	387597	broad.mit.edu	37	1	166896415	166896415	+	Missense_Mutation	SNP	G	A	A	rs142876093	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:166896415G>A	uc001gdx.2	-	6	939	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	295						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAACCTTTGCGAACTGTTGAG	0.438000														77			25		0	0	0.006320	0	0
ZNF25	219749	broad.mit.edu	37	10	38241797	38241797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:38241797G>A	uc001ize.1	-	5	734	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ZNF25_uc001izf.1_Missense_Mutation_p.S174F	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CTGGTAGAAGGATTTTTCACA	0.388000														60			26		0	0	0.006320	0	0
ZNF366	167465	broad.mit.edu	37	5	71739929	71739929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71739929G>A	uc003kce.1	-	4	2075	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E629A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGGCTGTAGGGCTCCACCTC	0.677000														179			18		0	0	0.001882	0	0
COL15A1	1306	broad.mit.edu	37	9	101787237	101787237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101787237G>A	uc004azb.1	+	14	2142	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	646	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGACCCCCTGGATCTCCTGG	0.572000														27			11		0	0	0.001368	0	0
AX747261	0	broad.mit.edu	37	9	99884335	99884335	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:99884335G>A	uc004aww.1	-	1		c.1459C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		CTGGCTGGGAGGAGGGCCCAG	0.617000														6			5		0	0	0.001984	0	0
NBEA	26960	broad.mit.edu	37	13	36124641	36124641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:36124641G>A	uc021rid.1	+	41	7147	c.6613G>A	c.(6613-6615)Gga>Aga	p.G2205R	NBEA_uc021ric.1_Missense_Mutation_p.G2202R|NBEA_uc010abi.3_Missense_Mutation_p.G861R|NBEA_uc010tee.1_5'UTR|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_5'UTR|NBEA_uc010teg.1_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2205						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGACTTCACGGAAAATGGAT	0.373000														26			10		0	0	0.001368	0	0
ISM1	140862	broad.mit.edu	37	20	13280026	13280026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13280026C>T	uc010gce.1	+	5	1321	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	439	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGCCCGGCCTCCCAACAACGG	0.567000														38			16		0	0	0.004007	0	0
ARFIP1	27236	broad.mit.edu	37	4	153809445	153809445	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:153809445C>T	uc003imz.3	+	7	1228	c.952C>T	c.(952-954)Cta>Tta	p.L318L	ARFIP1_uc003inb.3_Silent_p.L286L|ARFIP1_uc003ina.3_Silent_p.L286L|ARFIP1_uc003inc.3_Silent_p.L318L|ARFIP1_uc011cij.2_Silent_p.L138L	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	318	AH.				intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATTGAAATTTCTAGAAGAAAA	0.348000														17			6		0	0	0.001168	0	0
SARS	6301	broad.mit.edu	37	1	109774338	109774338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109774338C>T	uc001dwu.2	+	5	777	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	226					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity	p.P226L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATTTATACCCCCTTTTTCATG	0.522000														327			180		0	0	0.003610	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623646	74623646	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74623646T>G	uc002jsh.3	-	2	1025	c.851A>C	c.(850-852)aAg>aCg	p.K284T	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.K152T|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	284					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGCTTTGATCTTCACAGAGTC	0.562000														52			50		0	0	0.003610	0	0
ABCA7	10347	broad.mit.edu	37	19	1056159	1056159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1056159C>T	uc002lqw.4	+	31	4564	c.4333C>T	c.(4333-4335)Ccc>Tcc	p.P1445S	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1445					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGAGTCCCCTGCCTGG	0.672000														27			14		0	0	0.001855	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590527	140590527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140590527C>T	uc003liz.3	+	0	2237	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	PCDHB12_uc011dak.2_Missense_Mutation_p.A346V|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	683					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCCAGGCCGACTCGCTC	0.706000														61			96		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308886	140308886	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140308886G>A	uc003lih.2	+	0	2585	c.2409G>A	c.(2407-2409)ggG>ggA	p.G803G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.G803G	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	849					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G802E(1)		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)			ATAGGAAAGGGGATCACGCTA	0.448000														24			86		0	0	0.003610	0	0
PCSK5	5125	broad.mit.edu	37	9	78953354	78953354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78953354C>T	uc004akc.2	+	33	5414	c.4876C>T	c.(4876-4878)Caa>Taa	p.Q1626*		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	791					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GACTTGTGATCAATGCAAAGG	0.473000														16			6		0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	41711233	41711234	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41711233_41711234CC>AT	uc002yyq.1	-	6	1771_1772	c.1319_1320GG>AT	c.(1318-1320)tgg>tAT	p.W440Y	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	440	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTCCAGGGTCCACGTGATCGT	0.540000														34			7		0	0	0.004672	0	0
SVEP1	79987	broad.mit.edu	37	9	113241924	113241924	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113241924C>T	uc010mtz.3	-	12	2815	c.2478G>A	c.(2476-2478)ctG>ctA	p.L826L	SVEP1_uc010mua.1_Silent_p.L826L|SVEP1_uc004beu.2_Silent_p.L826L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	826					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						CCATTTTTCCCAGGGTCGTCT	0.388000														118			68		0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35620782	35620782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:35620782G>A	uc002hnm.3	-	10	1215	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	ACACA_uc002hnk.3_Missense_Mutation_p.P264S|ACACA_uc002hnl.3_Missense_Mutation_p.P284S|ACACA_uc002hnn.3_Missense_Mutation_p.P342S|ACACA_uc002hno.3_Missense_Mutation_p.P379S|ACACA_uc010cuz.3_Missense_Mutation_p.P342S	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	342	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGAGATCCAGGAACTTCAGCT	0.363000														80			21		0	0	0.001523	0	0
TLL2	7093	broad.mit.edu	37	10	98155732	98155732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98155732G>A	uc001kml.2	-	11	1671	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	TLL2_uc009xvf.2_Missense_Mutation_p.S455F	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	477	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATAGTTGGGAGATTGAATCTG	0.498000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			27		0	0	0.007291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488714	37488714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37488714G>A	uc021ppc.1	+	29	2707	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E870K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	926						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGGGATTCTGAGGTACTATG	0.299000														13			6		0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	62149192	62149192	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:62149192C>T	uc001jky.3	-	0	443	c.105G>A	c.(103-105)cgG>cgA	p.R35R	ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	35					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTTTTCTTCCGATCCCGGG	0.398000														55			31		0	0	0.003271	0	0
COL4A5	1287	broad.mit.edu	37	X	107869489	107869489	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107869489A>C	uc022ccg.1	+	35	3358	c.3156A>C	c.(3154-3156)caA>caC	p.Q1052H	COL4A5_uc004enz.1_Missense_Mutation_p.Q1052H|COL4A5_uc004eob.1_Missense_Mutation_p.Q660H	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1052	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACAACCTGGCTCCC	0.458000									Alport syndrome with Diffuse Leiomyomatosis					12			31		0	0	0.002836	0	0
NUP85	79902	broad.mit.edu	37	17	73214293	73214293	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:73214293C>T	uc002jng.1	+	6	749	c.489C>T	c.(487-489)ctC>ctT	p.L163L	NUP85_uc010wrv.1_Silent_p.L117L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	163					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)			GCCCTCTCCTCCTCCATCTCC	0.522000														57			16		0	0	0.004007	0	0
X97876	0	broad.mit.edu	37	9	66499775	66499775	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:66499775C>T	uc004aee.1	+	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGGTGGCCATCGTGGTGCTGT	0.592000														65			5		0	0	0.001984	0	0
GALNTL2	117248	broad.mit.edu	37	3	16261495	16261495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16261495C>T	uc003car.4	+	7	2078	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	GALNTL2_uc003caq.4_Missense_Mutation_p.P268S|GALNTL2_uc003cas.4_Missense_Mutation_p.P65S	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	535	Ricin B-type lectin.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GGTGTTGGCTCCTTGCAGTGA	0.547000														64			78		0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34962641	34962641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34962641G>A	uc004ddi.2	+	0	1729	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	565										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGAAGTGATGAACCTTTGAT	0.478000														61			35		0	0	0.004289	0	0
TMEM145	284339	broad.mit.edu	37	19	42821907	42821907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42821907G>A	uc002otk.1	+	11	999	c.947G>A	c.(946-948)gGc>gAc	p.G316D		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	316						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCGCCGGCCGGCTACGGGCTC	0.577000														31			33		0	0	0.002096	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658673	43658673	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43658673A>C	uc001zrk.1	-	2	1004	c.857T>G	c.(856-858)cTc>cGc	p.L286R	ZSCAN29_uc001zrj.1_Missense_Mutation_p.L166R|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.L285R|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.L285R	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	286					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATATTCCCTGAGCCGCTCAGC	0.547000														52			19		0	0	0.001523	0	0
ITGAE	3682	broad.mit.edu	37	17	3661105	3661105	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:3661105C>T	uc002fwo.4	-	8	1014	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	305	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCACCATGACCTTGGATGCCT	0.532000														88			41		0	0	0.003214	0	0
CSMD2	114784	broad.mit.edu	37	1	34066529	34066529	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34066529G>A	uc001bxm.1	-	43	6969	c.6792C>T	c.(6790-6792)aaC>aaT	p.N2264N	CSMD2_uc001bxn.1_Silent_p.N2266N|CSMD2_uc001bxo.1_Silent_p.N1137N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2266	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGGACCTGGTTGGATGAAC	0.587000														56			27		0	0	0.007291	0	0
FAM151A	338094	broad.mit.edu	37	1	55089042	55089042	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55089042C>T	uc001cxn.3	-	0	159	c.27G>A	c.(25-27)aaG>aaA	p.K9K	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	9						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGACCTGATTCTTTGATAACT	0.602000														68			40		0	0	0.003610	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553298	140553298	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140553298C>T	uc003lit.3	+	0	1056	c.882C>T	c.(880-882)atC>atT	p.I294I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	294	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTTCAAATCAATCCAACAT	0.423000														79			15		0	0	0.002450	0	0
PREX1	57580	broad.mit.edu	37	20	47262529	47262529	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47262529G>A	uc002xtw.1	-	25	3395	c.3372C>T	c.(3370-3372)gcC>gcT	p.A1124A	PREX1_uc002xtv.1_Silent_p.A421A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1124					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGGGAGGAGGCCTCCTCAG	0.597000														42			42		0	0	0.002222	0	0
FAM183A	440585	broad.mit.edu	37	1	43613734	43613734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43613734C>T	uc009vwo.3	+	0	141	c.112C>T	c.(112-114)Cac>Tac	p.H38Y		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	Homo sapiens family with sequence similarity 183, member A (FAM183A), mRNA.	38										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CACGCAGTATCACGTGAATCC	0.612000														18			10		0	0	0.001368	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804439	14804439	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:14804439G>A	uc001rcd.3	-	14	1749	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	538	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TAGTCAATCTGAAGCAACTAG	0.398000														27			10		0	0	0.000978	0	0
MARCH10	162333	broad.mit.edu	37	17	60814508	60814508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60814508C>T	uc010dds.3	-	6	1120	c.835G>A	c.(835-837)Gga>Aga	p.G279R	MARCH10_uc010ddr.3_Missense_Mutation_p.G241R|MARCH10_uc002jag.4_Missense_Mutation_p.G241R|MARCH10_uc002jah.2_Missense_Mutation_p.G240R|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTATTTTTTCCTTGGAAGGCC	0.532000														72			56		0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80327831	80327831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:80327831C>T	uc003hlu.3	-	0	1542	c.1524G>A	c.(1522-1524)atG>atA	p.M508I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	508					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.V507I(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATTGACTTCATTACGGCTT	0.448000														45			24		0	0	0.007291	0	0
TMEM82	388595	broad.mit.edu	37	1	16069344	16069344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16069344C>T	uc001axc.3	+	1	241	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	35	Leu-rich.					integral to membrane		p.A34V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATCGGGGCCCTTGGAGTCTT	0.647000														6			6		0	0	0.001984	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813035	176813035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176813035G>A	uc003mgk.4	+	2	261	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	SLC34A1_uc021yis.1_Missense_Mutation_p.G53S	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	53					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCCCAGCCTGGGCCCTGTGGC	0.687000														68			13		0	0	0.002450	0	0
MYH3	4621	broad.mit.edu	37	17	10533018	10533018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10533018G>A	uc002gmq.2	-	39	5780	c.5692C>T	c.(5692-5694)Cga>Tga	p.R1898*		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1898					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGAGCCTTTCGGAATTTGGTG	0.527000														35			12		0	0	0.001368	0	0
THSD7B	80731	broad.mit.edu	37	2	138330034	138330034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:138330034G>A	uc002tva.1	+	15	3241	c.3241G>A	c.(3241-3243)Gat>Aat	p.D1081N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.D1083N(1)|p.D1114N(1)		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)		GTGCAACCAGGATGAAATTCC	0.453000														18			11		0	0	0.000673	0	0
RYR2	6262	broad.mit.edu	37	1	237995900	237995900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237995900C>T	uc001hyl.1	+	104	14977	c.14857C>T	c.(14857-14859)Cca>Tca	p.P4953S	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4953					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTTTCCCAGCAGGGGA	0.418000														42			16		0	0	0.006122	0	0
LONP2	83752	broad.mit.edu	37	16	48381495	48381495	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:48381495G>A	uc002efi.1	+	12	2105	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Silent_p.V628V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	672					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCATGTTCGTGGAGGCGAGTC	0.547000														16			31		0	0	0.003755	0	0
RORB	6096	broad.mit.edu	37	9	77282800	77282800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77282800C>T	uc004aji.3	+	7	1176	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	RORB_uc004ajh.3_Missense_Mutation_p.A365V	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	376	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCTCATCTGCTGTTCTGATA	0.398000														39			18		0	0	0.002299	0	0
ADCY8	114	broad.mit.edu	37	8	131964149	131964149	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131964149G>A	uc003ytd.4	-	2	1462	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADCY8_uc010mds.3_Silent_p.F402F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	402					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATCCGATGGAACTGGTGCT	0.527000										HNSCC(32;0.087)				35			17		0	0	0.004007	0	0
DOCK9	23348	broad.mit.edu	37	13	99515687	99515687	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:99515687G>A	uc001vnt.2	-	30	3460	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DOCK9_uc001vnw.2_Silent_p.I1134I|DOCK9_uc021rlw.1_Silent_p.I1134I|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.I1135I|DOCK9_uc010tis.1_Silent_p.I1134I|DOCK9_uc010tit.1_Silent_p.I1135I|DOCK9_uc010tiq.1_Silent_p.I113I|DOCK9_uc010afu.1_Silent_p.I981I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1135					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTGATGGCGATCAGACGGA	0.493000														53			23		0	0	0.006320	0	0
SYT10	341359	broad.mit.edu	37	12	33535403	33535403	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33535403C>T	uc001rll.1	-	4	1548	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	SYT10_uc009zju.1_Silent_p.R227R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	417	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.K416K(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)					TAGTTGTTTTCCTCTTTTTTA	0.368000														53			21		0	0	0.005443	0	0
SLC2A1	6513	broad.mit.edu	37	1	43393399	43393399	+	Silent	SNP	G	A	A	rs76860965		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43393399G>A	uc001cik.2	-	8	1680	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	385					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACCATGGGATGGGGCCAGGAC	0.552000														7			9		0	0	0.004482	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131337	52131337	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52131337C>T	uc002pxe.3	-	4	886	c.747G>A	c.(745-747)gaG>gaA	p.E249E		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	249	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTTGCAGGATCTCTAGGGCTT	0.602000														13			17		0	0	0.001216	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376886	18376886	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18376886C>T	uc010ebn.2	-	2	1680	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V	KIAA1683_uc002nin.2_Silent_p.V488V|KIAA1683_uc010xqe.1_Silent_p.V442V	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	488						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGGCTTGGTCACCCCAACTG	0.592000														45			24		0	0	0.006320	0	0
FBXO24	26261	broad.mit.edu	37	7	100193253	100193253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100193253G>A	uc011kjz.1	+	7	1312	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	FBXO24_uc003uvl.1_3'UTR|FBXO24_uc003uvm.1_Missense_Mutation_p.R377Q|FBXO24_uc003uvn.1_Missense_Mutation_p.R72Q|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.R365Q|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	377						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAATTTGGCCGAATCTTCATG	0.502000														11			116		0	0	0.003610	0	0
CAMK2A	815	broad.mit.edu	37	5	149602733	149602733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149602733G>A	uc003lru.2	-	16	1467	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	CAMK2A_uc003lrt.2_Missense_Mutation_p.H429Y	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	418					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGGATGTGGGGATTCAGG	0.652000														71			9		0	0	0.000978	0	0
RPTOR	57521	broad.mit.edu	37	17	78866666	78866666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78866666G>A	uc002jyt.1	+	18	3044	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	RPTOR_uc010wug.1_Missense_Mutation_p.E589K	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	747					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTGACAGAGGAATGTAAGAT	0.498000														78			57		0	0	0.003610	0	0
ADAM12	8038	broad.mit.edu	37	10	127731669	127731669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:127731669G>A	uc001ljk.2	-	17	2466	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	ADAM12_uc010qul.1_Missense_Mutation_p.P636S|ADAM12_uc001ljm.3_Missense_Mutation_p.P685S|ADAM12_uc001ljn.3_Missense_Mutation_p.P682S|ADAM12_uc001ljl.4_Missense_Mutation_p.P682S	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	685	EGF-like.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCACAGAAGGGAGGTGCCCAG	0.612000														19			19		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9076809	9076809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9076809C>T	uc002mkp.3	-	2	10841	c.10637G>A	c.(10636-10638)gGa>gAa	p.G3546E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3547	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M3545I(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						TGAGTTGGTTCCCATGGTGGT	0.542000														111			22		0	0	0.002780	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668309	176668309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176668309G>A	uc001gkz.3	+	7	3984	c.2820G>A	c.(2818-2820)atG>atA	p.M940I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	940					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.H939Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTACCACATGAACATGACGG	0.592000														73			18		0	0	0.001216	0	0
GEMIN6	79833	broad.mit.edu	37	2	39009027	39009027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:39009027C>T	uc002rrc.3	+	2	682	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GEMIN6_uc002rrb.3_Non-coding_Transcript	NM_024775	NP_079051	Q8WXD5	GEMI6_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6), mRNA.	166					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				CTTACAGCTTCCCAATGAGAG	0.383000														59			20		0	0	0.001523	0	0
AKAP3	10566	broad.mit.edu	37	12	4737890	4737890	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4737890G>T	uc001qnb.4	-	3	422	c.178C>A	c.(178-180)Cgg>Agg	p.R60R		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTTTGAACCGAACATCTTGG	0.502000														26			6		0.00116845	0.00183067	0.001168	1	0
KIRREL	55243	broad.mit.edu	37	1	158063217	158063217	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158063217C>T	uc001frn.4	+	11	1964	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	KIRREL_uc010pib.2_Silent_p.L420L|KIRREL_uc009wsq.3_Silent_p.L356L|KIRREL_uc001fro.4_Silent_p.L334L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	520						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TATTCTTCCTCTACCGGCGCC	0.602000														94			22		0	0	0.001882	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369101	37369101	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:37369101C>T	uc003cgv.3	+	13	6084	c.5724C>T	c.(5722-5724)tcC>tcT	p.S1908S	GOLGA4_uc010hgr.2_Silent_p.S1469S|GOLGA4_uc003cgw.3_Silent_p.S1930S|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.S1789S	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1908	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGAAAAGTCCAAATCACATT	0.393000														36			47		0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5225815	5225815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5225815G>A	uc002mbv.3	-	16	2651	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.S784F|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	806	Fibronectin type-III 5.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TACCGTGATGGAGTACGCGGT	0.647000														20			5		0	0	0.000602	0	0
ISLR	3671	broad.mit.edu	37	15	74468300	74468300	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:74468300G>A	uc002axg.1	+	1	1383	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	ISLR_uc002axh.1_Silent_p.K367K|ISLR_uc021sqf.1_Silent_p.K367K	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	367					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TTGAGGGAAAGGGCTGCTATA	0.622000														30			15		0	0	0.002450	0	0
OVOS2	0	broad.mit.edu	37	12	31269354	31269354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:31269354G>A	uc010sjy.1	-	28	3944	c.3944C>T	c.(3943-3945)tCt>tTt	p.S1315F	OVOS2_uc001rjy.3_Non-coding_Transcript|OVOS2_uc001rjz.3_Non-coding_Transcript					RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAAGGAAAGAGAAAATCCAGA	0.368000														72			31		0	0	0.003755	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816342	23816342	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23816342G>A	uc001wjl.3	-	7	1533	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	SLC22A17_uc010akk.3_Silent_p.L196L|SLC22A17_uc001wjm.3_Silent_p.L414L|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	432					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.T431T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCAGCAAGGAGGGTGCTGA	0.657000														25			7		0	0	0.003080	0	0
FOXD4	2298	broad.mit.edu	37	9	117682	117682	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117682G>A	uc003zfz.3	-	0	736	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTGCCAGGCGGGGAACTTGC	0.642000														77			35		0	0	0.003214	0	0
NF1	4763	broad.mit.edu	37	17	29548867	29548867	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:29548867G>A	uc002hgg.3	+	15	2025	c.1642_splice	c.e15-1	p.A548_splice	NF1_uc002hgf.2_Splice_Site_p.A548_splice|NF1_uc002hgh.3_Splice_Site_p.A548_splice|NF1_uc010csn.2_Splice_Site_p.A408_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	548					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAAATTCAGGCTCTGCTGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				35			7		0	0	0.003080	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032313	10032313	+	Silent	SNP	G	A	A	rs113636131		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:10032313G>A	uc010uym.2	-	3	820	c.510C>T	c.(508-510)ttC>ttT	p.F170F	GRIN2A_uc002czo.4_Silent_p.F170F|GRIN2A_uc010uyn.2_Silent_p.F13F|GRIN2A_uc002czr.4_Silent_p.F170F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	170					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)	TCACCAGGGAGAAGACATGCC	0.527000														47			13		0	0	0.001855	0	0
CCDC68	80323	broad.mit.edu	37	18	52608269	52608269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:52608269C>T	uc002lfs.3	-	3	335	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC68_uc002lft.3_Missense_Mutation_p.E55K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	55										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGTCTTATTTCATCTTTAAAC	0.323000														40			10		0	0	0.000673	0	0
DNAH3	55567	broad.mit.edu	37	16	20959854	20959854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20959854G>A	uc010vbe.2	-	56	11294	c.11294C>T	c.(11293-11295)tCc>tTc	p.S3765F	DNAH3_uc010vbd.2_Missense_Mutation_p.S1200F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3765					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)		AGGAGCGAGGGAGTAATAGTC	0.537000														34			4		0	0	0.000602	0	0
ABCA9	10350	broad.mit.edu	37	17	67012496	67012496	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:67012496C>T	uc002jhu.3	-	21	3080	c.2937G>A	c.(2935-2937)cgG>cgA	p.R979R	ABCA9_uc010dez.3_Silent_p.R979R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	979					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGCAATTCAGCCGTTTTGTAT	0.353000														55			49		0	0	0.003610	0	0
SEPT12	124404	broad.mit.edu	37	16	4833664	4833664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4833664C>T	uc002cxq.3	-	5	880	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SEPT12_uc002cxr.3_Missense_Mutation_p.A160T|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	206					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGCCTGAAGGCCTCTCGCTCC	0.677000														29			22		0	0	0.003954	0	0
GCOM1	145781	broad.mit.edu	37	15	58006751	58006751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:58006751C>T	uc002aeo.3	+	12	1453	c.1322C>T	c.(1321-1323)tCg>tTg	p.S441L	GCOM1_uc002aem.3_Silent_p.L509L|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aes.3_Silent_p.L96L|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.L327L|GCOM1_uc002aeu.4_Silent_p.L170L	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 2, mRNA.	49					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGCAAAGCTCGCAGCGCAAA	0.398000														58			38		0	0	0.006230	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887528	131887528	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:131887528G>A	uc003vra.4	-	11	2692	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	821	PSI 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						AGCCACATGCGAAGTCTGGGT	0.637000														4			28		0	0	0.007291	0	0
ZNF793	390927	broad.mit.edu	37	19	38028479	38028479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38028479G>A	uc010efm.3	+	7	1361	c.919G>A	c.(919-921)Gga>Aga	p.G307R	ZNF793_uc010xts.2_Missense_Mutation_p.G307R	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G307R(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACACACACAGGAGAGAGACC	0.458000														29			7		0	0	0.001984	0	0
POSTN	10631	broad.mit.edu	37	13	38171377	38171377	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38171377C>T	uc001uwo.4	-	1	280	c.162G>A	c.(160-162)aaG>aaA	p.K54K	POSTN_uc001uwp.4_Silent_p.K54K|POSTN_uc001uwr.3_Silent_p.K54K|POSTN_uc001uwq.3_Silent_p.K54K|POSTN_uc010teu.1_Silent_p.K54K|POSTN_uc010tev.1_Silent_p.K54K|POSTN_uc010tew.1_Silent_p.K54K|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	54	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAGTATTTCTTTTTGGTGC	0.353000														20			8		0	0	0.006214	0	0
NGLY1	55768	broad.mit.edu	37	3	25781208	25781209	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:25781208_25781209GT>AA	uc003cdl.3	-	4	848_849	c.740_741AC>TT	c.(739-741)aac>aTT	p.N247I	NGLY1_uc010hfg.3_Missense_Mutation_p.N247I|NGLY1_uc003cdm.3_Missense_Mutation_p.N247I|NGLY1_uc011awo.2_Missense_Mutation_p.N205I|NGLY1_uc003cdk.3_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	247					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGCACAAAACGTTATTCACCCA	0.416000														54			46		0	0	0.004672	0	0
TBX18	9096	broad.mit.edu	37	6	85446677	85446677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:85446677G>A	uc003pkl.1	-	7	1550	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	517					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S517F(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGTATTATAGGAACCCTGATG	0.478000														68			37		0	0	0.007835	0	0
KCNT2	343450	broad.mit.edu	37	1	196309666	196309666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196309666C>T	uc001gtd.1	-	15	1648	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D480N|KCNT2_uc001gtf.1_Missense_Mutation_p.D530N|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.D530N|KCNT2_uc001gth.1_Missense_Mutation_p.D51N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	530	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTTATTATCCTCCCTCCTA	0.303000														14			26		0	0	0.005443	0	0
CASZ1	54897	broad.mit.edu	37	1	10718634	10718634	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:10718634C>T	uc001aro.3	-	7	1661	c.1341_splice	c.e7-1	p.K447_splice	CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Intron	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGTCCGTTCCTGGCAAGAGA	0.607000														15			5		0	0	0.000602	0	0
COL28A1	340267	broad.mit.edu	37	7	7571422	7571422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:7571422G>A	uc003src.1	-	2	355	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	80	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGAGTCAATTGGAAAATCTTG	0.413000														114			14		0	0	0.004990	0	0
SENP2	59343	broad.mit.edu	37	3	185316753	185316753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185316753C>T	uc003fpn.3	+	3	470	c.299C>T	c.(298-300)tCg>tTg	p.S100L	SENP2_uc011brv.2_Missense_Mutation_p.S90L|SENP2_uc011brw.2_Intron	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	100					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGGTATTTTCGAACTCTTCA	0.363000														167			193		0	0	0.003610	0	0
UROC1	131669	broad.mit.edu	37	3	126229580	126229580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126229580G>A	uc010hsi.2	-	1	238	c.184C>T	c.(184-186)Cca>Tca	p.P62S	UROC1_uc003eiz.2_Missense_Mutation_p.P62S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	62					histidine catabolic process	cytosol	urocanate hydratase activity	p.A61S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCAAACTCTGGGGCCAGCAGC	0.607000														23			9		0	0	0.006214	0	0
TIAM1	7074	broad.mit.edu	37	21	32639059	32639059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:32639059G>A	uc002yow.1	-	4	702	c.230C>T	c.(229-231)tCc>tTc	p.S77F	TIAM1_uc011adk.1_Missense_Mutation_p.S77F|TIAM1_uc011adl.1_Missense_Mutation_p.S77F|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	77					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCATCTTGGGAGAAGGGCTC	0.592000														22			15		0	0	0.002450	0	0
OSTalpha	200931	broad.mit.edu	37	3	195944803	195944803	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:195944803G>A	uc003fwd.3	+	1	330	c.129G>A	c.(127-129)ctG>ctA	p.L43L	OSTalpha_uc011btu.1_Silent_p.L43L	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	43						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		CCCAACTCCTGAGAGGTGAGT	0.617000														14			4		0	0	0.000248	0	0
ZNF300	91975	broad.mit.edu	37	5	150275551	150275551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150275551G>A	uc021yfx.1	-	6	1726	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	ZNF300_uc021yfy.1_Missense_Mutation_p.A417V|ZNF300_uc021yfz.1_Missense_Mutation_p.A381V	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G433V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACAGAAGGCTTTCCCACA	0.463000														20			35		0	0	0.003271	0	0
TRHDE	29953	broad.mit.edu	37	12	73012702	73012702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:73012702G>A	uc001sxa.3	+	12	2248	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	740					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						TATTCCTCTGGAGATTATCAG	0.388000														60			89		0	0	0.003610	0	0
ADAM23	8745	broad.mit.edu	37	2	207460812	207460812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:207460812C>T	uc002vbq.3	+	23	2508	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	ADAM23_uc010ziv.2_Intron	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	762	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.F761F(1)		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)		TGTGATTTCACCTGGGCAGGG	0.423000														19			13		0	0	0.004990	0	0
ZNF474	133923	broad.mit.edu	37	5	121488171	121488171	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121488171G>A	uc003ksv.3	+	1	862	c.486G>A	c.(484-486)caG>caA	p.Q162Q	ZNF474_uc021ycy.1_Silent_p.Q162Q	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	162						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGAGTGCCCAGGCTCAGCTGC	0.547000														35			16		0	0	0.001523	0	0
BMX	660	broad.mit.edu	37	X	15534347	15534347	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:15534347G>A	uc004cww.3	+	4	626	c.438G>A	c.(436-438)tgG>tgA	p.W146*	BMX_uc004cwx.4_Nonsense_Mutation_p.W146*|BMX_uc004cwy.4_Nonsense_Mutation_p.W146*	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	146					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GTACCCTCTGGGAAGCATGTA	0.537000														14			71		0	0	0.003610	0	0
OR2T2	401992	broad.mit.edu	37	1	248616175	248616175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248616175G>A	uc001iek.1	+	0	77	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G26W(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTCCCCGGGCTTCTCTTT	0.542000														278			31		0	0	0.004878	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616170	140616170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140616170C>T	uc003ljc.1	+	0	2233	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTCCCAGGCCCAGGCCGACTC	0.692000														102			18		0	0	0.007413	0	0
A2ML1	144568	broad.mit.edu	37	12	9008104	9008104	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:9008104G>A	uc001quz.4	+	23	2863	c.2765_splice	c.e23-1	p.G922_splice	A2ML1_uc001qva.1_Splice_Site_p.G502_splice|A2ML1_uc010sgm.2_Splice_Site_p.G422_splice	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	766						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCATCTCACAGGAAAGGTGGC	0.443000														55			12		0	0	0.002450	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657494	72657494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72657494C>T	uc003txs.1	-	12	2418	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ttctggtattcccaccttgtc	0.507000														175			83		0	0	0.003610	0	0
BEST3	144453	broad.mit.edu	37	12	70048913	70048913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70048913C>T	uc001svg.3	-	9	2008	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.G381E|BEST3_uc010stm.2_Missense_Mutation_p.G488E	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	594						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCCCAGGAATCCCGGAAGACT	0.507000														30			120		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158590154	158590154	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158590154G>A	uc001fst.1	-	43	6422	c.6223C>T	c.(6223-6225)Ctg>Ttg	p.L2075L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2075					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTCATTCAGGGAGACACAG	0.483000														27			19		0	0	0.001216	0	0
ACPP	55	broad.mit.edu	37	3	132071617	132071617	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:132071617C>T	uc010htp.2	+	8	1008	c.918C>T	c.(916-918)ctC>ctT	p.L306L	ACPP_uc003eon.3_Silent_p.L273L|ACPP_uc003eop.4_Silent_p.L306L	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	306						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACAACGGACTCCTTCCTCCCT	0.433000														42			30		0	0	0.003271	0	0
TAP2	6891	broad.mit.edu	37	6	32782291	32782291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32782291G>A	uc011dqf.1	-	13	2392	c.2270C>T	c.(2269-2271)cCa>cTa	p.P757L	TAP2_uc003oca.3_Missense_Mutation_p.P150L|TAP2_uc011dqg.1_Missense_Mutation_p.P150L	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GATATCCCCTGGATAGAAGCC	0.547000														223			38		0	0	0.004878	0	0
SLTM	79811	broad.mit.edu	37	15	59179506	59179506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59179506G>A	uc002afp.3	-	17	2697	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	SLTM_uc002afn.3_Missense_Mutation_p.P412L|SLTM_uc002afo.3_Missense_Mutation_p.P852L|SLTM_uc002afq.3_Missense_Mutation_p.P439L|SLTM_uc010bgd.3_Missense_Mutation_p.P439L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	870	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCCTCTCGAGGATGTCTAGG	0.498000														171			25		0	0	0.003330	0	0
ITGAL	3683	broad.mit.edu	37	16	30522201	30522201	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30522201G>A	uc002dyi.4	+	23	2796	c.2620_splice	c.e23-1	p.V874_splice	ITGAL_uc002dyj.4_Splice_Site_p.V790_splice|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	874					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTTCCTGCCAGGTTGCTCTGC	0.542000														22			31		0	0	0.004878	0	0
SETDB2	83852	broad.mit.edu	37	13	50042072	50042072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:50042072C>T	uc001vcz.3	+	5	1223	c.317C>T	c.(316-318)tCc>tTc	p.S106F	SETDB2_uc010adg.2_Missense_Mutation_p.S82F|SETDB2_uc010adh.2_Missense_Mutation_p.S94F|SETDB2_uc001vda.3_Missense_Mutation_p.S94F|SETDB2_uc021rjn.1_Missense_Mutation_p.S23F	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	106					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGAAAACTCCTTTCCAGAA	0.328000														20			4		0	0	0.000248	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483008	54483008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:54483008G>A	uc002rxr.2	-	0	402	c.281C>T	c.(280-282)cCc>cTc	p.P94L	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	94					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCCCTCCGCGGGTGGTGGAGT	0.617000														33			10		0	0	0.006214	0	0
VILL	50853	broad.mit.edu	37	3	38048127	38048127	+	Missense_Mutation	SNP	G	T	T	rs147292695		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38048127G>T	uc003chj.3	+	18	2679	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L	VILL_uc003chl.3_Missense_Mutation_p.R798L	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	798	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGCCTGCGCCGGGAACAACTG	0.657000														49			5		0.000602214	0.000945176	0.000602	1	0
COL18A1	80781	broad.mit.edu	37	21	46888697	46888697	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:46888697C>T	uc002zhi.3	+	1	1209	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	COL18A1_uc002zhg.3_Silent_p.F216F	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	631	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGACAAGTTCCAGGTAACCC	0.697000														5			5		0	0	0.001168	0	0
TEX10	54881	broad.mit.edu	37	9	103088589	103088589	+	Silent	SNP	G	A	A	rs150703426		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:103088589G>A	uc004bas.3	-	8	2189	c.1974C>T	c.(1972-1974)caC>caT	p.H658H	TEX10_uc011lvf.2_Silent_p.H497H|TEX10_uc011lvg.2_Silent_p.H661H	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	658						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCTACCTCATGTGCAGTATCC	0.428000														17			11		0	0	0.001368	0	0
CHRM2	1129	broad.mit.edu	37	7	136700260	136700260	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700260G>A	uc003vtf.1	+	3	1271	c.648G>A	c.(646-648)agG>agA	p.R216R	CHRM2_uc003vtg.1_Silent_p.R216R|CHRM2_uc003vti.1_Silent_p.R216R|CHRM2_uc003vtm.1_Silent_p.R216R|CHRM2_uc003vtj.1_Silent_p.R216R|CHRM2_uc003vtk.1_Silent_p.R216R|CHRM2_uc003vtl.1_Silent_p.R216R|CHRM2_uc003vtn.1_Silent_p.R216R|CHRM2_uc003vto.1_Silent_p.R216R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.R216R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	216					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCAAGAGCAGGATAAAGAAGG	0.478000														4			44		0	0	0.001951	0	0
LRCH4	4034	broad.mit.edu	37	7	100179430	100179430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100179430G>A	uc003uvj.3	-	3	621	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	190					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTCCTCCGGACATTGAGG	0.582000														69			32		0	0	0.002836	0	0
LRP1B	53353	broad.mit.edu	37	2	141128357	141128357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141128357G>A	uc002tvj.1	-	70	11902	c.10930C>T	c.(10930-10932)Cac>Tac	p.H3644Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3644	LDL-receptor class A 29.				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)		GGAATACAGTGGGCTTTATTT	0.388000										TSP Lung(27;0.18)				48			63		0	0	0.003610	0	0
CRLF1	9244	broad.mit.edu	37	19	18707840	18707840	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18707840G>A	uc010ebt.2	-	4	911	c.717C>T	c.(715-717)ccC>ccT	p.P239P		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	239	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTGCACGTCGGGCGGGGGGT	0.672000														17			12		0	0	0.001368	0	0
ANO10	55129	broad.mit.edu	37	3	43618494	43618494	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:43618494G>A	uc003cmv.3	-	5	1023	c.852C>T	c.(850-852)ccC>ccT	p.P284P	ANO10_uc011azs.2_Silent_p.P284P|ANO10_uc003cmw.3_Silent_p.P218P|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Silent_p.P173P	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	284					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATCCTGGCCGGGGCTCCTCAA	0.532000														38			20		0	0	0.001882	0	0
LGSN	51557	broad.mit.edu	37	6	63990162	63990162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:63990162G>A	uc003peh.3	-	3	1328	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	432					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTACTGCTATGAAGTCCATCT	0.483000														106			13		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	89949562	89949562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:89949562G>A	uc003kju.3	+	19	4267	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1391					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E1391K(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAAACAAACGAATCCCATGT	0.393000														4			19		0	0	0.007413	0	0
NFIX	4784	broad.mit.edu	37	19	13201181	13201181	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13201181C>T	uc010xmx.2	+	9	1548	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	NFIX_uc002mwd.3_Silent_p.F441F|NFIX_uc002mwe.3_Silent_p.F433F|NFIX_uc002mwf.3_Silent_p.F403F|NFIX_uc002mwg.2_Silent_p.F440F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	491					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGGCAACTTTCTGAACATCCC	0.622000														85			23		0	0	0.001512	0	0
CTNNA1	1495	broad.mit.edu	37	5	138163391	138163391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:138163391C>T	uc003ldh.3	+	6	1141	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	CTNNA1_uc011cyx.2_Missense_Mutation_p.S246L|CTNNA1_uc011cyy.2_Missense_Mutation_p.S226L|CTNNA1_uc003ldi.3_Missense_Mutation_p.S47L|CTNNA1_uc003ldj.3_Missense_Mutation_p.S349L	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	349	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACCTGCTTTCGGAGTACATG	0.488000														64			20		0	0	0.002299	0	0
RREB1	6239	broad.mit.edu	37	6	7230453	7230453	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7230453C>T	uc003mxb.3	+	9	2613	c.2121C>T	c.(2119-2121)ccC>ccT	p.P707P	RREB1_uc021yky.1_Silent_p.P707P|RREB1_uc003mxc.3_Silent_p.P707P|RREB1_uc010jnx.3_Silent_p.P707P|RREB1_uc021ykz.1_Silent_p.P707P|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	707					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCACTACCCCTTCACTGTCA	0.597000														39			44		0	0	0.003610	0	0
LPL	4023	broad.mit.edu	37	8	19811737	19811737	+	Silent	SNP	C	T	T	rs140457997		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:19811737C>T	uc003wzk.4	+	4	1018	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	216					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCAGAGGGTCCCCTGGTCGAA	0.478000														13			29		0	0	0.001512	0	0
OR7D4	125958	broad.mit.edu	37	19	9325456	9325456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9325456C>T	uc002mla.2	-	0	92	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTTCAGGATCATCTGAGAGT	0.507000														40			32		0	0	0.003271	0	0
COL7A1	1294	broad.mit.edu	37	3	48627128	48627128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48627128C>T	uc003ctz.2	-	15	2075	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	692	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACATGGACCGTCCTCACT	0.602000														25			37		0	0	0.002222	0	0
PION	54103	broad.mit.edu	37	7	76943801	76943801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:76943801G>A	uc003ugf.3	-	26	2174	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	PION_uc011kgo.2_Missense_Mutation_p.H20Y|PION_uc003ugd.3_Missense_Mutation_p.H93Y	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	699					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAGAGTATGAAAACCTAGG	0.483000														9			103		0	0	0.003610	0	0
ZNF608	57507	broad.mit.edu	37	5	123983241	123983241	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:123983241C>A	uc003ktq.1	-	3	3019	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A946S|ZNF608_uc003ktt.1_Missense_Mutation_p.A946S|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	946	Ser-rich.					intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCATCGTCAGCAGCATCAGAT	0.507000														12			47		6.17242e-35	9.83763e-35	0.003610	1	0
ADAM21	8747	broad.mit.edu	37	14	70924528	70924528	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:70924528C>T	uc021rvq.1	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ADAM21_uc001xmd.3_Silent_p.F104F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	104					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATCAGCTCTTCATCCCAGATG	0.478000														32			5		0	0	0.001168	0	0
SYNE1	23345	broad.mit.edu	37	6	152690746	152690746	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152690746G>A	uc021zhb.1	-	57	9734	c.9511C>T	c.(9511-9513)Cta>Tta	p.L3171L	SYNE1_uc003qot.4_Silent_p.L3178L|SYNE1_uc003qou.4_Silent_p.L3171L|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Silent_p.L249L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3171					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATCTTTAGATTCTGCAAG	0.438000										HNSCC(10;0.0054)				7			17		0	0	0.004990	0	0
C2orf71	388939	broad.mit.edu	37	2	29295648	29295648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29295648C>T	uc002rmt.2	-	0	1480	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	494					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTTTGTCTTCCTCCTCCTCC	0.537000														51			72		0	0	0.003610	0	0
SPG7	6687	broad.mit.edu	37	16	89619491	89619491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89619491G>A	uc002fnj.3	+	13	1905	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_Missense_Mutation_p.M37I	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	628					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGATGTGCATGGCCCTGGGAG	0.622000														13			10		0	0	0.000978	0	0
RCC1	1104	broad.mit.edu	37	1	28861846	28861846	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:28861846C>T	uc001bqb.2	+	8	1014	c.615C>T	c.(613-615)ggC>ggT	p.G205G	RCC1_uc001bqa.2_Silent_p.G205G|RCC1_uc001bqc.2_Silent_p.G205G|RCC1_uc001bqe.2_Silent_p.G222G|RCC1_uc001bqf.2_Silent_p.G236G|RCC1_uc001bqg.2_Silent_p.G205G	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	205					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCTAGGCCGTGTGCCTG	0.587000														24			16		0	0	0.006122	0	0
T	6862	broad.mit.edu	37	6	166571986	166571986	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:166571986G>A	uc003qut.1	-	7	1414	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	T_uc003quu.1_Silent_p.F375F|T_uc003quv.1_Silent_p.F317F	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	375					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCCCCGGAAGAACTGGGCCC	0.701000									Chordoma, Familial Clustering of					1			20		0	0	0.007413	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255975	15255975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15255975C>T	uc001iob.3	-	7	1619	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	538						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCATACATTCAGTGGGTCTG	0.552000														54			40		0	0	0.003610	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499425	31499425	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31499425G>T	uc002ecf.4	+	7	971	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	318					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CATCCTGTGTGGGTACCTGAA	0.632000														122			6		8.12818e-05	0.000127828	0.001984	1	0
FMO2	2327	broad.mit.edu	37	1	171162577	171162577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:171162577C>T	uc001ghk.1	+	2	353	c.236C>T	c.(235-237)cCa>cTa	p.P79L	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	79					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)					GAAGATTTTCCAAACTTCCTG	0.353000														62			20		0	0	0.001523	0	0
OR6C1	390321	broad.mit.edu	37	12	55714535	55714535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55714535C>T	uc010spi.2	+	0	152	c.152C>T	c.(151-153)tCc>tTc	p.S51F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGCTGGATTCCCACCTGCAG	0.428000														19			99		0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31317540C>T	uc003jhe.2	+	9	1931	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_uc003jhd.2_Missense_Mutation_p.S524L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000														26			48		0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51175758	51175758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:51175758C>T	uc021tif.1	-	1	406	c.84G>A	c.(82-84)atG>atA	p.M28I	SALL1_uc021tid.1_Missense_Mutation_p.M28I|SALL1_uc021tie.1_Missense_Mutation_p.M125I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	125					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T28K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCCACCTCCATGGACTCTT	0.542000														11			14		0	0	0.003163	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183228	200183228	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200183228G>A	uc009wzi.1	+	0	573	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	179					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CCCTGCTGCGGGACAGCTACC	0.642000														37			10		0	0	0.006214	0	0
HYAL4	23553	broad.mit.edu	37	7	123509273	123509273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:123509273C>T	uc003vlc.3	+	2	1584	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	HYAL4_uc011knz.2_Missense_Mutation_p.L316F	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	316					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTATTTTTCCTTTCTAAGGT	0.383000														23			11		0	0	0.001368	0	0
PIGQ	9091	broad.mit.edu	37	16	624464	624464	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:624464C>T	uc002cho.3	+	1	528	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PIGQ_uc010bqw.3_Silent_p.F130F|PIGQ_uc002chm.3_Silent_p.F130F|PIGQ_uc002chn.3_Silent_p.F130F|PIGQ_uc010uui.2_Silent_p.F144F	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	130					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCTCATCTTCTATGACCAGC	0.697000														12			3		0	0	0.004672	0	0
TMEM57	55219	broad.mit.edu	37	1	25824876	25824876	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:25824876C>T	uc001bkk.3	+	10	2116	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	TMEM57_uc009vru.3_Silent_p.P411P|TMEM57_uc009vrv.3_Silent_p.P280P	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	638						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.P638L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTTCCCCCCACTACTCTT	0.537000														39			34		0	0	0.003271	0	0
XDH	7498	broad.mit.edu	37	2	31572598	31572598	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:31572598T>C	uc002rnv.1	-	25	3002	c.2923A>G	c.(2923-2925)Agc>Ggc	p.S975G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	975					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TACTGAGAGCTTGCTAGGCAT	0.483000														79			35		0	0	0.004878	0	0
SH3TC2	79628	broad.mit.edu	37	5	148408018	148408018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148408018C>T	uc003lpu.3	-	10	1429	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.S70N|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.S419N|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.S311N	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	426							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCAGGCTGGAGTCCTC	0.622000														74			8		0	0	0.003080	0	0
LTA	4049	broad.mit.edu	37	6	31541214	31541214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31541214C>T	uc011dnu.1	+	3	575	c.362C>T	c.(361-363)tCt>tTt	p.S121F	LTA_uc003nue.1_Missense_Mutation_p.S121F|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Intron|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	121					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AAAGCCTACTCTCCCAAGGCC	0.572000														64			93		0	0	0.003610	0	0
HAS1	3036	broad.mit.edu	37	19	52222579	52222579	+	Silent	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52222579C>G	uc002pxn.1	-	0	616	c.603G>C	c.(601-603)ctG>ctC	p.L201L	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.L159L|HAS1_uc002pxo.1_Silent_p.L194L|HAS1_uc002pxp.1_Silent_p.L193L	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	194					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTCCACTGCCAGCCGCCCAG	0.721000														11			4		0	0	0.000248	0	0
PVRL1	5818	broad.mit.edu	37	11	119545890	119545890	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:119545890G>A	uc001pwv.3	-	4	1154	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PVRL1_uc001pwu.1_Nonsense_Mutation_p.Q328*|PVRL1_uc001pww.3_Nonsense_Mutation_p.Q328*	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	328	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		ACCTCCACCTGGCCTGAGCGT	0.592000														4			7		0	0	0.001984	0	0
CD96	10225	broad.mit.edu	37	3	111296348	111296348	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:111296348G>A	uc003dxw.3	+	4	714	c.544_splice	c.e4-1	p.E182_splice	CD96_uc003dxv.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	182	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCTTCCTTAGGAAAACAGCA	0.423000									Opitz Trigonocephaly syndrome					124			42		0	0	0.003610	0	0
OR6C2	341416	broad.mit.edu	37	12	55846726	55846726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55846726G>A	uc001sgz.1	+	0	729	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CATCCCACATGATTGTGGTTT	0.403000														278			29		0	0	0.007291	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790621	137790621	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137790621G>A	uc003erq.3	-	11	1842	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	DZIP1L_uc003err.1_Silent_p.V493V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	493						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTCCCGCTGGACTCTCAGCA	0.517000														160			74		0	0	0.003610	0	0
ARMC8	25852	broad.mit.edu	37	3	137991881	137991881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137991881C>T	uc003esa.1	+	17	1877	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.R487W|ARMC8_uc011bmg.1_Missense_Mutation_p.R451W|ARMC8_uc011bmh.1_Missense_Mutation_p.R445W|ARMC8_uc003esb.1_Missense_Mutation_p.R476W|ARMC8_uc003esc.1_Missense_Mutation_p.R276W|ARMC8_uc003esf.1_Missense_Mutation_p.R87W	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	518							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAGCTATTCCGGTTATTATC	0.373000														409			183		0	0	0.003610	0	0
LYST	1130	broad.mit.edu	37	1	235973358	235973358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235973358G>A	uc001hxj.2	-	4	935	c.760C>T	c.(760-762)Cca>Tca	p.P254S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.P254S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	254					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGTCAAATGGAGAATTGTTC	0.363000														69			27		0	0	0.005443	0	0
OGDH	4967	broad.mit.edu	37	7	44684995	44684995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44684995C>T	uc003tln.3	+	2	451	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	OGDH_uc003tlm.3_Missense_Mutation_p.P98S|OGDH_uc011kbx.2_Missense_Mutation_p.P98S|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Missense_Mutation_p.P98S|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GAGTCCCCTTCCCCTGAGCCG	0.587000														139			62		0	0	0.003610	0	0
GSDMA	284110	broad.mit.edu	37	17	38130526	38130526	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38130526G>A	uc002htl.1	+	9	870	c.752_splice	c.e9-1	p.G251_splice	GSDMA_uc002htm.1_Splice_Site_p.G251_splice	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	251					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GTCCCCATAGGGGACGTACAC	0.557000														15			4		0	0	0.003080	0	0
KCNT1	57582	broad.mit.edu	37	9	138670594	138670594	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:138670594G>A	uc011mdq.2	+	22	2729	c.2655G>A	c.(2653-2655)aaG>aaA	p.K885K	KCNT1_uc011mdr.2_Silent_p.K712K|KCNT1_uc010nbf.3_Silent_p.K840K|KCNT1_uc004cgo.1_Silent_p.K634K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	885						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGGTGGACAAGGAGAGCACCA	0.652000														33			11		0	0	0.000673	0	0
MBD5	55777	broad.mit.edu	37	2	149226450	149226450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:149226450C>T	uc002twm.4	+	8	1935	c.938C>T	c.(937-939)cCa>cTa	p.P313L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	313						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGAAAAAACCAATGTGTAAT	0.453000														30			11		0	0	0.000978	0	0
PTCH2	8643	broad.mit.edu	37	1	45295074	45295074	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:45295074C>T	uc010olf.2	-	9	1227	c.1215_splice	c.e9+1	p.M405_splice	PTCH2_uc021omv.1_Splice_Site_p.M405_splice|PTCH2_uc010olg.2_Splice_Site_p.M104_splice	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	405	SSD.				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)					CAAGACCCACCATGAGCAGAT	0.632000									Basal Cell Nevus syndrome					33			13		0	0	0.001855	0	0
SSX8	280659	broad.mit.edu	37	X	52654594	52654594	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:52654594G>A	uc011moa.1	+	2		c.396G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		GAAAGAGTGGGAAAAGATGAA	0.383000														24			5		0	0	0.000602	0	0
COL27A1	85301	broad.mit.edu	37	9	117062944	117062944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117062944C>T	uc011lxl.2	+	50	4678	c.4678C>T	c.(4678-4680)Cct>Tct	p.P1560S	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1560	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATCCAGGGCCCTCGGGGGCC	0.622000														12			6		0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152861132	152861132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152861132C>T	uc021zhb.1	-	1	315	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SYNE1_uc003qot.4_Missense_Mutation_p.R31Q|SYNE1_uc003qou.4_Missense_Mutation_p.R31Q|SYNE1_uc010kjb.1_Missense_Mutation_p.R31Q|SYNE1_uc003qpa.1_Missense_Mutation_p.R31Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	31	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTGAAAGTTCGTTTTTGTAC	0.338000										HNSCC(10;0.0054)				21			74		0	0	0.003610	0	0
AGR2	10551	broad.mit.edu	37	7	16832568	16832568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:16832568C>T	uc003str.3	-	7	679	c.492G>A	c.(490-492)atG>atA	p.M164I		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	164					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGCTTTCTTCATGTTGTCAA	0.408000														89			11		0	0	0.001855	0	0
PGS1	9489	broad.mit.edu	37	17	76400049	76400049	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76400049C>T	uc002jvm.3	+	6	1293	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Silent_p.A140A|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Silent_p.A140A	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	427					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TGGCCGGCGCCATCCCAGCGG	0.632000														40			17		0	0	0.001216	0	0
TMEM45A	55076	broad.mit.edu	37	3	100275807	100275807	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:100275807T>C	uc003dua.1	+	3	641	c.442T>C	c.(442-444)Ttt>Ctt	p.F148L	TMEM45A_uc003dtz.1_Missense_Mutation_p.F132L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	132						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAATGCCTTATTTGTGGAGGG	0.383000														53			68		0	0	0.003610	0	0
FBN1	2200	broad.mit.edu	37	15	48786449	48786449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48786449G>A	uc001zwx.2	-	22	3075	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	894	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCACATATGGGATCTGTAATA	0.308000														43			15		0	0	0.004007	0	0
ZNF517	340385	broad.mit.edu	37	8	146033412	146033412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:146033412C>T	uc003zed.1	+	4	1218	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	ZNF517_uc010mgd.1_Missense_Mutation_p.P277S|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Missense_Mutation_p.P277S|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCACGAGTGCCCGGTGTGCGG	0.746000														4			3		0	0	0.004672	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167055571G>A	uc010fpl.3	-	26	5886	c.5545C>T	c.(5545-5547)Cgt>Tgt	p.R1849C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1860						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTGTGAACGAAGAGAATCC	0.453000														60			42		0	0	0.002852	0	0
TNFRSF8	943	broad.mit.edu	37	1	12198328	12198328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12198328G>A	uc001atq.3	+	13	1600	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	TNFRSF8_uc010obc.2_Missense_Mutation_p.E348K|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	460					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCGCGGAAGAGCGAGGGTT	0.672000														24			12		0	0	0.004007	0	0
ZFP112	7771	broad.mit.edu	37	19	44891833	44891833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44891833G>A	uc010xxa.2	-	3	638	c.595C>T	c.(595-597)Cat>Tat	p.H199Y	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.H192Y	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GACTCATGATGATCACATGAG	0.458000														73			24		0	0	0.003330	0	0
MPP2	4355	broad.mit.edu	37	17	41956706	41956706	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:41956706G>A	uc010win.1	-	10	1605	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	MPP2_uc002ien.1_Silent_p.F490F|MPP2_uc010wim.1_Silent_p.F462F|MPP2_uc002ieo.1_Silent_p.F473F|MPP2_uc010wio.1_Silent_p.F462F|MPP2_uc010wip.1_Silent_p.F518F			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	497					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	p.R333H(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCAGGGTCTCGAAGTCTGGGG	0.597000														57			24		0	0	0.002780	0	0
CLCNKA	1187	broad.mit.edu	37	1	16372084	16372084	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16372084C>T	uc001axx.4	+	2	268	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CLCNKA_uc021ogl.1_Intron	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	44					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGAAGCTCTTCCGCCTGGGCG	0.642000														32			10		0	0	0.000978	0	0
PCDH19	57526	broad.mit.edu	37	X	99661775	99661775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:99661775C>T	uc010nmz.3	-	0	3497	c.1821G>A	c.(1819-1821)atG>atA	p.M607I	PCDH19_uc004efw.4_Missense_Mutation_p.M607I|PCDH19_uc004efx.4_Missense_Mutation_p.M607I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	607	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D606N(1)		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						CGCCCTCGGTCATGTCGTAGG	0.552000														5			26		0	0	0.004656	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601523	58601523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58601523G>A	uc010yht.1	-	1	310	c.280C>T	c.(280-282)Cct>Tct	p.P94S	ZSCAN18_uc002qrj.3_Missense_Mutation_p.P38S|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.P38S|ZSCAN18_uc002qri.2_Missense_Mutation_p.P38S|ZSCAN18_uc002qrk.1_Missense_Mutation_p.P38S|ZSCAN18_uc002qrl.2_Missense_Mutation_p.P38S	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	38	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCCTCTCAGGGATGGTCTCG	0.687000														52			19		0	0	0.007413	0	0
ZNF845	91664	broad.mit.edu	37	19	53854487	53854487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53854487C>T	uc010ydv.1	+	3	676	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	ZNF845_uc010ydw.1_Missense_Mutation_p.H187Y	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCCTAAAACCCACATTTCTAA	0.368000														83			18		0	0	0.004990	0	0
TCRA	0	broad.mit.edu	37	14	22447119	22447119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22447119G>A	uc010tmm.2	+	1	292	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		CCCTGTCTTTGAAGAAGCCCC	0.478000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			60		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108107886	108107886	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108107886G>A	uc003dxa.1	-	38	5583	c.5526C>T	c.(5524-5526)atC>atT	p.I1842I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1842						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						CACTGCGACGGATTTCACCCT	0.537000														77			29		0	0	0.002096	0	0
ZMYND10	51364	broad.mit.edu	37	3	50383008	50383008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:50383008C>T	uc003dag.1	-	0	149	c.3G>A	c.(1-3)atG>atA	p.M1I	ZMYND10_uc010hll.1_Missense_Mutation_p.M1I|ZMYND10_uc010hlm.1_5'UTR	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	1						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGGTCTCCCATATCGAGGC	0.682000										TSP Lung(30;0.18)				12			5		0	0	0.000602	0	0
TRPM8	79054	broad.mit.edu	37	2	234894424	234894424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234894424C>T	uc002vvh.3	+	20	2894	c.2854C>T	c.(2854-2856)Ccc>Tcc	p.P952S	TRPM8_uc010fyj.3_Missense_Mutation_p.P530S|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	952						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCCCGGTTCCCCGAGTGGAT	0.547000														29			13		0	0	0.001368	0	0
WDR96	80217	broad.mit.edu	37	10	105953682	105953682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105953682C>T	uc001kxw.3	-	10	1500	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	WDR96_uc001kxx.4_Missense_Mutation_p.E463K|WDR96_uc001kxy.1_Missense_Mutation_p.E463K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	462										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGGGGATTCCTTATCATAT	0.567000														51			17		0	0	0.004007	0	0
ZNF597	146434	broad.mit.edu	37	16	3487251	3487251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3487251C>T	uc002cvd.3	-	3	632	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTGGCTCCTTCCCAGGGAGAA	0.383000														81			17		0	0	0.002299	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834716	125834716	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:125834716G>A	uc001uhe.1	+	1	779	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TMEM132B_uc021rgl.1_Silent_p.E147E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	257						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGCCCGAGAGAGGATTGGGA	0.567000														13			59		0	0	0.003610	0	0
C1orf150	148823	broad.mit.edu	37	1	247737445	247737445	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247737445G>A	uc001idf.3	+	5	316	c.169_splice	c.e5-1	p.E57_splice	C1orf150_uc009xgw.3_Splice_Site|C1orf150_uc001ida.4_Splice_Site|C1orf150_uc001idb.4_Splice_Site|C1orf150_uc009xgx.3_Splice_Site	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	57										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCTTGGCAGGAAAACGAGAA	0.438000														95			34		0	0	0.005524	0	0
AQR	9716	broad.mit.edu	37	15	35178780	35178780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:35178780G>A	uc001ziv.3	-	24	2945	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	922						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCATCTCCTGGAACCCCTAGA	0.363000														59			54		0	0	0.003610	0	0
N4BP2	55728	broad.mit.edu	37	4	40098995	40098995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40098995C>T	uc003guy.4	+	2	373	c.35C>T	c.(34-36)cCt>cTt	p.P12L	N4BP2_uc010ifq.3_5'UTR	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	12						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGGGGAAATCCTTTTCGGAAG	0.403000														55			27		0	0	0.003271	0	0
TUBB1	81027	broad.mit.edu	37	20	57599608	57599608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:57599608G>A	uc002yak.3	+	3	1395	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	376					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCATCCAAGAGATCTTTAA	0.527000														24			27		0	0	0.004656	0	0
MRPS27	23107	broad.mit.edu	37	5	71533937	71533937	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71533937G>A	uc011cse.2	-	5	378	c.342C>T	c.(340-342)aaC>aaT	p.N114N	MRPS27_uc003kca.4_Silent_p.N44N|MRPS27_uc003kbz.4_Silent_p.N100N|MRPS27_uc010iza.3_Silent_p.N44N|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	100						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GGTACCAGCAGTTGGGGCTGT	0.403000														17			41		0	0	0.007835	0	0
OR1S2	219958	broad.mit.edu	37	11	57970737	57970737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57970737C>T	uc010rkb.2	-	0	917	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	306					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)				ATCCTTATTCCTCAAGCTGTA	0.438000														56			71		0	0	0.003610	0	0
DUSP22	56940	broad.mit.edu	37	6	348772	348772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:348772C>T	uc003msx.3	+	6	878	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	DUSP22_uc011dhn.1_Missense_Mutation_p.R147W|DUSP22_uc003msy.1_Missense_Mutation_p.R104W	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTCCAGTATCGGCAGTGGCT	0.517000														106			38		0	0	0.002852	0	0
MMP16	4325	broad.mit.edu	37	8	89198734	89198734	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89198734C>T	uc003yeb.4	-	2	657	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	125					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GCTGCCATTTCTGTCCTGTCA	0.423000														123			64		0	0	0.003610	0	0
ACAA1	30	broad.mit.edu	37	3	38169315	38169316	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38169315_38169316CC>TT	uc003cht.3	-	6	794_795	c.587_588GG>AA	c.(586-588)cgg>cAA	p.R196Q	ACAA1_uc003chu.3_Missense_Mutation_p.R163Q	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCTGCTTCTCCCGTGAAATGCC	0.500000														52			14		0	0	0.004672	0	0
TAF1L	138474	broad.mit.edu	37	9	32634945	32634945	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32634945C>T	uc003zrg.1	-	0	723	c.633G>A	c.(631-633)gaG>gaA	p.E211E	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	211					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGGTCCCATCTCAGATTCTG	0.483000														45			23		0	0	0.003954	0	0
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20344654C>T	uc001vwh.1	+	0	228	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418000														392			77		0	0	0.003610	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367324	3367324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3367324C>T	uc002cut.4	+	5	872	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAAAGAAAATCATTTTGATAT	0.398000														29			17		0	0	0.004007	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756232	94756232	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:94756232C>T	uc001yct.3	-	1	1165	c.699G>A	c.(697-699)gtG>gtA	p.V233V	SERPINA10_uc001ycu.4_Silent_p.V233V	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.	233					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)		AGATGTAATCCACAAGAATTA	0.413000														10			25		0	0	0.003330	0	0
CCDC105	126402	broad.mit.edu	37	19	15131400	15131400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15131400C>T	uc002nae.2	+	2	902	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	268					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGAACCTCTCCCGAGCCCCC	0.592000														12			20		0	0	0.001523	0	0
GRID1	2894	broad.mit.edu	37	10	87628888	87628888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:87628888C>T	uc001kdl.1	-	5	931	c.830G>A	c.(829-831)aGg>aAg	p.R277K	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	277						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CACGGTCATCCTTCCAAGGGC	0.522000										Multiple Myeloma(13;0.14)				81			26		0	0	0.002096	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347257	140347257	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140347257C>T	uc003lii.3	+	0	1511	c.906C>T	c.(904-906)gaC>gaT	p.D302D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.D302D	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	302	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGTCGGACCGGGAGAGGC	0.572000														24			5		0	0	0.001168	0	0
VIT	5212	broad.mit.edu	37	2	36986174	36986174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:36986174C>T	uc002rpl.3	+	5	774	c.472C>T	c.(472-474)Cca>Tca	p.P158S	VIT_uc002rpk.3_Missense_Mutation_p.P158S|VIT_uc010ynf.2_Missense_Mutation_p.P151S|VIT_uc002rpm.3_Missense_Mutation_p.P158S|VIT_uc010ezv.3_Missense_Mutation_p.P158S|VIT_uc010ezw.3_Missense_Mutation_p.P158S	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	158						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCGAAAAGTCCAGCTGCCCA	0.408000														80			25		0	0	0.005443	0	0
OR5B3	441608	broad.mit.edu	37	11	58170031	58170031	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170031G>A	uc010rkf.2	-	0	852	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L283L(1)		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)				AGACCAGAGGGTTCAGCATGG	0.433000														74			32		0	0	0.002836	0	0
PXDNL	137902	broad.mit.edu	37	8	52321654	52321655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52321654_52321655GG>AA	uc003xqu.4	-	16	2630_2631	c.2529_2530CC>TT	c.(2527-2532)ttcccc>ttTTcc	p.P844S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	844					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGTTCATGGGGAAACAAGGAG	0.698000														15			13		0	0	0.004672	0	0
CPEB4	80315	broad.mit.edu	37	5	173372032	173372032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:173372032C>T	uc003mcs.4	+	4	2751	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	CPEB4_uc010jju.2_Missense_Mutation_p.L424F|CPEB4_uc010jjv.3_Missense_Mutation_p.L432F|CPEB4_uc011dfg.2_Missense_Mutation_p.L424F|CPEB4_uc003mcu.4_Missense_Mutation_p.L42F|CPEB4_uc021yhy.1_Missense_Mutation_p.L15F	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	449							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCCTCTTCATAGTGG	0.478000														85			38		0	0	0.005524	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800580	185800580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185800580C>T	uc002uph.3	+	3	1051	c.457C>T	c.(457-459)Caa>Taa	p.Q153*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	153						intracellular	zinc ion binding	p.S152F(1)|p.S152Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAATTTCCCAACGAGTTGT	0.373000														13			14		0	0	0.003163	0	0
ADCK4	79934	broad.mit.edu	37	19	41208578	41208578	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41208578G>A	uc002oor.2	-	9	1122	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Silent_p.L233L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	274	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AAGGCCTGCAGGCTCTGCTCG	0.642000											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			18		0	0	0.001216	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814067	75814067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:75814067G>A	uc010ths.2	-	0	451	c.410C>T	c.(409-411)tCc>tTc	p.S137F						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		TTCAGAATTGGACCTGTTCAG	0.418000														96			44		0	0	0.003610	0	0
UMODL1	89766	broad.mit.edu	37	21	43531747	43531747	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43531747G>A	uc002zag.1	+	10	2415	c.2415G>A	c.(2413-2415)gaG>gaA	p.E805E	UMODL1_uc002zad.1_Silent_p.E605E|UMODL1_uc002zae.1_Silent_p.E733E|UMODL1_uc002zaf.1_Silent_p.E677E	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	727	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCGAAATGAGGACAGTGGAC	0.612000														32			10		0	0	0.000978	0	0
REEP6	92840	broad.mit.edu	37	19	1496322	1496322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1496322G>A	uc002ltc.3	+	3	491	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	129						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCCCTGGAACGGGGCTC	0.662000														31			26		0	0	0.001786	0	0
KIF9	64147	broad.mit.edu	37	3	47305837	47305837	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:47305837C>A	uc010hjp.3	-	9	1524	c.920G>T	c.(919-921)gGa>gTa	p.G307V	KIF9_uc003cqx.3_Missense_Mutation_p.G307V|KIF9_uc003cqy.3_Missense_Mutation_p.G307V|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	307					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATTGCAGTTTCCCCCTGCGGA	0.448000														63			22		3.01185e-09	4.76402e-09	0.003954	1	0
SOX5	6660	broad.mit.edu	37	12	24048856	24048856	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24048856G>A	uc001rfw.3	-	1	243	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SOX5_uc001rfx.3_Silent_p.L34L|SOX5_uc001rfy.3_Silent_p.L34L|SOX5_uc010siv.2_Silent_p.L34L|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.L34L|SOX5_uc001rga.3_Silent_p.L47L	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	47					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G46W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAAAGGCTGGGAGCCCGTCAC	0.527000														129			27		0	0	0.003954	0	0
SERPINE3	647174	broad.mit.edu	37	13	51935993	51935993	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:51935993C>G	uc001vfh.2	+	6	1195	c.1135C>G	c.(1135-1137)Cgg>Ggg	p.R379G	SERPINE3_uc010tgp.2_Missense_Mutation_p.R379G|INTS6_uc001vfi.3_3'UTR|INTS6_uc001vfj.3_3'UTR|INTS6_uc001vfk.3_3'UTR|INTS6_uc001vfl.3_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	379					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TAAAGCAGATCGGCCATTCAT	0.358000														19			8		0	0	0.004482	0	0
EML4	27436	broad.mit.edu	37	2	42544633	42544633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:42544633G>A	uc002rsi.3	+	18	2385	c.2123G>A	c.(2122-2124)gGa>gAa	p.G708E	EML4_uc010fap.3_Missense_Mutation_p.G650E|EML4_uc002rsj.3_Missense_Mutation_p.G397E|EML4_uc010faq.3_Missense_Mutation_p.G53E|EML4_uc010ynv.2_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	708					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTGAAAATGGAAGAAAATAT	0.328000			T	ALK	NSCLC									57			19		0	0	0.003954	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248381	14248381	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:14248381C>T	uc002goh.1	+	1	921	c.591C>T	c.(589-591)acC>acT	p.T197T		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA.	197					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGCAGATCACCATGGAGAAGA	0.612000														5			7		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13766175C>T	uc003jfd.2	-	58	10053	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3337	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)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome					103			24		0	0	0.003954	0	0
TCF23	150921	broad.mit.edu	37	2	27373113	27373113	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27373113G>A	uc010ylg.2	+	1	402	c.345G>A	c.(343-345)ttG>ttA	p.L115L		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	115	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCAAGTTGGACGTGCTGG	0.706000														56			31		0	0	0.002445	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881214	228881214	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228881214G>A	uc002vpq.2	-	6	4403	c.4356C>T	c.(4354-4356)ctC>ctT	p.L1452L	SPHKAP_uc002vpp.2_Silent_p.L1452L|SPHKAP_uc010zlx.1_Silent_p.L1452L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1452						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTCCTCTAGGAGGCTGCTTT	0.498000														33			23		0	0	0.002780	0	0
ITGA1	3672	broad.mit.edu	37	5	52183790	52183790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52183790C>T	uc003jou.3	+	7	1331	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	306	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAACGGTTTTCCATAGCTGTA	0.393000														49			6		0	0	0.001984	0	0
ZNF200	7752	broad.mit.edu	37	16	3274538	3274538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3274538G>A	uc002cuj.2	-	4	1174	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF200_uc002cum.3_Missense_Mutation_p.S180F|ZNF200_uc002cuk.2_Missense_Mutation_p.S181F|ZNF200_uc010bti.2_Missense_Mutation_p.S180F|ZNF200_uc002cui.2_Missense_Mutation_p.S180F|ZNF200_uc002cul.3_Missense_Mutation_p.S180F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S181F(2)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATCATCTGAAGACTTTTCTCT	0.393000														38			16		0	0	0.004007	0	0
VPS13A	23230	broad.mit.edu	37	9	79959074	79959074	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79959074C>T	uc004akr.3	+	50	7292	c.7032C>T	c.(7030-7032)atC>atT	p.I2344I	VPS13A_uc004akp.4_Silent_p.I2344I|VPS13A_uc004akq.4_Silent_p.I2344I|VPS13A_uc004aks.3_Silent_p.I2305I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2344					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAGTGTATCCCCTTTTGGC	0.284000														26			12		0	0	0.001368	0	0
DLG5	9231	broad.mit.edu	37	10	79593792	79593792	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:79593792A>T	uc001jzk.3	-	8	1698	c.1628T>A	c.(1627-1629)cTg>cAg	p.L543Q	DLG5_uc001jzj.3_Missense_Mutation_p.L298Q|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.L147Q	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	543					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTGTCACACAGTGTCCTGGT	0.612000														15			13		0	0	0.004990	0	0
ITGAM	3684	broad.mit.edu	37	16	31308886	31308887	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31308886_31308887GG>AT	uc002ebr.3	+	12	1506_1507	c.1408_1409GG>AT	c.(1408-1410)ggc>ATc	p.G470I	ITGAM_uc002ebq.3_Missense_Mutation_p.G470I|ITGAM_uc010cam.1_Missense_Mutation_p.R73H|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	470					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGACAGCAACGGCAGCACCGAC	0.634000														109			47		0	0	0.004672	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094559	76094559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76094559C>T	uc002jud.2	+	17	5042	c.4442C>T	c.(4441-4443)cCc>cTc	p.P1481L	TNRC6C_uc002juf.2_Missense_Mutation_p.P1517L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1481	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTAACCAATCCCAAGCCCTCC	0.622000														71			21		0	0	0.001216	0	0
ZNF345	25850	broad.mit.edu	37	19	37367907	37367907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37367907G>A	uc002oex.3	+	2	556	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZNF345_uc021utn.1_Missense_Mutation_p.E59K|ZNF345_uc002oey.4_Missense_Mutation_p.E59K|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.E59K|ZNF345_uc021utp.1_Missense_Mutation_p.E59K|ZNF345_uc021utq.1_Missense_Mutation_p.E59K	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	59					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGATGAGAAACTCCT	0.393000														46			19		0	0	0.002780	0	0
MRVI1	10335	broad.mit.edu	37	11	10602094	10602094	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10602094C>T	uc010rcc.1	-	19	2789	c.2403G>A	c.(2401-2403)ctG>ctA	p.L801L	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.L793L|MRVI1_uc001miw.2_Silent_p.L792L|MRVI1_uc001mix.3_Silent_p.L486L|MRVI1_uc001miz.2_Silent_p.L710L|MRVI1_uc010rcd.1_Silent_p.L595L|MRVI1_uc009ygd.1_Silent_p.L486L	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	774	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCTCCTCCTTCAGGTCTTGAA	0.493000														16			76		0	0	0.003610	0	0
PLEC	5339	broad.mit.edu	37	8	144994613	144994613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144994613G>A	uc003zaf.1	-	31	9957	c.9787C>T	c.(9787-9789)Ccc>Tcc	p.P3263S	PLEC_uc003zab.1_Missense_Mutation_p.P3126S|PLEC_uc003zac.1_Missense_Mutation_p.P3130S|PLEC_uc003zad.2_Missense_Mutation_p.P3126S|PLEC_uc003zae.1_Missense_Mutation_p.P3094S|PLEC_uc003zag.1_Missense_Mutation_p.P3104S|PLEC_uc003zah.2_Missense_Mutation_p.P3112S|PLEC_uc003zaj.2_Missense_Mutation_p.P3153S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3263	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCCCGGGGAATGAGGCCC	0.667000														11			8		0	0	0.003080	0	0
DROSHA	29102	broad.mit.edu	37	5	31526876	31526876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526876G>A	uc003jhg.2	-	3	523	c.164C>T	c.(163-165)cCt>cTt	p.P55L	DROSHA_uc003jhh.2_Missense_Mutation_p.P55L|DROSHA_uc003jhi.2_Missense_Mutation_p.P55L|DROSHA_uc010iui.1_Missense_Mutation_p.P46L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	55	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCACTTGGAGGTTCATATTG	0.557000														2			19		0	0	0.001216	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405054	61405054	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61405054C>T	uc001nrz.1	+	4	1658	c.903C>T	c.(901-903)gcC>gcT	p.A301A						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		AGGATGAAGCCAAGGAAGAGT	0.537000														16			15		0	0	0.004990	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280373	32280373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32280373C>T	uc001bts.1	-	1	620	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SPOCD1_uc001btu.3_Missense_Mutation_p.E188K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	188					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGGGGCTCCTCTTTGCTG	0.592000														30			16		0	0	0.004990	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386145	50386145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50386145C>T	uc002pqo.3	+	7	1222	c.923C>T	c.(922-924)tCg>tTg	p.S308L	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.S275L|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	308						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CGGATCTTCTCGGGGGTGAGT	0.672000														39			14		0	0	0.004007	0	0
SMG8	55181	broad.mit.edu	37	17	57288906	57288906	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:57288906C>T	uc002ixi.3	+	0	1536	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	498					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TCTCAGAAAACCGATGCCAAA	0.423000														37			8		0	0	0.003080	0	0
GC	2638	broad.mit.edu	37	4	72635106	72635106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:72635106C>T	uc010iif.3	-	2	222	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	GC_uc003hge.3_Missense_Mutation_p.E24K|GC_uc021xpb.1_Missense_Mutation_p.E24K	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	24	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.L43L(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)	TTATTCTTTTCATAATCCCGG	0.408000														11			7		0	0	0.006214	0	0
C10orf10	11067	broad.mit.edu	37	10	45472977	45472977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:45472977C>T	uc001jbr.4	-	1	792	c.502G>A	c.(502-504)Gat>Aat	p.D168N	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.D168N	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	168						mitochondrion				lung(1)	1						TGCTGCCCATCCTGCGGTGGT	0.637000														18			24		0	0	0.004656	0	0
PIPSL	266971	broad.mit.edu	37	10	95720036	95720036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:95720036C>T	uc009xuj.2	-	0	1637	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GACAGTGTCTCCGTCATGTAT	0.463000														57			27		0	0	0.007291	0	0
BMPER	168667	broad.mit.edu	37	7	34091542	34091542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:34091542C>T	uc011kap.2	+	8	1120	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	249	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GACAATGGATCCTCATTTCTG	0.463000														102			134		0	0	0.003610	0	0
RPH3AL	9501	broad.mit.edu	37	17	63695	63695	+	Missense_Mutation	SNP	C	T	T	rs142240545		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:63695C>T	uc002fre.2	-	9	1239	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	RPH3AL_uc010vpy.2_Silent_p.T249T|RPH3AL_uc021tmx.1_Missense_Mutation_p.R299Q|RPH3AL_uc002frf.2_Missense_Mutation_p.R270Q|RPH3AL_uc010cjl.2_Missense_Mutation_p.R270Q	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	299					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		AGCGGGGGCTCGTCCAGGTGT	0.622000														22			8		0	0	0.003080	0	0
PRDM2	7799	broad.mit.edu	37	1	14108590	14108590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:14108590C>T	uc001avi.3	+	7	5156	c.4300C>T	c.(4300-4302)Ctt>Ttt	p.L1434F	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.L1434F|PRDM2_uc001avk.3_Missense_Mutation_p.L1233F|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1434	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAAGCAATTCTTCAGAAAAA	0.373000														69			48		0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128367446	128367446	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128367446T>A	uc002top.3	+	23	3100	c.3047T>A	c.(3046-3048)gTc>gAc	p.V1016D		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1016	MyTH4 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATATGGAACGTCATCCTGAGG	0.592000														6			6		0	0	0.006214	0	0
DDI1	414301	broad.mit.edu	37	11	103907792	103907792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:103907792G>A	uc001phr.2	+	0	485	c.242G>A	c.(241-243)gGa>gAa	p.G81E	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACAATGTGGGACCTCGGGCT	0.607000														85			81		0	0	0.003610	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717389	169717389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:169717389G>A	uc002ueg.3	+	13	1530	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	NOSTRIN_uc002uef.3_Missense_Mutation_p.G479R|NOSTRIN_uc002ueh.3_Missense_Mutation_p.G344R|NOSTRIN_uc010fpu.3_Missense_Mutation_p.G394R|NOSTRIN_uc002uek.3_Missense_Mutation_p.G106R	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	422					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ATCTTCTGGTGGGCAGAGCAA	0.418000														22			14		0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135428096	135428096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:135428096G>A	uc004ezu.1	+	5	2522	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	GPR112_uc010nsb.1_Missense_Mutation_p.G539E|GPR112_uc010nsc.1_Missense_Mutation_p.G511E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	744					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAGTTTCTGGAACCACATCC	0.378000														3			35		0	0	0.003755	0	0
IRF6	3664	broad.mit.edu	37	1	209968732	209968732	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:209968732C>T	uc001hhq.2	-	4	715	c.411G>A	c.(409-411)aaG>aaA	p.K137K	IRF6_uc010psm.2_Silent_p.K42K	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	137					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K137N(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CATCATTATCCTTCTCATCCC	0.542000										HNSCC(57;0.16)				27			59		0	0	0.003610	0	0
HOXD10	3236	broad.mit.edu	37	2	176981967	176981967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:176981967C>T	uc002ukj.3	+	0	476	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	136						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGGCTGGTCCCTGAGTCTTG	0.493000														86			48		0	0	0.003610	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237194	22237194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22237194G>A	uc001wbt.1	+	1	278	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		ACTCATACGTGAAAATGAGAA	0.453000														49			44		0	0	0.002522	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959966	73959966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73959966C>T	uc004eby.3	-	2	5043	c.4426G>A	c.(4426-4428)Gag>Aag	p.E1476K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1476					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCCCAGACTCATCCTTGTGG	0.478000														5			36		0	0	0.001951	0	0
UBR5	51366	broad.mit.edu	37	8	103306290	103306290	+	Silent	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:103306290T>A	uc003ykr.2	-	32	4697	c.4242A>T	c.(4240-4242)acA>acT	p.T1414T	UBR5_uc003yks.2_Silent_p.T1414T	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1414					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACGTCCAGGTGTATATTTGT	0.338000														37			27		0	0	0.006320	0	0
XPC	7508	broad.mit.edu	37	3	14214555	14214555	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:14214555A>G	uc011ave.2	-	1	215	c.111T>C	c.(109-111)ttT>ttC	p.F37F	XPC_uc011avf.2_5'UTR|XPC_uc011avg.2_Silent_p.F37F	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	37	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCATCTTCAAAGGCATCTA	0.507000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					2			3		0	0	0.004672	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129222	248129222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248129222C>T	uc010pzd.2	+	0	589	c.589C>T	c.(589-591)Cca>Tca	p.P197S	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTGTGAAGTTCCAGCTCTACT	0.428000														56			13		0	0	0.003163	0	0
NPY5R	4889	broad.mit.edu	37	4	164271428	164271429	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164271428_164271429GG>AT	uc003iqn.3	+	3	185_186	c.3_4GG>AT	c.(1-6)atggat>atATat	p.1_2MD>IY	NPY5R_uc021xtw.1_Missense_Mutation_p.1_2MD>IY	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	1					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)				ACTATAATATGGATTTAGAGCT	0.347000														26			13		0	0	0.004672	0	0
DOCK3	1795	broad.mit.edu	37	3	51297629	51297629	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:51297629C>T	uc011bds.2	+	22	2250	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	743						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCACGGATCCTGTACTCACG	0.468000														12			25		0	0	0.003954	0	0
ADCY2	108	broad.mit.edu	37	5	7626297	7626297	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:7626297C>T	uc003jdz.1	+	3	655	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	196				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAATGTGATCATTTTCATCT	0.443000														153			21		0	0	0.002299	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	C	C	rs145412486	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000														86			10		0	0	0.000673	0	0
NR6A1	2649	broad.mit.edu	37	9	127316621	127316621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127316621C>T	uc004bor.1	-	2	549	c.371G>A	c.(370-372)gGg>gAg	p.G124E	NR6A1_uc004boq.1_Missense_Mutation_p.G120E|NR6A1_uc010mwq.1_Missense_Mutation_p.G120E	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	124					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCGGTTCATCCCCATCTGGAG	0.493000														73			25		0	0	0.005443	0	0
COL5A1	1289	broad.mit.edu	37	9	137582856	137582856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:137582856G>A	uc004cfe.3	+	1	590	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	70	TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCTTCCAAAGGCCCGGATGT	0.552000														40			12		0	0	0.000978	0	0
ASH1L	55870	broad.mit.edu	37	1	155451426	155451426	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:155451426G>T	uc009wqq.3	-	2	1715	c.1235C>A	c.(1234-1236)cCt>cAt	p.P412H	ASH1L_uc001fkt.3_Missense_Mutation_p.P412H|ASH1L_uc009wqr.1_Missense_Mutation_p.P412H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	412					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCTGCCAAAGGACAACTCAT	0.438000														87			18		5.3912e-06	8.50615e-06	0.006122	1	0
ULK2	9706	broad.mit.edu	37	17	19699438	19699438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:19699438G>A	uc002gwm.4	-	18	2476	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	ULK2_uc002gwn.3_Missense_Mutation_p.A656V	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	656					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTGCTCGGCCCGCTGCCT	0.458000														58			15		0	0	0.007413	0	0
IL17RC	84818	broad.mit.edu	37	3	9959648	9959649	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9959648_9959649CC>TT	uc003bua.3	+	2	600_601	c.382_383CC>TT	c.(382-384)ccg>TTg	p.P128L	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.P57L|IL17RC_uc003btz.3_Missense_Mutation_p.P57L|IL17RC_uc011atp.2_5'UTR|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.P57L|IL17RC_uc010hcu.3_Missense_Mutation_p.P57L|IL17RC_uc003bub.3_Missense_Mutation_p.P57L|IL17RC_uc010hcv.3_Missense_Mutation_p.P57L|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.P57L	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	128						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGTGCCTGCTCCGGGCCCCGTG	0.624000														11			20		0	0	0.004672	0	0
TRANK1	9881	broad.mit.edu	37	3	36873271	36873271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36873271C>T	uc003cgj.3	-	20	7919	c.7671G>A	c.(7669-7671)atG>atA	p.M2557I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2557					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGGGCAGTCCATGCTCATGA	0.577000														47			17		0	0	0.007413	0	0
C10orf25	220979	broad.mit.edu	37	10	45495838	45495838	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:45495838G>T	uc001jbv.2	-	1	520	c.357C>A	c.(355-357)tgC>tgA	p.C119*	ZNF22_uc001jbw.3_5'Flank|ZNF22_uc021ppo.1_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	Homo sapiens chromosome 10 open reading frame 25 (C10orf25), mRNA.	119						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						agatgactgagcACGGCCAGG	0.527000														17			4		1.23904e-05	1.95248e-05	0.000602	1	0
SGMS1	259230	broad.mit.edu	37	10	52071147	52071147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:52071147C>T	uc001jje.3	-	8	1724	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SGMS1_uc010qhk.2_Missense_Mutation_p.R88Q|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_Missense_Mutation_p.E218K	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	263					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CATTATTCTTCGCAGTTGGGC	0.453000														9			23		0	0	0.002780	0	0
CCDC141	285025	broad.mit.edu	37	2	179742691	179742691	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179742691C>T	uc002une.2	-	12	2017	c.1899_splice	c.e12+1	p.M633_splice	CCDC141_uc002ung.3_Missense_Mutation_p.M633I|CCDC141_uc002unf.1_Splice_Site_p.M112_splice	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	58							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)			CCATTCTTACCATATTTATTA	0.358000														29			9		0	0	0.004482	0	0
OR2L2	26246	broad.mit.edu	37	1	248201930	248201930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248201930C>T	uc001idw.3	+	0	457	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GGCCTATGATCGTTATGTGGC	0.428000														93			29		0	0	0.001786	0	0
DOCK5	80005	broad.mit.edu	37	8	25190120	25190120	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:25190120T>G	uc003xeg.3	+	20	2139	c.2002_splice	c.e20-1	p.F668_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Splice_Site_p.F382_splice|DOCK5_uc003xei.3_Splice_Site_p.F238_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	668	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TATCTTCAGTTTTTGCAAGAT	0.368000														9			5		0	0	0.000602	0	0
TNC	3371	broad.mit.edu	37	9	117838849	117838849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117838849C>T	uc004bjj.4	-	7	3092	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	TNC_uc010mvf.3_Missense_Mutation_p.D894N|TNC_uc022bmj.1_Missense_Mutation_p.D894N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	894	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.L893L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGGGAGCATCGAGGCCTGTT	0.453000														84			52		0	0	0.003610	0	0
DPEP2	64174	broad.mit.edu	37	16	68025810	68025810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68025810G>A	uc010cey.3	-	3	757	c.593C>T	c.(592-594)tCc>tTc	p.S198F	DPEP2_uc002eve.3_Missense_Mutation_p.S198F|DPEP2_uc002evf.3_Non-coding_Transcript|DPEP2_uc002evg.3_3'UTR	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	198					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGTAAGATGGAGAGGCTATT	0.572000														41			23		0	0	0.003330	0	0
DOCK3	1795	broad.mit.edu	37	3	51297686	51297686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:51297686G>A	uc011bds.2	+	22	2307	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	762						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTATCCAAGAACTTTTCCA	0.478000														23			10		0	0	0.001368	0	0
KCTD7	154881	broad.mit.edu	37	7	66104087	66104087	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:66104087C>T	uc003tve.3	+	3	922	c.738C>T	c.(736-738)caC>caT	p.H246H	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Silent_p.H246H	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACCTGCTGCACTGCCTGGTCA	0.592000														48			97		0	0	0.003610	0	0
MFAP3	4238	broad.mit.edu	37	5	153433112	153433112	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:153433112C>T	uc010jib.2	+	2	1147	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	MFAP3_uc011ddb.1_Nonsense_Mutation_p.Q164*|MFAP3_uc003lvf.2_Nonsense_Mutation_p.Q310*|MFAP3_uc021ygf.1_Nonsense_Mutation_p.Q164*	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	310						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGAACAAGGCCAGGAAATAGC	0.448000														62			15		0	0	0.004007	0	0
SEMA3B	7869	broad.mit.edu	37	3	50312345	50312345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:50312345G>A	uc003cyu.3	+	13	1668	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	SEMA3B_uc003cyt.3_Missense_Mutation_p.E475K|SEMA3B_uc003cyv.3_Missense_Mutation_p.E364K|SEMA3B_uc003cyw.3_Missense_Mutation_p.E200K|SEMA3B_uc010hli.3_Missense_Mutation_p.E369K|SEMA3B_uc003cyx.3_Missense_Mutation_p.E363K|SEMA3B_uc003cyy.3_Missense_Mutation_p.E134K|SEMA3B_uc011bdo.2_Missense_Mutation_p.E134K	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	477	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGCTCCTGGAGGAGCTGCA	0.662000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			13		0	0	0.003163	0	0
GHR	2690	broad.mit.edu	37	5	42719252	42719252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:42719252C>T	uc021xxv.1	+	9	1801	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	GHR_uc003jmt.3_Missense_Mutation_p.P548L|GHR_uc003jmu.3_Missense_Mutation_p.P548L|GHR_uc003jmv.2_Missense_Mutation_p.P548L|GHR_uc021xxw.1_Missense_Mutation_p.P548L|GHR_uc021xxx.1_Missense_Mutation_p.P548L|GHR_uc021xxy.1_Missense_Mutation_p.P548L|GHR_uc021xxz.1_Missense_Mutation_p.P548L|GHR_uc021xya.1_Missense_Mutation_p.P548L|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.P361L|GHR_uc021xyd.1_Missense_Mutation_p.P526L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	548					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)	CCTGTGGCTCCTCACATCAAG	0.493000														31			4		0	0	0.000602	0	0
HNRNPL	3191	broad.mit.edu	37	19	39306353	39306353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39306353G>A	uc002oji.3	-	9	972	c.887C>T	c.(886-888)tCc>tTc	p.S296F	LGALS4_uc002ojg.3_5'Flank|LGALS4_uc010xuj.2_5'Flank	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CATGTTCCAGGACGCCTGGTA	0.557000														26			11		0	0	0.001368	0	0
ZNF536	9745	broad.mit.edu	37	19	30934682	30934682	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30934682C>T	uc002nsu.1	+	1	351	c.213C>T	c.(211-213)ccC>ccT	p.P71P	ZNF536_uc010edd.1_Silent_p.P71P	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCACGTGCCCATGAGCGGCC	0.682000														16			19		0	0	0.001523	0	0
CD74	972	broad.mit.edu	37	5	149792262	149792262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149792262C>T	uc003lsc.3	-	0	238	c.51G>A	c.(49-51)atG>atA	p.M17I	CD74_uc003lsd.3_Missense_Mutation_p.M17I|CD74_uc003lse.3_Missense_Mutation_p.M17I	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	17					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTCATCCATGACTGGCT	0.617000			T	ROS1	NSCLC									181			36		0	0	0.002222	0	0
ZNF786	136051	broad.mit.edu	37	7	148769427	148769427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148769427G>A	uc003wfh.2	-	3	574	c.437C>T	c.(436-438)gCc>gTc	p.A146V	ZNF786_uc011kuk.1_Missense_Mutation_p.A109V|ZNF786_uc003wfi.2_Missense_Mutation_p.A60V	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A145G(2)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGAGCCCTGGCGTCGTGTCT	0.542000														6			34		0	0	0.004289	0	0
CKMT1A	548596	broad.mit.edu	37	15	43991269	43991269	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43991269C>T	uc001zsn.3	+	9	1628	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	CKMT1A_uc010uea.2_Silent_p.V443V	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	412					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CCACACCTGTCATCCACACCA	0.502000														67			46		0	0	0.003610	0	0
ZNF534	147658	broad.mit.edu	37	19	52942068	52942068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52942068C>T	uc002pzk.3	+	3	1461	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.S452F	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAAGTCTTCCCTAACCTAT	0.423000														4			11		0	0	0.000978	0	0
PLCL2	23228	broad.mit.edu	37	3	17056316	17056316	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:17056316C>T	uc011awc.2	+	3	3003	c.2907C>T	c.(2905-2907)gtC>gtT	p.V969V	PLCL2_uc011awd.2_Silent_p.V851V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	977					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCTAGTGGTCCTAAATCTCA	0.537000														105			47		0	0	0.003610	0	0
DDX5	1655	broad.mit.edu	37	17	62496442	62496442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:62496442G>A	uc010deh.2	-	12	1487	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	DDX5_uc002jek.2_Missense_Mutation_p.R482C|DDX5_uc002jej.2_Missense_Mutation_p.R377C|DDX5_uc010wqa.1_Missense_Mutation_p.R403C	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	482					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCCTGGAACGACCTGTCAAG	0.418000			T	ETV4	prostate									46			42		0	0	0.002522	0	0
ZNF230	7773	broad.mit.edu	37	19	44515476	44515476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44515476C>T	uc002oyb.1	+	4	1536	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGGAAAGAGGCTTGTACACCG	0.458000														25			26		0	0	0.003954	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970019	161970020	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161970019_161970020GG>AA	uc010pkq.2	-	4	1259_1260	c.835_836CC>TT	c.(835-837)ccc>TTc	p.P279F	OLFML2B_uc001gbu.3_Missense_Mutation_p.P278F	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTCTGCAGGGGCCGCTGTGAC	0.599000														24			53		0	0	0.004672	0	0
C16orf45	89927	broad.mit.edu	37	16	15661910	15661910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:15661910C>T	uc002ddo.3	+	2	487	c.301C>T	c.(301-303)Cca>Tca	p.P101S	C16orf45_uc002ddp.3_Missense_Mutation_p.P84S	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	101										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGTCGCCATCCCAGGTAACCA	0.557000														20			8		0	0	0.006214	0	0
FSIP2	401024	broad.mit.edu	37	2	186672480	186672480	+	Silent	SNP	C	T	T	rs138135058	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:186672480C>T	uc002upl.3	+	16	18714	c.18714C>T	c.(18712-18714)atC>atT	p.I6238I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.I847I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGAAAACATCGTTGAAAAGA	0.393000														22			12		0	0	0.000978	0	0
ZNF418	147686	broad.mit.edu	37	19	58439268	58439268	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58439268A>C	uc002qqs.1	-	3	573	c.281T>G	c.(280-282)aTt>aGt	p.I94S	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.I9S	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CAAGTGCAAAATGTCTCCCAA	0.498000														41			69		0	0	0.003610	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:43032468C>T	uc003gwt.3	+	3	785	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R262*(2)|p.R262L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000														55			47		0	0	0.003610	0	0
INPP4A	3631	broad.mit.edu	37	2	99155368	99155368	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:99155368C>T	uc002syy.3	+	8	987	c.594C>T	c.(592-594)gtC>gtT	p.V198V	INPP4A_uc010yvj.1_Silent_p.V198V|INPP4A_uc010yvk.2_Silent_p.V198V|INPP4A_uc002syx.3_Silent_p.V198V|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	198					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTCTTCCTGTCGATGAGAGCT	0.428000														15			5		0	0	0.003080	0	0
NPM1	4869	broad.mit.edu	37	5	170818768	170818768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:170818768C>T	uc003mbi.3	+	3	562	c.317C>T	c.(316-318)tCa>tTa	p.S106L	NPM1_uc003mbh.3_Missense_Mutation_p.S106L|NPM1_uc003mbj.3_Missense_Mutation_p.S106L	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	106	Necessary for interaction with APEX1.|Required for interaction with SENP3.				CenH3-containing nucleosome assembly at centromere|DNA repair|anti-apoptosis|cell aging|centrosome cycle|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	NF-kappaB binding|RNA binding|Tat protein binding|histone binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|transcription coactivator activity|unfolded protein binding	p.S106*(3)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTGTGGTTCAGGGCCAGTG	0.393000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""									30			64		0	0	0.003610	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976345	7976345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7976345C>T	uc002mit.3	+	8	1026	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MAP2K7_uc002miv.2_Missense_Mutation_p.P328S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.P196S|MAP2K7_uc010xkb.2_Missense_Mutation_p.P328S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	321	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGGACAGTTTCCCTACAAGAA	0.602000														11			23		0	0	0.006320	0	0
PLD1	5337	broad.mit.edu	37	3	171452666	171452666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:171452666G>A	uc003fhs.3	-	4	876	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	PLD1_uc003fht.3_Missense_Mutation_p.L177F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	177	PX.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTCTACCAAGGAATTGTTCT	0.438000														92			27		0	0	0.005443	0	0
GLRB	2743	broad.mit.edu	37	4	158057999	158057999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:158057999C>T	uc003ipj.2	+	5	773	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	GLRB_uc021xtp.1_Missense_Mutation_p.P191S|GLRB_uc021xtq.1_Missense_Mutation_p.P191S	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	191					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)	GACATTGTTTCCCATGGATAC	0.348000														21			20		0	0	0.002299	0	0
CRTC2	200186	broad.mit.edu	37	1	153924553	153924553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153924553G>A	uc021pab.1	-	9	1097	c.938C>T	c.(937-939)aCc>aTc	p.T313I	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	313					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGAGTCATGGTGTGGGTCAA	0.622000														88			20		0	0	0.001523	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908410	24908410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:24908410G>A	uc001isb.2	-	8	2901	c.2414C>T	c.(2413-2415)cCa>cTa	p.P805L	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P805L|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P640L|ARHGAP21_uc001isc.1_Missense_Mutation_p.P795L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	804					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACCTATAAATGGGATGGAAGC	0.418000														38			25		0	0	0.005443	0	0
ERCC6	2074	broad.mit.edu	37	10	50682237	50682238	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50682237_50682238AG>TA	uc001jhs.4	-	12	2587_2588	c.2433_2434CT>TA	c.(2431-2436)ctcttt>ctTAtt	p.F812I	ERCC6_uc009xod.3_5'UTR|ERCC6_uc010qgr.2_Missense_Mutation_p.F182I|ERCC6_uc001jhr.4_Missense_Mutation_p.F180I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	812					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTCCAGAAAAGAGATCAGGGT	0.406000								Direct reversal of damage;Nucleotide excision repair (NER)						57			13		0	0	0.004672	0	0
TRPM2	7226	broad.mit.edu	37	21	45861646	45861646	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45861646G>A	uc010gpt.1	+	32	4708	c.4608G>A	c.(4606-4608)gcG>gcA	p.A1536A	TRPM2_uc002zet.1_Silent_p.A1486A|TRPM2_uc002zeu.1_Silent_p.A1486A|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.A1486A|TRPM2_uc002zex.1_Silent_p.A1272A|TRPM2_uc002zey.1_Silent_p.A965A|TRPM2_uc011aff.1_Silent_p.A167A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1486						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACTCTATGCGAACCACAAGA	0.637000														31			11		0	0	0.000673	0	0
OR4M1	441670	broad.mit.edu	37	14	20248886	20248886	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20248886C>T	uc010tku.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTACCATCATGAATCGAC	0.498000														573			96		0	0	0.003610	0	0
SNTG1	54212	broad.mit.edu	37	8	51306823	51306823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:51306823G>A	uc010lxy.1	+	3	396	c.25G>A	c.(25-27)Gag>Aag	p.E9K	SNTG1_uc003xqs.1_Missense_Mutation_p.E9K|SNTG1_uc010lxz.1_Missense_Mutation_p.E9K|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	9					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGCCTGTGAGGAGGTGAGTAC	0.443000														27			17		0	0	0.007413	0	0
SMPX	23676	broad.mit.edu	37	X	21761934	21761934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:21761934C>T	uc004daa.3	-	2	297	c.66G>A	c.(64-66)atG>atA	p.M22I	SMPX_uc022btv.1_Non-coding_Transcript	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.	22					striated muscle contraction					breast(1)|endometrium(1)	2						GAAAGGCTCCCATTGGAATAT	0.428000														48			34		0	0	0.006230	0	0
CD4	920	broad.mit.edu	37	12	6927708	6927708	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6927708G>A	uc001qqv.2	+	8	1536	c.1278_splice	c.e8+1	p.R426_splice	CD4_uc010sfj.2_Splice_Site_p.R153_splice|CD4_uc009zfc.2_Splice_Site_p.R247_splice|CD4_uc010sfl.2_Splice_Site_p.R153_splice|CD4_uc010sfk.2_Splice_Site_p.R153_splice|CD4_uc010sfm.1_Splice_Site_p.R153_splice	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	426					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GGCACCGAAGGGTGAGTAACC	0.597000														11			24		0	0	0.004656	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370593	60370593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:60370593G>A	uc001czq.3	-	6	1146	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	381					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.P381P(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ACTTCCCTGGGAACGTTCAGG	0.547000														35			21		0	0	0.003954	0	0
ABHD3	171586	broad.mit.edu	37	18	19282424	19282424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:19282424G>A	uc002ktl.2	-	2	502	c.362C>T	c.(361-363)tCa>tTa	p.S121L	ABHD3_uc010xao.1_Non-coding_Transcript|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	121						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CCAGTCCAGTGAAATCTGTCC	0.373000														14			19		0	0	0.007413	0	0
DAOA	267012	broad.mit.edu	37	13	106124949	106124949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:106124949G>A	uc001vqb.3	+	2	470	c.196G>A	c.(196-198)Gag>Aag	p.E66K	DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_Missense_Mutation_p.M1I|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	66						Golgi apparatus		p.E66A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GAGAAGGCATGAGGACGGCTA	0.413000														7			14		0	0	0.001855	0	0
NOXO1	124056	broad.mit.edu	37	16	2029903	2029903	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2029903G>A	uc002cnx.3	-	6	862	c.602_splice	c.e6-1	p.G201_splice	TCRBV20S1_uc021tak.1_Intron|NOXO1_uc002cny.3_Splice_Site_p.G196_splice|NOXO1_uc002cnz.3_Splice_Site_p.G195_splice|NOXO1_uc002coa.3_Splice_Site_p.G200_splice	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	Homo sapiens NADPH oxidase organizer 1 (NOXO1), transcript variant c, mRNA.	201	SH3 1.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CCAGCCACCAGCCTGTGCGCA	0.687000														1			6		0	0	0.001984	0	0
CEP164	22897	broad.mit.edu	37	11	117242073	117242073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:117242073C>T	uc001prc.3	+	8	1190	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CEP164_uc001prb.3_Missense_Mutation_p.P348L|CEP164_uc010rxk.1_Missense_Mutation_p.P322L|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	348					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus		p.P348Q(2)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAAGCACCAGAGGACACA	0.537000														14			36		0	0	0.003271	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196577	58196577	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58196577C>T	uc003djo.1	-	0	154	c.57G>A	c.(55-57)ctG>ctA	p.L19L	DNASE1L3_uc011bfd.1_Silent_p.L19L|DNASE1L3_uc003djp.1_Silent_p.L19L|DNASE1L3_uc003djq.1_Silent_p.L19L	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	19			L -> V (in a breast cancer sample; somatic mutation).		DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.L19V(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCTCATGGCCAGGGCGCTGT	0.567000														56			25		0	0	0.003954	0	0
MST1P2	11209	broad.mit.edu	37	1	16976624	16976624	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16976624G>A	uc010och.2	+	13		c.2345G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GTCCTGAAAGGAATTAGAATC	0.577000														51			4		0	0	0.000602	0	0
ULBP3	79465	broad.mit.edu	37	6	150387223	150387223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150387223C>T	uc003qns.3	-	1	245	c.164G>A	c.(163-165)aGc>aAc	p.S55N	ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Intron	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	55	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCACCTGGCTCTGGACCTC	0.463000														17			51		0	0	0.003610	0	0
GRM4	2914	broad.mit.edu	37	6	34003929	34003929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:34003929G>A	uc003oir.4	-	7	2321	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L	GRM4_uc011dsn.2_Missense_Mutation_p.S606L|GRM4_uc010jvh.3_Missense_Mutation_p.S653L|GRM4_uc010jvi.3_Missense_Mutation_p.S345L|GRM4_uc003oio.3_Missense_Mutation_p.S345L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S513L|GRM4_uc003oiq.3_Missense_Mutation_p.S520L|GRM4_uc011dsm.2_Missense_Mutation_p.S484L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	653					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCGGCGCAGCGAGCAGGTGCC	0.612000														37			46		0	0	0.003610	0	0
PSG4	5672	broad.mit.edu	37	19	43702150	43702150	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43702150G>A	uc002ovy.3	-	3	811	c.709_splice	c.e3+1	p.P237_splice	PSG4_uc010xwk.1_Splice_Site_p.P76_splice|PSG4_uc002ovz.3_Splice_Site_p.H237_splice|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	237	Ig-like C2-type 2.				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)				GATACTCACGGAGGAGATTCA	0.522000														156			49		0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7583607	7583607	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7583607A>G	uc003mxp.1	+	23	6391	c.6112A>G	c.(6112-6114)Aaa>Gaa	p.K2038E	DSP_uc003mxq.1_Missense_Mutation_p.K1439E|DSP_uc021yle.1_Missense_Mutation_p.K1595E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2038	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.K2038K(1)		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)		CAAGAGAAAGAAATTAATCAG	0.488000														79			36		0	0	0.004289	0	0
MYO3A	53904	broad.mit.edu	37	10	26455032	26455032	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26455032C>T	uc001isn.2	+	26	3396	c.3036C>T	c.(3034-3036)ccC>ccT	p.P1012P	MYO3A_uc009xko.1_Silent_p.P1012P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1012	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCGAGGAGCCCCGCATGAGCC	0.458000														113			46		0	0	0.003610	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087068	39087068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39087068G>A	uc011aej.1	-	2	445	c.392C>T	c.(391-393)cCt>cTt	p.P131L	KCNJ6_uc002ywo.2_Missense_Mutation_p.P131L	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	131					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTAACACAAGGAGTCCAGGA	0.468000														74			22		0	0	0.002299	0	0
OR6K6	128371	broad.mit.edu	37	1	158725577	158725577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158725577G>A	uc001fsw.1	+	0	972	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	324					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)					ACAAGGACATGAAAGAGGCTA	0.453000														109			28		0	0	0.002445	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717156	142717156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:142717156G>A	uc022cfm.1	-	0	1769	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	SLITRK4_uc022cfl.1_Missense_Mutation_p.P590L|SLITRK4_uc004fbx.3_Missense_Mutation_p.P590L|SLITRK4_uc004fby.3_Missense_Mutation_p.P590L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	590						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGTGAATGGTGCAGACGG	0.448000														43			28		0	0	0.007291	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949602	91949602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91949602C>T	uc004aqj.1	+	6	1126	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	SECISBP2_uc010mqn.1_Missense_Mutation_p.P310L|SECISBP2_uc004aqi.1_Missense_Mutation_p.P237L|SECISBP2_uc010mqo.1_Missense_Mutation_p.P54L|SECISBP2_uc004aqk.1_Missense_Mutation_p.P276L|SECISBP2_uc011ltk.1_Missense_Mutation_p.P348L|SECISBP2_uc011ltl.1_Missense_Mutation_p.P281L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	349					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCTTCGGATCCTTCCTACAAC	0.388000														26			14		0	0	0.001855	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:41306689C>T	uc002xkg.3	-	6	1154	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_uc010ggj.3_Missense_Mutation_p.E324K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000														93			18		0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10305102	10305102	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10305102C>T	uc002gmm.2	-	23	2784	c.2689_splice	c.e23-1	p.E897_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	897					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						CTATCTGCTTCCTATGGAGAG	0.358000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					49			88		0	0	0.003610	0	0
LALBA	3906	broad.mit.edu	37	12	48963761	48963762	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48963761_48963762GG>AA	uc001rrt.3	-	0	68_69	c.42_43CC>TT	c.(40-45)ttccct>ttTTct	p.P15S		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	15					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGGATGGCAGGGAACAGGATGC	0.470000														37			145		0	0	0.004672	0	0
RBM22	55696	broad.mit.edu	37	5	150072586	150072586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150072586G>A	uc003lst.3	-	9	1125	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	335	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)			GGAGGAGGAAGAGCTGGAGGA	0.517000														46			19		0	0	0.002780	0	0
MRC2	9902	broad.mit.edu	37	17	60768038	60768038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60768038G>A	uc002jad.3	+	26	4330	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	MRC2_uc002jae.3_Missense_Mutation_p.E381K|MRC2_uc002jaf.3_Missense_Mutation_p.E176K	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1310	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGATGAGATGGAGAATGTGTT	0.637000														53			18		0	0	0.001523	0	0
CTNND2	1501	broad.mit.edu	37	5	11732286	11732286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:11732286C>T	uc003jfa.1	-	1	281	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	46					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGGTGGTTTCTGTTTCAGAG	0.478000														34			54		0	0	0.003610	0	0
ZNF550	162972	broad.mit.edu	37	19	58059242	58059243	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58059242_58059243CC>AA	uc002qpe.1	-	1	246_247	c.246_247GG>TT	c.(244-249)ttgggg>ttTTgg	p.82_83LG>FW	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G83W(2)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		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;0.026)		CTAGCTCTCCCCAACCTCGAAT	0.530000														334			10		0	0	0.004672	0	0
CEP170	9859	broad.mit.edu	37	1	243333023	243333023	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:243333023C>A	uc021plo.1	-	11	2158	c.1750G>T	c.(1750-1752)Gtt>Ttt	p.V584F	CEP170_uc021plp.1_Missense_Mutation_p.V486F|CEP170_uc021plq.1_Missense_Mutation_p.V486F	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	584						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)			CACTGTGAAACCCAACGTTTG	0.398000														31			14		1.49906e-05	2.36163e-05	0.002450	1	0
KCNJ8	3764	broad.mit.edu	37	12	21919284	21919284	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21919284C>T	uc001rff.3	-	2	986	c.648G>A	c.(646-648)agG>agA	p.R216R		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	216						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCATGCTTTTCCTCAGGTCAC	0.507000														100			18		0	0	0.001216	0	0
OR6C76	390326	broad.mit.edu	37	12	55820236	55820236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55820236G>A	uc010spm.2	+	0	199	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCTCCTTGGAAATTTCATT	0.398000														340			23		0	0	0.001882	0	0
NLRP9	338321	broad.mit.edu	37	19	56249719	56249719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56249719C>T	uc002qly.3	-	0	50	c.22G>A	c.(22-24)Gat>Aat	p.D8N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	8	DAPIN.					cytoplasm	ATP binding	p.S7S(1)|p.D8G(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGCCAAAATCCGAAAAAAAA	0.403000														100			33		0	0	0.004289	0	0
IGF1R	3480	broad.mit.edu	37	15	99500587	99500587	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:99500587C>T	uc002bul.3	+	20	4070	c.4020C>T	c.(4018-4020)ttC>ttT	p.F1340F	IGF1R_uc010bon.3_Silent_p.F1339F	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1340					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCGCCAGCTTCGACGAGAGAC	0.667000														30			22		0	0	0.002299	0	0
SLC38A4	55089	broad.mit.edu	37	12	47163181	47163181	+	Missense_Mutation	SNP	G	A	A	rs142179678		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47163181G>A	uc001rpi.2	-	14	1729	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	SLC38A4_uc001rpj.2_Missense_Mutation_p.P444S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	444					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)					GGTCGTTTGGGAAATAACAGT	0.348000														72			20		0	0	0.001882	0	0
MYO3A	53904	broad.mit.edu	37	10	26490203	26490203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26490203C>T	uc001isn.2	+	32	4915	c.4555C>T	c.(4555-4557)Caa>Taa	p.Q1519*	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1519					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGTCAATCCAAGAAGAAAA	0.244000														7			4		0	0	0.000248	0	0
COL6A5	256076	broad.mit.edu	37	3	130188179	130188179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:130188179C>T	uc010htj.1	+	37	7825	c.7331C>T	c.(7330-7332)tCc>tTc	p.S2444F	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S483F|COL6A5_uc010htk.1_Missense_Mutation_p.S483F	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2444	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTGTTTTCCTTTGGCCCT	0.443000														8			25		0	0	0.003954	0	0
KIF20B	9585	broad.mit.edu	37	10	91497753	91497753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91497753C>T	uc001kgs.1	+	19	3227	c.3155C>T	c.(3154-3156)tCt>tTt	p.S1052F	KIF20B_uc001kgr.1_Missense_Mutation_p.S1012F|KIF20B_uc001kgt.1_Missense_Mutation_p.S263F|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1052					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGGAAAATTCTTTCCACTCT	0.333000														75			40		0	0	0.003214	0	0
OPALIN	93377	broad.mit.edu	37	10	98108077	98108077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98108077G>A	uc001kmj.3	-	4	657	c.218C>T	c.(217-219)tCa>tTa	p.S73L	OPALIN_uc010qor.2_Missense_Mutation_p.S63L|OPALIN_uc001kmi.3_Missense_Mutation_p.S63L|OPALIN_uc001kmk.3_Missense_Mutation_p.S50L|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						ATCAATTTCTGAAATTTCACA	0.323000														34			12		0	0	0.001855	0	0
OR4D10	390197	broad.mit.edu	37	11	59245505	59245505	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59245505C>T	uc001nnz.1	+	0	603	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAATGATTTCCAACAATGGAC	0.468000														27			43		0	0	0.001951	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72024	72024	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000209.1:72024C>T	uc002qui.2	+	2	185	c.174C>T	c.(172-174)ttC>ttT	p.F58F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.F55F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	58	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTAACAATTTCATGCTATACA	0.527000														52			43		0	0	0.002522	0	0
OR2M7	391196	broad.mit.edu	37	1	248487180	248487180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248487180C>T	uc010pzk.2	-	0	691	c.691G>A	c.(691-693)Gga>Aga	p.G231R		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230P(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTCCCTCTCCAGATCCCATG	0.448000														241			60		0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57286357	57286357	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57286357A>C	uc002qnr.2	-	10	1665	c.1283T>G	c.(1282-1284)cTt>cGt	p.L428R	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.L224R|PEG3_uc010ygq.1_Missense_Mutation_p.L224R|PEG3_uc010etp.2_Missense_Mutation_p.L428R|PEG3_uc010ygs.1_Missense_Mutation_p.L428R|PEG3_uc002qnq.2_Missense_Mutation_p.L428R	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	579					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)		GAGATGTTGAAGAAGATGCAC	0.453000														42			18		0	0	0.006122	0	0
POU4F3	5459	broad.mit.edu	37	5	145719773	145719773	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:145719773G>A	uc003loa.2	+	1	872	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	261					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTACCGAGAGAAGAACAGCA	0.602000														53			13		0	0	0.001368	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867998	30867998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:30867998G>A	uc001rji.1	-	14	3296	c.2545C>T	c.(2545-2547)Ccc>Tcc	p.P849S	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P645S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P516S|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P799S|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P848S|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P515S|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P793S|CAPRIN2_uc001rjm.1_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	849					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTAGGTCTGGGAAACACATTC	0.438000														44			25		0	0	0.005443	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43018724	43018724	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43018724G>A	uc001jab.4	-	3		c.2530C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		TCCAATTTGAGGATCACTTCT	0.428000														17			10		0	0	0.000673	0	0
FIBIN	387758	broad.mit.edu	37	11	27016309	27016309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:27016309C>T	uc001mrd.3	+	0	682	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	79						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTGAGCCTCACCCTGCGGGAG	0.652000														5			8		0	0	0.003080	0	0
ANKS6	203286	broad.mit.edu	37	9	101498825	101498825	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101498825G>A	uc004ayu.3	-	14	2613	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	ANKS6_uc004ayv.2_Silent_p.A327A|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.A563A	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	864										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTTGCCAGGGGCCCTGGTGT	0.577000														9			3		0	0	0.000248	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882609	228882609	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228882609C>T	uc002vpq.2	-	6	3008	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	SPHKAP_uc002vpp.2_Silent_p.G987G|SPHKAP_uc010zlx.1_Silent_p.G987G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	987						cytoplasm	protein binding	p.Q986*(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGGTCCCGCTCCCCTGGCTCT	0.532000														36			18		0	0	0.001523	0	0
OR6C75	390323	broad.mit.edu	37	12	55759079	55759079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55759079G>A	uc010spk.2	+	0	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTTCCTTCGGAACTTCTCA	0.433000														345			35		0	0	0.005524	0	0
USH2A	7399	broad.mit.edu	37	1	215847641	215847641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:215847641G>A	uc001hku.1	-	62	13999	c.13612C>T	c.(13612-13614)Cca>Tca	p.P4538S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4538	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCAATTTTGGAGGTTCCATC	0.498000										HNSCC(13;0.011)				61			41		0	0	0.007835	0	0
THSD7B	80731	broad.mit.edu	37	2	138208523	138208523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:138208523G>A	uc002tva.1	+	13	2975	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	THSD7B_uc010zbj.1_Intron	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)		GTGAGAATTCGATCCAAATGG	0.413000														10			19		0	0	0.001216	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														53			22		0	0	0.002780	0	0
OR5B3	441608	broad.mit.edu	37	11	58170843	58170843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170843C>T	uc010rkf.2	-	0	40	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	14					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)				TTGGTTAGTCCTAGAAGAATG	0.388000														45			33		0	0	0.005524	0	0
TIFAB	497189	broad.mit.edu	37	5	134785608	134785608	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134785608G>A	uc003law.4	-	1	223	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.L8L	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	8										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCACTCGCAGGACGGTGAGG	0.607000														36			57		0	0	0.003610	0	0
ZNF618	114991	broad.mit.edu	37	9	116812253	116812253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:116812253C>T	uc004bid.3	+	14	2770	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	ZNF618_uc004bic.3_Nonsense_Mutation_p.Q798*|ZNF618_uc011lxi.2_Nonsense_Mutation_p.Q858*|ZNF618_uc011lxj.2_Nonsense_Mutation_p.Q859*|ZNF618_uc010mvb.3_Nonsense_Mutation_p.Q481*	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGATCTCTTCCAGTACTGGTC	0.577000														33			26		0	0	0.003954	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604065	54604065	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54604065C>T	uc003dhf.3	+	7	870	c.822C>T	c.(820-822)atC>atT	p.I274I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I180I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.I8I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	274	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCTGACTATCGCGAAGCAAA	0.463000														46			54		0	0	0.003610	0	0
SERINC4	619189	broad.mit.edu	37	15	44087899	44087899	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:44087899C>T	uc001zte.1	-	8	1076	c.444G>A	c.(442-444)gtG>gtA	p.V148V	ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsz.4_3'UTR|SERF2_uc021skb.1_3'UTR|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc010bdq.3_3'UTR|SERF2_uc021skc.1_3'UTR|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_3'UTR|MIR1282_uc021ske.1_5'Flank|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Silent_p.V148V	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	392					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTGCCTCCACTGTTTCAG	0.463000														72			14		0	0	0.003163	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739724	46739724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46739724C>T	uc021vgv.1	-	0	127	c.127G>A	c.(127-129)Gga>Aga	p.G43R	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.G43R	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	43					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACGAGGCGTCCTTTCTCAATG	0.438000														57			77		0	0	0.003610	0	0
IQSEC3	440073	broad.mit.edu	37	12	274933	274933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:274933G>A	uc001qhw.2	+	10	2848	c.2848G>A	c.(2848-2850)Ggc>Agc	p.G950S	IQSEC3_uc001qhu.1_Missense_Mutation_p.G647S	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	950	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCGCTCTCGGGCTCCGAGAA	0.612000														26			6		0	0	0.003080	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20232983	20232983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:20232983G>A	uc002rdm.3	-	6	1193	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_014713	NP_055528	Q15012	LAP4A_HUMAN	Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.	229	Poly-Pro.				transport	Golgi apparatus|endomembrane system|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAGTAAGGAGGTGGTGGT	0.363000														47			19		0	0	0.002299	0	0
GABPB2	126626	broad.mit.edu	37	1	151062929	151062929	+	Silent	SNP	C	T	T	rs145271934		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151062929C>T	uc001ewr.2	+	2	487	c.156C>T	c.(154-156)tcC>tcT	p.S52S	GABPB2_uc010pcp.1_Silent_p.S68S|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	52					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTCATTATTCCACAGCAGAAG	0.507000														18			45		0	0	0.003610	0	0
SYNJ1	8867	broad.mit.edu	37	21	34004071	34004071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:34004071G>A	uc002yqh.2	-	31	4073	c.4073C>T	c.(4072-4074)cCa>cTa	p.P1358L	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1272L|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1319	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AATCTTTAATGGTGATTCTCT	0.393000														14			9		0	0	0.006214	0	0
PSG9	5678	broad.mit.edu	37	19	43772110	43772110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43772110C>T	uc002owd.4	-	1	355	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG9_uc002owe.4_Missense_Mutation_p.G86S|PSG9_uc010xwm.2_Missense_Mutation_p.G86S|PSG9_uc002owf.4_Missense_Mutation_p.G86S|PSG9_uc002owg.2_Missense_Mutation_p.G86S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	86	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATTATTTTACCATCAACTATA	0.428000														181			45		0	0	0.003214	0	0
CHRDL1	91851	broad.mit.edu	37	X	109964648	109964648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:109964648G>A	uc004eou.4	-	4	761	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	CHRDL1_uc004eov.3_Missense_Mutation_p.R132W|CHRDL1_uc004eow.3_Missense_Mutation_p.R137W|CHRDL1_uc010nps.3_Missense_Mutation_p.R137W|CHRDL1_uc011mss.2_Intron	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	131	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.R137Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGTTGCCGATTCTGAAAG	0.483000														91			75		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076840	9076840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9076840G>A	uc002mkp.3	-	2	10810	c.10606C>T	c.(10606-10608)Cca>Tca	p.P3536S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3536L(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						GAGATACCTGGAGTAGGAGCT	0.532000														44			96		0	0	0.003610	0	0
PGM3	5238	broad.mit.edu	37	6	83896745	83896745	+	Missense_Mutation	SNP	G	T	T	rs142142489	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:83896745G>T	uc011dyz.2	-	4	692	c.523C>A	c.(523-525)Cta>Ata	p.L175I	PGM3_uc003pju.2_Missense_Mutation_p.L147I|PGM3_uc003pjw.3_Missense_Mutation_p.L66I|PGM3_uc021zcd.1_Missense_Mutation_p.L147I	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	147					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TGACCTCCTAGAACAGTCACA	0.323000														8			39		2.37825e-27	3.78758e-27	0.002522	1	0
CHD3	1107	broad.mit.edu	37	17	7798840	7798840	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7798840T>C	uc002gjd.2	+	9	1866	c.1864T>C	c.(1864-1866)Tcc>Ccc	p.S622P	CHD3_uc002gje.2_Missense_Mutation_p.S563P|CHD3_uc002gjf.2_Missense_Mutation_p.S563P|CHD3_uc002gjg.1_Missense_Mutation_p.S391P	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	563					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGGCACTGCTCCTGGGCCAA	0.537000														69			15		0	0	0.004007	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345187	135345187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135345187C>T	uc001lnj.1	+	2	469	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	CYP2E1_uc001lnk.1_Missense_Mutation_p.R9W|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	146					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CAATGAGAGCCGGATCCAGAG	0.567000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					29			28		0	0	0.006320	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113140352	113140352	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:113140352G>A	uc001vse.1	-	21	2866	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	TUBGCP3_uc010tjq.1_Silent_p.L883L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	893					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAGACACACGGAGCCTGGGCT	0.587000														1			8		0	0	0.000673	0	0
DOCK1	1793	broad.mit.edu	37	10	129160391	129160391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129160391C>T	uc010qun.2	+	32	3411	c.3347C>T	c.(3346-3348)cCc>cTc	p.P1116L	DOCK1_uc001ljt.3_Missense_Mutation_p.P1095L|DOCK1_uc009yaq.3_Missense_Mutation_p.P90L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1095	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACATTAATTCCCGAGACGGAG	0.413000														17			4		0	0	0.000602	0	0
FRMD6	122786	broad.mit.edu	37	14	52194676	52194676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:52194676C>T	uc001wzd.3	+	13	2083	c.1798C>T	c.(1798-1800)Cca>Tca	p.P600S	FRMD6_uc001wzb.3_Missense_Mutation_p.P592S|FRMD6_uc001wzc.3_Missense_Mutation_p.P592S|FRMD6_uc001wze.3_Missense_Mutation_p.P523S|FRMD6_uc001wzf.3_Missense_Mutation_p.P293S|FRMD6_uc001wzg.3_Missense_Mutation_p.P242S	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	600						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGATGCTTTTCCAGTCAAAAG	0.463000														16			11		0	0	0.000673	0	0
TMC5	79838	broad.mit.edu	37	16	19455470	19455470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19455470C>T	uc002dgc.4	+	3	1605	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	TMC5_uc010vaq.2_Missense_Mutation_p.L286F|TMC5_uc002dgb.4_Missense_Mutation_p.L286F|TMC5_uc010var.2_Missense_Mutation_p.L286F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	286						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGTGGGCAGTCTTTGGGGAGA	0.498000														47			46		0	0	0.003610	0	0
OR4K13	390433	broad.mit.edu	37	14	20502760	20502760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20502760G>A	uc010tkz.2	-	0	158	c.158C>T	c.(157-159)tCg>tTg	p.S53L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGAAGGAGCGAATCAAAGGT	0.423000														21			18		0	0	0.007413	0	0
ACVRL1	94	broad.mit.edu	37	12	52309926	52309926	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52309926C>T	uc001rzj.3	+	7	1438	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ACVRL1_uc001rzk.3_Silent_p.I385I|ACVRL1_uc010snm.2_Silent_p.I211I	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	385	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)	ACGAGCAGATCCGCACGGACT	0.607000														24			56		0	0	0.003610	0	0
STS	412	broad.mit.edu	37	X	7177712	7177712	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:7177712G>A	uc004cry.4	+	4	965	c.720G>A	c.(718-720)ctG>ctA	p.L240L		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	240					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCGGCCCCTGAACTGCTTCA	0.527000									Ichthyosis					26			29		0	0	0.005443	0	0
DSP	1832	broad.mit.edu	37	6	7568687	7568687	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7568687C>T	uc003mxp.1	+	10	1563	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	DSP_uc003mxq.1_Silent_p.I428I|DSP_uc021yle.1_Silent_p.I428I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	428	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GAGAGAAAATCCTTGAATACA	0.378000														26			54		0	0	0.003610	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25500	25500	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000241.1:25500G>A	uc011mgv.2	-	3		c.492C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AGCTCCCAGGGTAAAAAGACC	0.418000														331			44		0	0	0.002852	0	0
FAM13C	220965	broad.mit.edu	37	10	61043173	61043174	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61043173_61043174GG>AT	uc010qif.1	-	5	673_674	c.607_608CC>AT	c.(607-609)ccg>ATg	p.P203M	FAM13C_uc010qid.2_Missense_Mutation_p.P98M|FAM13C_uc001jkn.3_Missense_Mutation_p.P181M|FAM13C_uc001jko.3_Missense_Mutation_p.P181M|FAM13C_uc010qie.2_Missense_Mutation_p.P98M|FAM13C_uc001jkp.3_Missense_Mutation_p.P98M	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	181										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTGGCGCCGGGTCCTTGACT	0.525000														75			93		0	0	0.004672	0	0
HDAC9	9734	broad.mit.edu	37	7	18801862	18801862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18801862C>T	uc003sui.3	+	13	2167	c.2126C>T	c.(2125-2127)cCc>cTc	p.P709L	HDAC9_uc003sue.3_Missense_Mutation_p.P706L|HDAC9_uc011jyd.2_Missense_Mutation_p.P706L|HDAC9_uc003suh.3_Missense_Mutation_p.P706L|HDAC9_uc003suj.3_Missense_Mutation_p.P665L|HDAC9_uc003sua.1_Missense_Mutation_p.P684L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	706	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCACCAACCCCCTGGACGGA	0.502000														49			8		0	0	0.004482	0	0
CEBPE	1053	broad.mit.edu	37	14	23588290	23588291	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23588290_23588291CC>TT	uc001wiv.2	-	0	530_531	c.10_11GG>AA	c.(10-12)ggg>AAg	p.G4K		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GTAGTAGGTCCCGTGGGACATG	0.703000														7			6		0	0	0.004672	0	0
NME8	51314	broad.mit.edu	37	7	37907312	37907312	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:37907312C>T	uc003tfn.3	+	10	1002	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	210	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTGTGACTTCGAAGAGTTTG	0.388000														57			18		0	0	0.001523	0	0
PDIA6	10130	broad.mit.edu	37	2	10927411	10927411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10927411G>A	uc002rau.3	-	10	1291	c.1153C>T	c.(1153-1155)Ctc>Ttc	p.L385F	PDIA6_uc010yjg.2_Missense_Mutation_p.L382F|PDIA6_uc002rav.3_Missense_Mutation_p.L437F|PDIA6_uc010yjh.2_Missense_Mutation_p.L390F|PDIA6_uc002raw.3_Missense_Mutation_p.L433F	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	385					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AATTACCTGAGAAACTCGTTG	0.418000														49			14		0	0	0.004990	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719196	48719196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48719196G>A	uc003cun.3	-	4	710	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	NCKIPSD_uc003cum.3_Missense_Mutation_p.P199S|NCKIPSD_uc010hkh.2_Missense_Mutation_p.P206S	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	206	Pro-rich.|Ser/Thr-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCCCGGAGGGCATGGTGTTG	0.622000														2			6		0	0	0.001984	0	0
CACNA1F	778	broad.mit.edu	37	X	49071988	49071988	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:49071988G>A	uc004dnb.3	-	27	3347	c.3285C>T	c.(3283-3285)gcC>gcT	p.A1095A	CACNA1F_uc010nip.3_Silent_p.A1084A	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1095	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGCATCGATGGCCTTGTATA	0.527000														2			9		0	0	0.000673	0	0
C14orf21	161424	broad.mit.edu	37	14	24774214	24774214	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24774214C>T	uc001wol.1	+	9	1887	c.1824C>T	c.(1822-1824)acC>acT	p.T608T	C14orf21_uc001wom.1_Silent_p.T159T	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	608							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CCTTGACTACCTTCCTAAAGC	0.552000														37			9		0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57325127	57325127	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57325127C>T	uc002qnu.2	-	6	5034	c.4683G>A	c.(4681-4683)gaG>gaA	p.E1561E	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_Silent_p.E1532E|PEG3_uc002qnv.2_Silent_p.E1561E|PEG3_uc002qnw.2_Silent_p.E1437E|PEG3_uc002qnx.2_Silent_p.E1435E|PEG3_uc010etr.2_Silent_p.E1561E|PEG3-AS1_uc010ets.2_Non-coding_Transcript	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1561					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)		TGAAGTACTTCTCATCAGCTT	0.542000														75			22		0	0	0.001882	0	0
MYH8	4626	broad.mit.edu	37	17	10299737	10299737	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10299737C>T	uc002gmm.2	-	32	4658	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1521					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						GCTTTCCTCCCTCTGCAATCT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					9			20		0	0	0.001882	0	0
MORC2	22880	broad.mit.edu	37	22	31328894	31328894	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:31328894G>C	uc003aje.1	-	22	3682	c.2318C>G	c.(2317-2319)aCg>aGg	p.T773R		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	835							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTTGGTGTCGTGTCTGTGGG	0.622000														70			156		0	0	0.003610	0	0
TEX14	56155	broad.mit.edu	37	17	56643154	56643154	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56643154C>T	uc010dcz.2	-	27	4174	c.4056G>A	c.(4054-4056)acG>acA	p.T1352T	TEX14_uc002iwr.2_Silent_p.T1346T|TEX14_uc002iws.2_Silent_p.T1306T|TEX14_uc010dda.2_Silent_p.T1086T	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1352						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGCAACACCGTGGATGAGC	0.478000														9			13		0	0	0.003163	0	0
GPX6	257202	broad.mit.edu	37	6	28472213	28472213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28472213C>T	uc021yrx.1	-	4	572	c.522G>A	c.(520-522)atG>atA	p.M174I	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	174					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.M174T(1)		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)	CATGGACCTTCATGGGCTCCC	0.498000														56			13		0	0	0.002450	0	0
KRT78	196374	broad.mit.edu	37	12	53242527	53242527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53242527C>T	uc001sbc.1	-	0	252	c.188G>A	c.(187-189)gGg>gAg	p.G63E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	63	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAACCGCACCCCCAGCCTACC	0.642000														13			9		0	0	0.004482	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697595	47697595	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47697595G>A	uc002zir.1	-	4	1740	c.1704C>T	c.(1702-1704)caC>caT	p.H568H		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	568					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCGAATTGGTGGGCCTTTA	0.547000														71			17		0	0	0.001216	0	0
FTSJ1	24140	broad.mit.edu	37	X	48336904	48336904	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48336904C>T	uc004djo.1	+	2	512	c.189C>T	c.(187-189)atC>atT	p.I63I	FTSJ1_uc004djn.1_Silent_p.I63I|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	63					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GCCAGAAGATCGGGTAAGTGT	0.632000														1			15		0	0	0.006122	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891299	131891299	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131891299G>A	uc004bxm.2	+	4	644	c.357G>A	c.(355-357)ctG>ctA	p.L119L	PPP2R4_uc004bxl.2_Silent_p.L84L|PPP2R4_uc011mbo.2_Silent_p.L119L|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.L84L|PPP2R4_uc004bxo.2_Intron|PPP2R4_uc011mbp.2_Silent_p.L55L|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.2_Silent_p.L49L	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	119					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	p.T118M(1)		breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TCAACACGCTGGACAGGTGGA	0.542000														30			11		0	0	0.000978	0	0
SACS	26278	broad.mit.edu	37	13	23907771	23907771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23907771G>A	uc001uon.2	-	9	10833	c.10244C>T	c.(10243-10245)tCc>tTc	p.S3415F	SACS_uc001uoo.2_Missense_Mutation_p.S3268F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3415					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCACTGATGGATTTATAGCA	0.363000														50			27		0	0	0.003954	0	0
PCLO	27445	broad.mit.edu	37	7	82582368	82582368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82582368G>A	uc003uhx.2	-	4	8190	c.7901C>T	c.(7900-7902)tCt>tTt	p.S2634F	PCLO_uc003uhv.2_Missense_Mutation_p.S2634F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2565					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						CTGTTCTGAAGAAATTGGAAT	0.453000														11			137		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196694310	196694310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196694310C>T	uc001gtj.4	+	11	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	586	Sushi 10.				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						CAAGAAAGACCAGTATAAAGT	0.353000														19			29		0	0	0.005443	0	0
MCM7	4176	broad.mit.edu	37	7	99693582	99693582	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:99693582G>A	uc003usw.1	-	10	1920	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MCM7_uc003usv.1_Silent_p.A294A|MCM7_uc003usx.1_Silent_p.A294A|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	470	MCM.				DNA strand elongation involved in DNA replication|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|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TGCCGGCCTTGGCAATGGAGA	0.622000														63			21		0	0	0.001216	0	0
WASF3	10810	broad.mit.edu	37	13	27256995	27256995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:27256995C>T	uc001uqv.3	+	8	1460	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	WASF3_uc001uqw.3_Missense_Mutation_p.S409F	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	412					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGTCCCGGGTCTTCTCTTTCG	0.687000														41			27		0	0	0.007291	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776579	101776579	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:101776579C>T	uc001pgl.3	-	4	838	c.242_splice	c.e4-1	p.R81_splice		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	81					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGCAAATTTCCTTAACCATAA	0.274000														29			5		0	0	0.000602	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066866	40066866	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40066866C>T	uc003ayc.3	+	25	4446	c.4446C>T	c.(4444-4446)tcC>tcT	p.S1482S	CACNA1I_uc003ayd.3_Silent_p.S1447S|CACNA1I_uc003aye.3_Silent_p.S1397S|CACNA1I_uc003ayf.3_Silent_p.S1362S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1482					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCCACTCCATGTGCACCA	0.587000														134			32		0	0	0.004878	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44795866	44795866	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44795866C>T	uc003tlr.3	+	1	141	c.18C>T	c.(16-18)ccC>ccT	p.P6P	ZMIZ2_uc003tlq.3_Silent_p.P6P|ZMIZ2_uc003tls.3_Silent_p.P6P	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	6					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCATGAACCCCATGAAACCTG	0.607000														78			23		0	0	0.007291	0	0
TLE4	7091	broad.mit.edu	37	9	82324572	82324572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:82324572C>T	uc004ald.3	+	14	2222	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	TLE4_uc004alc.3_Missense_Mutation_p.P433L|TLE4_uc010mpr.3_Missense_Mutation_p.P312L|TLE4_uc004ale.3_Missense_Mutation_p.P70L|TLE4_uc011lsq.2_Missense_Mutation_p.P401L|TLE4_uc010mps.3_Missense_Mutation_p.P357L|TLE4_uc004alf.3_Missense_Mutation_p.P372L	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATGCGTGTGCCAGCAATACCT	0.458000														21			13		0	0	0.004007	0	0
FAM188B	84182	broad.mit.edu	37	7	30825437	30825437	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:30825437C>T	uc003tbt.3	+	3	569	c.492C>T	c.(490-492)ccC>ccT	p.P164P	FAM188B_uc010kwe.3_Silent_p.P135P	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	164										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGTAAGCCCATGCAGACGG	0.448000														118			36		0	0	0.003271	0	0
KIAA1468	57614	broad.mit.edu	37	18	59855179	59855179	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:59855179G>T	uc002lil.3	+	0	656	c.441G>T	c.(439-441)atG>atT	p.M147I	PIGN_uc021ulc.1_5'Flank|PIGN_uc021uld.1_5'Flank|KIAA1468_uc002lik.1_Missense_Mutation_p.M147I|KIAA1468_uc010xel.2_Missense_Mutation_p.M147I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	147							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CGCCGGGGATGGGGGCGCCAG	0.672000											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			5		0.00116845	0.00183067	0.001168	1	0
DENND4B	9909	broad.mit.edu	37	1	153906740	153906740	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153906740G>A	uc001fdd.1	-	18	3213	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	938										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCTGGCGCTGAAGAGGGCGA	0.612000														4			7		0	0	0.004482	0	0
DUSP5	1847	broad.mit.edu	37	10	112266805	112266805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:112266805G>A	uc001kzd.3	+	2	896	c.641G>A	c.(640-642)cGg>cAg	p.R214Q		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	214	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GTCTCCCGACGGACCTCCGAG	0.552000														90			75		0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158390395	158390395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158390395G>A	uc010pii.2	-	0	262	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q88H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTCTTCTTCTGGGACAGCAGG	0.483000														84			67		0	0	0.003610	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488527	84488527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84488527G>A	uc010chj.3	+	20	2173	c.2084G>A	c.(2083-2085)gGg>gAg	p.G695E	ATP2C2_uc002fhx.3_Missense_Mutation_p.G695E|ATP2C2_uc002fhy.3_Missense_Mutation_p.G712E|ATP2C2_uc002fhz.3_Missense_Mutation_p.G544E	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	695					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGGCAGACAGGGACGGACGTC	0.562000														46			12		0	0	0.001855	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022196	59022196	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:59022196G>A	uc002qtc.2	-	1	900	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	264					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCAGCCCCCAGAGCCCCCACC	0.642000														24			13		0	0	0.002450	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000														175			33		0	0	0.003755	0	0
FGGY	55277	broad.mit.edu	37	1	59844482	59844482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:59844482C>T	uc009wac.3	+	4	739	c.527C>T	c.(526-528)tCg>tTg	p.S176L	FGGY_uc001czg.2_Missense_Mutation_p.S64L|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.S176L|FGGY_uc001czl.4_Missense_Mutation_p.S88L	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	176					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACTTCTTATCGTGGAAGGCA	0.393000														25			10		0	0	0.001368	0	0
DNMBP	23268	broad.mit.edu	37	10	101731860	101731860	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101731860G>A	uc001kqj.2	-	1	114	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	8	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAATGGCTCGAACCACTGAG	0.403000														84			37		0	0	0.004289	0	0
HYDIN	54768	broad.mit.edu	37	16	70993685	70993685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:70993685C>T	uc002ezr.3	-	38	6155	c.6004G>A	c.(6004-6006)Gaa>Aaa	p.E2002K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2003										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)				TCTCCAACTTCCTCCATGGAG	0.502000														25			8		0	0	0.004990	0	0
GPR78	27201	broad.mit.edu	37	4	8588793	8588793	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:8588793C>T	uc003glk.3	+	2	1288	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	265					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCGGAGCTCGTGCCCTTCG	0.637000														8			6		0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13793771	13793771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13793771C>T	uc003jfd.2	-	48	8119	c.8077G>A	c.(8077-8079)Gag>Aag	p.E2693K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2693	AAA 3 (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)					CTGGTGAACTCCCCAGGCTTC	0.443000									Kartagener syndrome					43			88		0	0	0.003610	0	0
HELB	92797	broad.mit.edu	37	12	66709072	66709072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66709072C>T	uc001sti.2	+	5	1937	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	637					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCTGAAAGATCTTTTTGAGAC	0.353000														259			23		0	0	0.003954	0	0
OR11H6	122748	broad.mit.edu	37	14	20691874	20691874	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20691874C>T	uc010tlc.2	+	0	6	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F2L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		tccaaatgttctttattattC	0.378000														41			30		0	0	0.001512	0	0
HCN1	348980	broad.mit.edu	37	5	45396809	45396809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:45396809C>T	uc003jok.3	-	3	1040	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	339						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D339N(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCCCAAGAATCATTCTGCAAC	0.418000														62			14		0	0	0.003163	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920149	154920149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154920149G>A	uc001ffr.3	-	7	766	c.707C>T	c.(706-708)cCc>cTc	p.P236L	PBXIP1_uc001ffs.3_Missense_Mutation_p.P207L|PBXIP1_uc010pep.2_Missense_Mutation_p.P81L	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	236					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCACCTCGGGGTCTGGGAG	0.632000														77			18		0	0	0.002299	0	0
XIRP2	129446	broad.mit.edu	37	2	168102538	168102538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168102538G>A	uc002udx.3	+	8	4725	c.4636G>A	c.(4636-4638)Gaa>Aaa	p.E1546K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1371K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1324K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1371					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						AGAAAAGATAGAAATTATTGG	0.373000														34			10		0	0	0.000978	0	0
HNF1A	6927	broad.mit.edu	37	12	121434148	121434148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121434148C>T	uc001tzg.3	+	4	1062	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.P347S|HNF1A_uc001tzf.3_Missense_Mutation_p.P347S|HNF1A_uc010szn.2_Missense_Mutation_p.P347S|HNF1A_uc021rfa.1_Missense_Mutation_p.P347S|HNF1A_uc021rfb.1_Missense_Mutation_p.P219S|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	347					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGTCTACACCCCTCCACCA	0.592000									Hepatic Adenoma, Familial Clustering of					83			241		0	0	0.003610	0	0
ARID5B	84159	broad.mit.edu	37	10	63850952	63850952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:63850952C>T	uc001jlt.2	+	9	2186	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	ARID5B_uc001jlu.2_Missense_Mutation_p.S334F	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	577					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAACAAGAATCCAAACTGTGC	0.547000														36			17		0	0	0.001882	0	0
LRIT2	340745	broad.mit.edu	37	10	85984534	85984534	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:85984534G>A	uc010qmc.2	-	1	455	c.447C>T	c.(445-447)ttC>ttT	p.F149F	LRIT2_uc001kcy.3_Silent_p.F149F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	149						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGCTGACCAAGAATTGAAGAG	0.532000														49			41		0	0	0.007835	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433746	22433746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22433746C>T	uc021rpm.1	+	0	49	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		ATGATGAAATCCTTGAGAGTT	0.348000														74			15		0	0	0.006122	0	0
TPTE	7179	broad.mit.edu	37	21	10920107	10920107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10920107G>A	uc002yip.1	-	18	1515	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q365*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q345*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q245*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	383	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q365*(1)|p.Q383*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTACTCCCTGAAATTTTTCG	0.378000														60			8		0	0	0.004482	0	0
SENP2	59343	broad.mit.edu	37	3	185337194	185337194	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185337194T>C	uc003fpn.3	+	12	1521	c.1350T>C	c.(1348-1350)ggT>ggC	p.G450G	SENP2_uc011brv.2_Silent_p.G440G|SENP2_uc011brw.2_Silent_p.G263G	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	450	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGTCTGGGGGTTACCAAGCAG	0.393000														249			278		0	0	0.003610	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751162	19751162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:19751162C>T	uc009zzj.3	-	3	1066	c.961G>A	c.(961-963)Ggg>Agg	p.G321R		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	321					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G321R(2)|p.R320R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACCACATCCCCCCTGTACAAC	0.552000														34			37		0	0	0.005524	0	0
OR5R1	219479	broad.mit.edu	37	11	56184763	56184763	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56184763T>G	uc010rji.2	-	0	946	c.946A>C	c.(946-948)Aca>Cca	p.T316P	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTTAAAAATGTTAATATCTGT	0.299000														4			10		0	0	0.006214	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058033	46058033	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:46058033C>T	uc002zfq.3	+	0	761	c.699C>T	c.(697-699)ccC>ccT	p.P233P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	233						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TCTGCCGCCCCGTGTGCTCCC	0.692000														24			54		0	0	0.003610	0	0
OR2L8	391190	broad.mit.edu	37	1	248112235	248112235	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248112235T>C	uc001idt.1	+	0	76	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGACCTTTTCTTCTTCATTCT	0.393000														76			122		0	0	0.003610	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718802	108718802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:108718802C>T	uc022cch.1	-	0	449	c.364G>A	c.(364-366)Gga>Aga	p.G122R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G122R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	122					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAATAAATCCTGAGGCCATC	0.478000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			116		0	0	0.003610	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802353	128802354	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:128802353_128802354CC>TT	uc003vop.2	+	2	388_389	c.279_280CC>TT	c.(277-282)ctcctg>ctTTtg	p.93_94LL>LL		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACATCTGCCTCCTGCAGACGGT	0.614000														53			7		0	0	0.004672	0	0
SLC9A9	285195	broad.mit.edu	37	3	143297500	143297500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:143297500G>A	uc003evn.3	-	6	1030	c.821C>T	c.(820-822)tCt>tTt	p.S274F	SLC9A9_uc011bnk.2_Missense_Mutation_p.S148F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	274					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATTCCCCACAGACTGGAAGAA	0.458000														41			16		0	0	0.003163	0	0
JMJD4	65094	broad.mit.edu	37	1	227923013	227923013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227923013C>T	uc001hrb.3	-	0	100	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'UTR|SNAP47_uc001hre.3_5'UTR|SNAP47_uc001hrf.2_5'UTR|JMJD4_uc001hrc.3_Missense_Mutation_p.E34K	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	34								p.E34K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCCTCACTTCCGCCGGAGCG	0.711000														7			13		0	0	0.001855	0	0
LIN28A	79727	broad.mit.edu	37	1	26752889	26752889	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26752889C>T	uc001bmj.3	+	3	684	c.570C>T	c.(568-570)taC>taT	p.Y190Y	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	190					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGCCAACCTACTTTCGAGAGG	0.547000														25			17		0	0	0.001882	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336479	115336479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115336479C>T	uc011lwx.1	+	1	294	c.119C>T	c.(118-120)tCc>tTc	p.S40F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S40F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	40										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCTGAAGGTTCCCATGGGAAC	0.517000														19			11		0	0	0.001368	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711742	140711742	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140711742G>T	uc003lji.2	+	0	1491	c.1491G>T	c.(1489-1491)caG>caT	p.Q497H	PCDHGC5_uc011dan.2_Missense_Mutation_p.Q497H	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	499	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q497*(1)		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)			ACACTATCCAGGGGGCACCCC	0.542000														135			7		0.00307968	0.0048155	0.003080	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140740132	140740132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140740132G>A	uc003ljs.2	+	0	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	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.E144K	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	144	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTGGCGAATCCACTAA	0.368000														55			19		0	0	0.001882	0	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:135618348G>A	uc004ezy.3	+	1	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000														34			29		0	0	0.002445	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025676	176025676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176025676G>A	uc003meo.1	-	1	1335	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L	GPRIN1_uc021yif.1_Missense_Mutation_p.P387L	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	387						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGACACAGGACGCCCCTC	0.527000														62			8		0	0	0.006214	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215589	20215589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20215589G>A	uc010tkt.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTGGCTTGATGAAAAAAGAAC	0.308000														141			19		0	0	0.006122	0	0
GALNT5	11227	broad.mit.edu	37	2	158157239	158157239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:158157239C>T	uc002tzg.3	+	6	2422	c.2167C>T	c.(2167-2169)Cat>Tat	p.H723Y	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	723	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCGAGTGGGCCATATATTCAG	0.458000														56			28		0	0	0.002096	0	0
CUX1	1523	broad.mit.edu	37	7	101926061	101926061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:101926061G>A	uc003uyt.3	+	21	2087	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	CUX1_uc003uyw.3_Missense_Mutation_p.A608T|CUX1_uc003uyv.3_Missense_Mutation_p.A638T|CUX1_uc003uyu.3_Missense_Mutation_p.A652T|CUX1_uc011kkn.2_Missense_Mutation_p.A615T|SH2B2_uc011kko.2_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A654T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCTTCTGCGCCAAGAAGTG	0.662000														42			7		0	0	0.000673	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260882	107260883	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:107260882_107260883AG>GA	uc010rvp.2	-	11	1819_1820	c.1789_1790CT>TC	c.(1789-1791)cta>TCa	p.L597S	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	597							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATTTAGGCTTAGATTATCATCA	0.322000														19			15		0	0	0.004672	0	0
CLC	1178	broad.mit.edu	37	19	40224958	40224958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40224958C>T	uc002omh.3	-	2	345	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	90	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATGCTCAGTTCAAATTCTTGG	0.562000														54			28		0	0	0.006320	0	0
HYDIN	54768	broad.mit.edu	37	16	70889126	70889126	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:70889126G>A	uc002ezr.3	-	72	12496	c.12345C>T	c.(12343-12345)ttC>ttT	p.F4115F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4116										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)				AGGAAAAATCGAACCCCTGCT	0.542000														57			50		0	0	0.003610	0	0
ALG13	79868	broad.mit.edu	37	X	110951444	110951444	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:110951444T>C	uc011msy.2	+	3	674	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_uc011msw.2_Silent_p.A113A|ALG13_uc011msx.2_Silent_p.A87A|ALG13_uc011msz.2_Silent_p.A113A|ALG13_uc011mta.2_Silent_p.A87A|ALG13_uc011mtb.2_Silent_p.A87A	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	191					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483000														45			3		0	0	0.000248	0	0
C9orf172	389813	broad.mit.edu	37	9	139741099	139741099	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139741099C>T	uc011meh.2	+	0	2233	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	745										endometrium(2)|large_intestine(1)|lung(6)	9						TGTCGGCTTCCTGTCGCGCGG	0.701000														8			4		0	0	0.000248	0	0
CASR	846	broad.mit.edu	37	3	121981248	121981248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121981248G>A	uc003eew.4	+	3	1804	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	CASR_uc003eev.4_Missense_Mutation_p.E456K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	456					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGAAAGTTGAGGCGTGGCA	0.463000														49			19		0	0	0.002299	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053128	17053128	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17053128C>G	uc003wxe.3	+	3	765	c.368C>G	c.(367-369)tCt>tGt	p.S123C		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	123						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGGACCATGTCTGGAGGTAAA	0.418000														32			10		0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000														32			46		0	0	0.002222	0	0
GRIK3	2899	broad.mit.edu	37	1	37356674	37356674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:37356674C>T	uc001caz.2	-	1	274	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	GRIK3_uc001cba.1_Missense_Mutation_p.G47S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	47					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)	GCGTTGGGGCCGTCCGCATAC	0.512000														52			47		0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11732344	11732344	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:11732344C>T	uc003jfa.1	-	1	223	c.78G>A	c.(76-78)gaG>gaA	p.E26E	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	26					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACTCGTCTTCTCTGAGGCTG	0.507000														77			17		0	0	0.007413	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927893	13927894	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13927893_13927894CC>TT	uc002god.1	+	0		c.79_80CC>TT								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		GGAGTGAGAGCCTTTTCTGACG	0.564000														17			6		0	0	0.004672	0	0
KIF3B	9371	broad.mit.edu	37	20	30919041	30919041	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30919041G>A	uc002wxq.3	+	8	2343	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	KIF3B_uc010ztw.2_Silent_p.R659R	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	721	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAGTGGAAGGAAGTCGGGAT	0.483000														80			53		0	0	0.003610	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006834	29006834	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29006834C>T	uc002rmg.3	+	5	742	c.582C>T	c.(580-582)gtC>gtT	p.V194V	PPP1CB_uc010ymj.2_Silent_p.V166V|PPP1CB_uc010yml.2_Silent_p.V166V|PPP1CB_uc002rmh.3_Silent_p.V194V|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	194					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTACTGATGTCCCTGATACAG	0.348000														19			19		0	0	0.001882	0	0
EGFR	1956	broad.mit.edu	37	7	55240814	55240814	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:55240814G>A	uc003tqk.3	+	16	2304	c.2058G>A	c.(2056-2058)agG>agA	p.R686R	EGFR_uc022adm.1_Silent_p.R686R|EGFR_uc010kzg.2_Silent_p.R641R|EGFR_uc022adn.1_Silent_p.R641R|EGFR_uc011kco.2_Silent_p.R633R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	686					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAGGAGAGGGAGGTGAGTG	0.647000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				33			43		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40710652	40710652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:40710652C>T	uc002xkg.3	-	29	4326	c.4142G>A	c.(4141-4143)gGg>gAg	p.G1381E	PTPRT_uc010ggj.3_Missense_Mutation_p.G1400E|PTPRT_uc010ggi.3_Missense_Mutation_p.G584E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1381	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1380*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGGCCTCCCCCATTTCTAAA	0.493000														58			55		0	0	0.003610	0	0
DIDO1	11083	broad.mit.edu	37	20	61510928	61510928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61510928C>T	uc002ydr.2	-	15	6692	c.6380G>A	c.(6379-6381)cGg>cAg	p.R2127Q	DIDO1_uc002yds.2_Missense_Mutation_p.R2127Q	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2127	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					gtcccagtcccgctctcggct	0.721000														62			37		0	0	0.005524	0	0
KRT33A	3883	broad.mit.edu	37	17	39506774	39506774	+	Silent	SNP	C	T	T	rs61736449	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39506774C>T	uc002hwk.1	-	0	283	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784).		intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602000														47			47		0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171079971	171079971	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:171079971G>A	uc001ghi.3	+	5	771	c.660G>A	c.(658-660)gtG>gtA	p.V220V	FMO3_uc001ghh.3_Silent_p.V220V|FMO3_uc010pmb.2_Silent_p.V200V|FMO3_uc010pmc.2_Silent_p.V157V	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	220					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTCCTGGGTGATGAGCCGGG	0.468000														114			42		0	0	0.003610	0	0
NCAPG2	54892	broad.mit.edu	37	7	158456965	158456965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:158456965G>A	uc011kwe.1	-	14	1871	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	NCAPG2_uc010lqu.1_Missense_Mutation_p.H368Y|NCAPG2_uc003wnx.1_Missense_Mutation_p.H576Y|NCAPG2_uc003wnv.1_Missense_Mutation_p.H576Y|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.H77Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.H77Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	576					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAAGCAATGACGAATAACG	0.403000														13			114		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63411267	63411267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:63411267G>A	uc022byb.1	-	0	1900	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	FAM123B_uc004dvo.3_Missense_Mutation_p.R634C	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	634					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCTCTACAACGAACCTCTCGG	0.612000														3			23		0	0	0.002780	0	0
SCN5A	6331	broad.mit.edu	37	3	38674777	38674777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38674777G>A	uc021wvo.1	-	0	74	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	SCN5A_uc021wvk.1_Missense_Mutation_p.R8W|SCN5A_uc021wvl.1_Missense_Mutation_p.R8W|SCN5A_uc021wvm.1_Missense_Mutation_p.R8W|SCN5A_uc021wvn.1_Missense_Mutation_p.R8W|SCN5A_uc021wvp.1_Missense_Mutation_p.R8W|SCN5A_uc021wvq.1_Missense_Mutation_p.R8W|SCN5A_uc021wvr.1_Missense_Mutation_p.R8W|SCN5A_uc021wvs.1_Missense_Mutation_p.R8W|SCN5A_uc021wvt.1_Missense_Mutation_p.R8W|SCN5A_uc021wvu.1_Missense_Mutation_p.R8W|SCN5A_uc021wvv.1_Missense_Mutation_p.R8W|SCN5A_uc021wvx.1_Silent_p.L10L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	8					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)	CTGGTGCCCCGAGGTAATAGG	0.592000														23			13		0	0	0.006122	0	0
NALCN	259232	broad.mit.edu	37	13	101710319	101710319	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:101710319C>T	uc001vox.1	-	42	5184	c.4995G>A	c.(4993-4995)agG>agA	p.R1665R		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1665						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)					GCCCAAATTTCCTCTGGGGTT	0.562000														33			20		0	0	0.001882	0	0
ADAM19	8728	broad.mit.edu	37	5	156946919	156946919	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156946919G>A	uc003lwz.3	-	5	607	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Silent_p.F107F	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	176					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGTGCTCGAACCCACAGT	0.557000														145			17		0	0	0.004990	0	0
FRYL	285527	broad.mit.edu	37	4	48581195	48581196	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48581195_48581196GA>AT	uc003gyh.1	-	22	2927_2928	c.2322_2323TC>AT	c.(2320-2325)tctcct>tcATct	p.P775S	FRYL_uc003gyk.3_Missense_Mutation_p.P775S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGCTAATAGGAGAAGAGTTCC	0.376000														26			5		0	0	0.004672	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482170	37482170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37482170G>A	uc021ppc.1	+	26	2529	c.2430G>A	c.(2428-2430)atG>atA	p.M810I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M810I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	866						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGATGGACATGCAAACTTTCA	0.294000														38			11		0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21231534	21231534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21231534G>A	uc002red.3	-	25	8334	c.8206C>T	c.(8206-8208)Ctt>Ttt	p.L2736F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2736				Missing (in Ref. 15; AAA51758).	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)	GGTATGTGAAGGTCAGGAACT	0.408000														258			321		0	0	0.003610	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994597	57994597	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57994597C>T	uc001sou.3	+	7	948	c.817C>T	c.(817-819)Cta>Tta	p.L273L	PIP4K2C_uc001sot.3_Silent_p.L273L|PIP4K2C_uc010srs.2_Silent_p.L255L|PIP4K2C_uc010srt.2_Silent_p.L225L	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	273	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTCTCAGTTTCTAGTGCAGCT	0.537000														769			59		0	0	0.003610	0	0
C16orf89	146556	broad.mit.edu	37	16	5110325	5110325	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:5110325C>T	uc010bud.3	-	2	708	c.471G>A	c.(469-471)gaG>gaA	p.E157E	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.E157E	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	157						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CGTCACTTCTCTCCTCTGAGA	0.602000														22			15		0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228505743	228505743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228505743G>A	uc009xez.1	+	52	14044	c.14000G>A	c.(13999-14001)gGg>gAg	p.G4667E	OBSCN_uc001hsn.3_Missense_Mutation_p.G4667E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4667	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A4667A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCGGTGGGCGGTTCGAG	0.627000														45			45		0	0	0.003610	0	0
USP6NL	9712	broad.mit.edu	37	10	11505008	11505009	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:11505008_11505009CC>TT	uc001iks.1	-	13	2012_2013	c.1969_1970GG>AA	c.(1969-1971)gga>AAa	p.G657K	USP6NL_uc001ikt.3_Missense_Mutation_p.G640K	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	640						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGAGAGTTTCCGTGGTAAACG	0.550000														1			5		0	0	0.004672	0	0
CNN2	1265	broad.mit.edu	37	19	1037643	1037643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1037643G>A	uc002lqu.3	+	6	1037	c.674G>A	c.(673-675)gGg>gAg	p.G225E	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Missense_Mutation_p.G186E|CNN2_uc010xgb.2_Missense_Mutation_p.G214E|CNN2_uc010xgc.2_Missense_Mutation_p.G246E|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	225					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCTCCCGGGACCCGGCGG	0.617000														63			84		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158584062	158584062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158584062C>T	uc001fst.1	-	48	7022	c.6823G>A	c.(6823-6825)Gaa>Aaa	p.E2275K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2275	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGCTAAATTCCTTTAGAGTC	0.328000														19			47		0	0	0.003610	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897137	205897137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:205897137C>T	uc001hdp.3	-	8	1108	c.994G>A	c.(994-996)Gac>Aac	p.D332N	SLC26A9_uc001hdo.3_5'UTR|SLC26A9_uc001hdq.3_Missense_Mutation_p.D332N	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	332						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCTATCATGTCCTTCCACTGT	0.617000														17			35		0	0	0.004878	0	0
GPC3	2719	broad.mit.edu	37	X	132887940	132887940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:132887940C>T	uc010nrn.2	-	2	798	c.601G>A	c.(601-603)Gca>Aca	p.A201T	GPC3_uc004exe.2_Missense_Mutation_p.A201T|GPC3_uc011mvh.2_Missense_Mutation_p.A185T|GPC3_uc010nro.2_Missense_Mutation_p.A147T|GPC3_uc010nrp.2_Missense_Mutation_p.A73T	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	201						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCACGTCTTGCTCCTCGGAGG	0.473000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					23			118		0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628282G>A	uc010ztl.1	+	2	226	c.194G>A	c.(193-195)gGg>gAg	p.G65E	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.G17E					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000														69			4		0	0	0.000602	0	0
SVEP1	79987	broad.mit.edu	37	9	113170290	113170290	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113170290G>A	uc010mtz.3	-	37	7927	c.7590C>T	c.(7588-7590)ctC>ctT	p.L2530L	SVEP1_uc010mty.3_Silent_p.L456L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2530	Sushi 19.				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						TGGGACCTTCGAGCCGAAAGC	0.493000														13			5		0	0	0.000602	0	0
C8orf47	203111	broad.mit.edu	37	8	99101378	99101378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:99101378G>A	uc003yih.1	+	1	281	c.133G>A	c.(133-135)Gga>Aga	p.G45R	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	45										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACATGCACTGGGAAGAGAATC	0.418000														25			24		0	0	0.003954	0	0
MAGI1	9223	broad.mit.edu	37	3	65365004	65365004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:65365004C>T	uc003dmn.3	-	16	3453	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E	MAGI1_uc003dmm.3_Missense_Mutation_p.G1004E|MAGI1_uc003dmo.3_Missense_Mutation_p.G1004E|MAGI1_uc003dmp.3_Missense_Mutation_p.G976E|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Missense_Mutation_p.G287E	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1004	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGTTCTCCCCGCGCCGGAT	0.672000														12			4		0	0	0.000248	0	0
CAMKK2	10645	broad.mit.edu	37	12	121682970	121682970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121682970G>A	uc001tzv.3	-	14	2355	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	CAMKK2_uc001tzt.3_Missense_Mutation_p.S509L|CAMKK2_uc001tzu.3_Missense_Mutation_p.S509L|CAMKK2_uc001tzw.3_Missense_Mutation_p.S466L|CAMKK2_uc001tzx.3_Missense_Mutation_p.S509L|CAMKK2_uc001tzy.3_Missense_Mutation_p.S466L|CAMKK2_uc001tzz.1_Missense_Mutation_p.S296L|CAMKK2_uc001uaa.1_Missense_Mutation_p.S509L|CAMKK2_uc001uab.3_Missense_Mutation_p.S509L|CAMKK2_uc001uac.3_Missense_Mutation_p.S466L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	509					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTGACAGTGAGCGTTCCTC	0.617000														147			66		0	0	0.003610	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037846	220037846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220037846G>A	uc002vju.4	-	7	847	c.695C>T	c.(694-696)tCt>tTt	p.S232F	CNPPD1_uc002vjv.3_Missense_Mutation_p.S232F	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	232					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TAACAGGCAAGACAGCTGCAG	0.502000														13			5		0	0	0.000602	0	0
NEBL	10529	broad.mit.edu	37	10	21108411	21108411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:21108411G>A	uc001iqi.3	-	19	2394	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	666					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGCTTACCGGAGTGGCCTT	0.443000														66			42		0	0	0.003610	0	0
USP8	9101	broad.mit.edu	37	15	50782062	50782062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:50782062C>T	uc001zym.4	+	13	2455	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	USP8_uc001zyl.4_Missense_Mutation_p.P652L|USP8_uc001zyn.4_Missense_Mutation_p.P652L|USP8_uc010ufh.2_Missense_Mutation_p.P546L	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	652					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCAGGACTGCCTTCAGGCTGG	0.343000														53			18		0	0	0.005443	0	0
C11orf30	56946	broad.mit.edu	37	11	76183643	76183643	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:76183643C>T	uc001oxl.3	+	7	1010	c.867C>T	c.(865-867)ttC>ttT	p.F289F	C11orf30_uc009yuj.1_Silent_p.F304F|C11orf30_uc010rsa.1_Silent_p.F239F|C11orf30_uc001oxm.3_Silent_p.F290F|C11orf30_uc010rsb.2_Silent_p.F304F|C11orf30_uc010rsc.2_Silent_p.F304F|C11orf30_uc001oxn.3_Silent_p.F290F|C11orf30_uc010rsd.2_Silent_p.F303F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	289	Interaction with BRCA2.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCAACCTTCGTGCCCAACA	0.388000														48			18		0	0	0.001523	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577965	2577965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2577965C>T	uc010uwc.2	+	4	704	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	AMDHD2_uc002cqp.3_Missense_Mutation_p.R203C|AMDHD2_uc002cqq.3_Missense_Mutation_p.R203C|AMDHD2_uc010uwd.2_5'UTR	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	203					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCTGACGGCCCGTGGCATCTG	0.687000														9			5		0	0	0.000602	0	0
IQCA1	79781	broad.mit.edu	37	2	237233422	237233422	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237233422C>T	uc002vwb.2	-	18	2436	c.2402G>A	c.(2401-2403)tGg>tAg	p.W801*	IQCA1_uc002vvz.1_Nonsense_Mutation_p.W793*|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Nonsense_Mutation_p.W752*	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	793							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGGCATACCAGTTCTGAAA	0.418000														5			6		0	0	0.001984	0	0
ENTPD1	953	broad.mit.edu	37	10	97605216	97605216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:97605216C>T	uc010qoj.2	+	5	775	c.712C>T	c.(712-714)Caa>Taa	p.Q238*	ENTPD1_uc001kle.1_Nonsense_Mutation_p.Q233*|ENTPD1_uc001kli.4_Nonsense_Mutation_p.Q233*|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Nonsense_Mutation_p.Q118*|ENTPD1_uc010qol.2_Nonsense_Mutation_p.Q118*|ENTPD1_uc001klh.4_Nonsense_Mutation_p.Q226*|ENTPD1_uc010qom.2_Nonsense_Mutation_p.Q226*|ENTPD1_uc010qon.2_Nonsense_Mutation_p.Q88*|ENTPD1_uc009xva.3_Nonsense_Mutation_p.Q88*	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	226					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTTGTACCCCAAAACCAGAC	0.458000														61			71		0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53079532	53079532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:53079532C>T	uc003xqz.2	-	5	1240	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ST18_uc011ldq.1_Missense_Mutation_p.E9K|ST18_uc011ldr.1_Missense_Mutation_p.E327K|ST18_uc011lds.1_Missense_Mutation_p.E267K|ST18_uc003xra.2_Missense_Mutation_p.E362K|ST18_uc003xrb.2_Missense_Mutation_p.E362K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E362K(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCCTCTTTTCAGGCCTTGGT	0.512000														93			44		0	0	0.003610	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589632	160589632	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:160589632C>T	uc001fwl.4	-	4	1144	c.798G>A	c.(796-798)acG>acA	p.T266T	SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	266					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTAATGGTTCGTTTTACCTG	0.438000														122			27		0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	3009022	3009022	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:3009022C>T	uc022aqr.1	-	39	6318	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G	CSMD1_uc011kwj.2_Silent_p.G1369G|CSMD1_uc003wqe.3_Silent_p.G1133G|CSMD1_uc010lrg.3_Silent_p.G45G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1977	CUB 12.					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)		TGCTCAGCGTCCCTCCACAGG	0.537000														1			6		0	0	0.003080	0	0
FBXO40	51725	broad.mit.edu	37	3	121341031	121341031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121341031C>T	uc003eeg.2	+	2	965	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	252					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAACAGATTTCCAGTGGCCAT	0.458000														23			8		0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10381874	10381874	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:10381874C>T	uc001aqx.4	+	23	2519	c.2317C>T	c.(2317-2319)Cta>Tta	p.L773L	KIF1B_uc001aqw.4_Silent_p.L727L|KIF1B_uc001aqy.3_Silent_p.L747L|KIF1B_uc001aqz.3_Silent_p.L773L|KIF1B_uc001ara.3_Silent_p.L733L|KIF1B_uc001arb.3_Silent_p.L759L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	773					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCGTGTACCTAAAGGAGGC	0.517000														28			14		0	0	0.002450	0	0
KPNB1	3837	broad.mit.edu	37	17	45753818	45753818	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45753818C>T	uc002ilt.1	+	15	2292	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	KPNB1_uc010wkw.1_Silent_p.P507P|KPNB1_uc010wkx.1_Silent_p.P436P	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	652					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CCTTTAAACCCTTCCTGGGCA	0.418000														36			21		0	0	0.003330	0	0
DSP	1832	broad.mit.edu	37	6	7581653	7581653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7581653G>A	uc003mxp.1	+	22	5509	c.5230G>A	c.(5230-5232)Gat>Aat	p.D1744N	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1744	Central fibrous rod domain.				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)		AGCGGACAGTGATAAAAATGC	0.502000														154			28		0	0	0.006320	0	0
CALCR	799	broad.mit.edu	37	7	93055755	93055756	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:93055755_93055756CT>TA	uc003umv.2	-	15	1739_1740	c.1439_1440AG>TA	c.(1438-1440)gag>gTA	p.E480V	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.E446V|CALCR_uc003umw.2_Missense_Mutation_p.E446V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	462					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATTCCTCAGCTCCTGATGGCA	0.559000														154			42		0	0	0.004672	0	0
PXDNL	137902	broad.mit.edu	37	8	52370162	52370162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52370162C>T	uc003xqu.4	-	8	979	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	293	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGGTGTTTCGGATCATGAG	0.428000														60			69		0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228128651	228128652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228128651_228128652GG>AA	uc002vom.2	+	20	1468_1469	c.1306_1307GG>AA	c.(1306-1308)gga>AAa	p.G436K	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.	436	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)		GGGACCTCCAGGACCGCCAGGT	0.584000														29			13		0	0	0.004672	0	0
MYPN	84665	broad.mit.edu	37	10	69961688	69961688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:69961688C>T	uc001jnm.4	+	18	3781	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	MYPN_uc001jnn.4_Missense_Mutation_p.P924L|MYPN_uc001jno.4_Missense_Mutation_p.P1199L|MYPN_uc009xpt.3_Missense_Mutation_p.P1199L|MYPN_uc010qit.2_Missense_Mutation_p.P905L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1199	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.P1199S(1)|p.M1198R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATAGGCATGCCCCCACCTGTG	0.552000														97			27		0	0	0.004656	0	0
DIAPH3	81624	broad.mit.edu	37	13	60565337	60565337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:60565337G>A	uc001vht.3	-	11	1535	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	DIAPH3_uc001vhu.3_Missense_Mutation_p.S176F|DIAPH3_uc001vhv.3_Missense_Mutation_p.S17F	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	439	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGAAGAATAGAAATAAAATA	0.294000														38			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82546144	82546144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82546144C>T	uc003uhx.2	-	6	11447	c.11158G>A	c.(11158-11160)Gtt>Att	p.V3720I	PCLO_uc003uhv.2_Missense_Mutation_p.V3720I|PCLO_uc010lec.3_Missense_Mutation_p.V685I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3651					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						GTTCTTTTAACTTTTTTCTGG	0.383000														10			161		0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604586	140604586	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140604586G>A	uc003ljb.3	+	0	1509	c.1509G>A	c.(1507-1509)ttG>ttA	p.L503L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCCTCCTTGGTCTCCATCA	0.657000														159			22		0	0	0.004656	0	0
NOTUM	147111	broad.mit.edu	37	17	79916234	79916235	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79916234_79916235CC>TT	uc010wvg.2	-	4	840_841	c.568_569GG>AA	c.(568-570)ggg>AAg	p.G190K		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	190						extracellular region	hydrolase activity	p.A190D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGATGAAGCCCCGCTCCAAACA	0.644000														47			7		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23883043	23883043	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23883043C>T	uc001wjx.3	-	38	5821	c.5715G>A	c.(5713-5715)gaG>gaA	p.E1905E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1905					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)		GCTCCTCTGCCTCATCCAGCT	0.627000														54			41		0	0	0.003610	0	0
ELAC1	55520	broad.mit.edu	37	18	48510681	48510681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:48510681C>T	uc002lez.3	+	2	479	c.373C>T	c.(373-375)Cct>Tct	p.P125S	ELAC1_uc010dpe.3_Missense_Mutation_p.P125S|SMAD4_uc010xdo.1_Intron	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA.	125					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGAACTGGTTCCTACAGCAGA	0.463000														52			17		0	0	0.004007	0	0
CR2	1380	broad.mit.edu	37	1	207643161	207643161	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207643161G>A	uc001hfw.3	+	5	1058	c.939G>A	c.(937-939)gtG>gtA	p.V313V	CR2_uc001hfv.3_Silent_p.V313V|CR2_uc009xch.3_Silent_p.V313V|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	313	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGGAAGGAGTGAACTTCATCC	0.483000														38			6		0	0	0.003080	0	0
ROR2	4920	broad.mit.edu	37	9	94495542	94495542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:94495542C>T	uc004arj.2	-	5	998	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_uc004ari.1_Missense_Mutation_p.E127K|ROR2_uc004ark.3_Missense_Mutation_p.E267K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672000														4			8		0	0	0.004482	0	0
DPF3	8110	broad.mit.edu	37	14	73190401	73190401	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:73190401C>T	uc001xnc.2	-	4	478	c.465G>A	c.(463-465)ggG>ggA	p.G155G	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Silent_p.G155G|DPF3_uc010ttq.1_Silent_p.G165G	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	155					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCATTCCCTTCTTCTA	0.403000														23			55		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158596650	158596650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158596650C>T	uc001fst.1	-	40	6011	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1938					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1938N(2)|p.A1937D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACCACATCAGCCTTCCAG	0.468000														103			67		0	0	0.003610	0	0
TEK	7010	broad.mit.edu	37	9	27228234	27228234	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:27228234G>A	uc011lno.2	+	20	3544	c.3102G>A	c.(3100-3102)gaG>gaA	p.E1034E	TEK_uc003zqi.4_Silent_p.E1077E|TEK_uc011lnp.2_Silent_p.E929E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1077	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCTGGCGGGAGAAGCCTTATG	0.423000														36			31		0	0	0.006999	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37440991	37440991	+	Missense_Mutation	SNP	C	T	T	rs45515098		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37440991C>T	uc021ppc.1	+	11	1580	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ANKRD30A_uc001iza.1_Missense_Mutation_p.P494L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	550						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATCCGATGTTCCCA	0.294000														26			26		0	0	0.006320	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527784	65527784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:65527784G>A	uc003xvj.2	-	3	1060	c.856C>T	c.(856-858)Cat>Tat	p.H286Y		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	286					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAGCCTAAATGATGTGCTGGG	0.423000														12			7		0	0	0.003080	0	0
ZNF630	57232	broad.mit.edu	37	X	47918760	47918761	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47918760_47918761GG>AA	uc004div.4	-	4	1322_1323	c.1070_1071CC>TT	c.(1069-1071)tcc>tTT	p.S357F	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.S343F|ZNF630_uc022bvs.1_Missense_Mutation_p.S357F	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTGACTTCTGGGAGAAAGCTTT	0.436000														11			16		0	0	0.004672	0	0
DNM3	26052	broad.mit.edu	37	1	172100375	172100375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172100375G>A	uc001gie.3	+	13	1782	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	DNM3_uc001gid.4_Missense_Mutation_p.G536R|DNM3_uc009wwb.2_Missense_Mutation_p.G536R|DNM3_uc001gif.3_Missense_Mutation_p.G536R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	546	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGCTCGAAGGGATACTGGTT	0.433000														42			6		0	0	0.003080	0	0
ROS1	6098	broad.mit.edu	37	6	117700232	117700232	+	Missense_Mutation	SNP	G	A	A	rs146533107		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:117700232G>A	uc003pxp.1	-	16	2786	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	863					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCTGTCCCCGAAGAACAGCT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									8			24		0	0	0.003954	0	0
SRL	6345	broad.mit.edu	37	16	4242450	4242450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4242450C>T	uc002cvz.4	-	5	1139	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	835	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TAGAATTTATCGGGATCTTCC	0.478000														50			19		0	0	0.006122	0	0
NOVA1	4857	broad.mit.edu	37	14	26917328	26917328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:26917328C>T	uc001wqa.3	-	5	1781	c.995G>A	c.(994-996)aGg>aAg	p.R332K	NOVA1_uc001wpy.3_Missense_Mutation_p.R454K|NOVA1_uc001wpz.3_Missense_Mutation_p.R430K	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	457	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.L332*(1)|p.L332L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCTGTATCCTTGCACCAGT	0.433000														14			25		0	0	0.003330	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095111	16095111	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16095111A>T	uc001axd.1	+	5	970	c.527A>T	c.(526-528)aAa>aTa	p.K176I	FBLIM1_uc001axe.1_Missense_Mutation_p.K176I|FBLIM1_uc001axg.1_Missense_Mutation_p.K176I|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	176					cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCTGTTGAGAAAGGGGCATCC	0.632000														12			11		0	0	0.001368	0	0
RGPD3	653489	broad.mit.edu	37	2	107041678	107041678	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:107041678G>A	uc010ywi.1	-	19	2802	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	915					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACACAGGGATGGAAAATCCTT	0.363000														147			31		0	0	0.003214	0	0
CRTAM	56253	broad.mit.edu	37	11	122738726	122738726	+	Missense_Mutation	SNP	G	A	A	rs148256561		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:122738726G>A	uc001pyj.3	+	8	970	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	CRTAM_uc001pyk.3_Missense_Mutation_p.E125K	NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	324					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.E324K(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGTAGAAAACGAAGTTTCAGA	0.323000														11			14		0	0	0.004990	0	0
TENC1	23371	broad.mit.edu	37	12	53452367	53452367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53452367C>T	uc001sbp.3	+	15	1372	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	TENC1_uc001sbl.3_Missense_Mutation_p.P289S|TENC1_uc001sbn.3_Missense_Mutation_p.P423S|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	413	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGAGAGGTTCCCCTTCCAAGC	0.622000														25			38		0	0	0.003610	0	0
MST1P9	11223	broad.mit.edu	37	1	17084042	17084042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:17084042C>T	uc010ock.2	-	13	1879	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.G227R					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCCAACAGTCCCTCAGTGCAC	0.562000														56			4		0	0	0.000978	0	0
PTPRF	5792	broad.mit.edu	37	1	44070902	44070902	+	Silent	SNP	G	A	A	rs143712248		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44070902G>A	uc001cjr.3	+	17	3517	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	PTPRF_uc001cjs.3_Silent_p.S1050S|PTPRF_uc001cju.3_Silent_p.S437S|PTPRF_uc009vwt.3_Silent_p.S619S|PTPRF_uc001cjv.3_Silent_p.S519S|PTPRF_uc001cjw.3_Silent_p.S285S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1059	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGGCACTCGATGCGGAAGC	0.612000														20			14		0	0	0.002450	0	0
NRCAM	4897	broad.mit.edu	37	7	107807505	107807505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107807505C>T	uc022aka.1	-	26	3433	c.3327G>A	c.(3325-3327)tgG>tgA	p.W1109*	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1109	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTCTTTTCTCCATTCTTCTT	0.378000														3			29		0	0	0.001786	0	0
OR6K2	81448	broad.mit.edu	37	1	158670177	158670177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158670177C>T	uc001fsu.1	-	0	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAAATGCTCCTCTCACTAAG	0.458000														17			50		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61835032	61835032	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61835032G>A	uc001jky.3	-	36	5945	c.5607C>T	c.(5605-5607)ttC>ttT	p.F1869F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1869	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTTCGACTGAAGTGAGGCT	0.418000														61			25		0	0	0.004656	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545659	234545659	+	Missense_Mutation	SNP	C	T	T	rs144666294		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234545659C>T	uc002vur.3	+	0	537	c.491C>T	c.(490-492)cCc>cTc	p.P164L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.P164L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	167					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.P164L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCTCCCTCCCCTCTGTGGTC	0.433000														73			36		0	0	0.004289	0	0
KDM4D	55693	broad.mit.edu	37	11	94731674	94731674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:94731674C>T	uc021qow.1	+	0	1138	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	KDM4D_uc001pfe.3_Missense_Mutation_p.H380Y	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	380					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCCTTCCCACTGGGCCCG	0.632000														13			15		0	0	0.002450	0	0
NR4A3	8013	broad.mit.edu	37	9	102609826	102609826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:102609826C>T	uc022bky.1	+	7	2363	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	NR4A3_uc004baf.1_Missense_Mutation_p.S521F	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	521					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGACTTTTCCTTAAATTTG	0.478000			T	EWSR1	extraskeletal myxoid chondrosarcoma									35			26		0	0	0.004656	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917321	97917321	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:97917321C>T	uc001klp.3	+	5	2099	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Silent_p.F414F|ZNF518A_uc001klr.3_Silent_p.F414F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTTCAGGTTTCATGAAGACTG	0.413000														24			35		0	0	0.003755	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601919	58601919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58601919G>A	uc001nnd.4	-	5	999	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	GLYATL2_uc009ymq.3_Missense_Mutation_p.P290S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	290						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TATTTCTTGGGGGTGCATTTC	0.363000														21			10		0	0	0.000978	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049724	69049724	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69049724A>G	uc010fdg.3	+	9	1872	c.1453A>G	c.(1453-1455)Aga>Gga	p.R485G	ARHGAP25_uc010yql.2_Missense_Mutation_p.R445G|ARHGAP25_uc002sew.3_Missense_Mutation_p.R477G|ARHGAP25_uc002sex.3_Missense_Mutation_p.R478G	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	484					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGGCACAGGAGAACGATGTC	0.537000														76			29		0	0	0.007291	0	0
SEC22B	9554	broad.mit.edu	37	1	145115850	145115850	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145115850C>T	uc001eml.1	+	5	746	c.606C>T	c.(604-606)ttC>ttT	p.F202F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	203					ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										CTGTATTTTTCATCATGTTAA	0.413000														238			19		0	0	0.001523	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867865	57867865	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57867865C>A	uc001sod.3	-	18	2341	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	ARHGAP9_uc001sny.3_Intron|ARHGAP9_uc001snz.3_Silent_p.L442L|ARHGAP9_uc001soa.3_Silent_p.L315L|ARHGAP9_uc001sob.3_Silent_p.L626L|ARHGAP9_uc001soc.3_Silent_p.L626L|ARHGAP9_uc001soe.1_Silent_p.L705L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	645	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTGGTGGCACCAGAGGCTGGG	0.552000														62			5		0.000602214	0.000945176	0.000602	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921091	12921091	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12921091C>T	uc001aum.1	+	3	969	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	294								p.P294T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGAACCCCTTGGAGAACT	0.458000														59			21		0	0	0.003330	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598735	62598735	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62598735G>A	uc002yhl.1	-	3	318	c.264_splice	c.e3+1	p.P88_splice		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGCTCACAGGAATGTCTCG	0.597000														168			23		0	0	0.004656	0	0
SORCS3	22986	broad.mit.edu	37	10	107005369	107005369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:107005369C>T	uc001kyi.1	+	20	3165	c.2938C>T	c.(2938-2940)Cag>Tag	p.Q980*	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	980						integral to membrane	neuropeptide receptor activity	p.Q980H(1)		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)		CATCACAGTCCAGGTGGCTGC	0.468000														47			22		0	0	0.003330	0	0
FZD7	8324	broad.mit.edu	37	2	202900514	202900514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202900514C>T	uc002uyw.1	+	0	1205	c.1144C>T	c.(1144-1146)Cac>Tac	p.H382Y		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	382					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCAGTACTTCCACCTGGCCGC	0.652000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			9		0	0	0.004482	0	0
ABCD4	5826	broad.mit.edu	37	14	74766262	74766262	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74766262G>A	uc001xpr.2	-	2	426	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ABCD4_uc001xps.2_Intron|ABCD4_uc010tur.2_Silent_p.L5L|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Intron	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	92	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GTGGAGTTCAGAACAATGAGC	0.512000														14			18		0	0	0.006122	0	0
NINL	22981	broad.mit.edu	37	20	25507211	25507211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:25507211C>T	uc002wux.1	-	1	87	c.13G>A	c.(13-15)Gag>Aag	p.E5K	NINL_uc010gdn.1_Missense_Mutation_p.E5K|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.E21K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	5					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TAGTGGTTCTCTTCTTCATCC	0.572000														95			38		0	0	0.001951	0	0
SSBP2	23635	broad.mit.edu	37	5	80762802	80762802	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:80762802C>A	uc003khp.3	-	8	864	c.653G>T	c.(652-654)gGa>gTa	p.G218V	SSBP2_uc003khn.3_Missense_Mutation_p.G84V|SSBP2_uc011ctr.2_Missense_Mutation_p.G180V|SSBP2_uc003kho.3_Missense_Mutation_p.G210V|SSBP2_uc011ctp.2_Missense_Mutation_p.G190V|SSBP2_uc011ctq.2_Missense_Mutation_p.G188V	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	210	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CATGTTCATTCCAGGCATTCC	0.333000														19			32		9.17885e-22	1.46071e-21	0.003271	1	0
KDM2B	84678	broad.mit.edu	37	12	121877844	121877844	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121877844G>A	uc001uat.3	-	21	3749	c.3645C>T	c.(3643-3645)atC>atT	p.I1215I	KDM2B_uc010szy.2_Silent_p.I655I|KDM2B_uc001uaq.3_Silent_p.I655I|KDM2B_uc001uar.3_Silent_p.I806I|KDM2B_uc001uas.3_Silent_p.I1146I|KDM2B_uc021rfd.1_Silent_p.I1146I|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.I1215I|KDM2B_uc001uao.3_Silent_p.I463I|KDM2B_uc010szx.2_Silent_p.I463I|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1215					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGCTCCACGATGTTCCGGA	0.612000														7			5		0	0	0.000602	0	0
CLTA	1211	broad.mit.edu	37	9	36198988	36198988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:36198988C>T	uc003zzc.3	+	2	469	c.268C>T	c.(268-270)Cca>Tca	p.P90S	CLTA_uc022bgo.1_Missense_Mutation_p.P90S|CLTA_uc022bgp.1_Intron|CLTA_uc011lpk.2_Missense_Mutation_p.P90S|CLTA_uc003zzd.3_Missense_Mutation_p.P90S|CLTA_uc003zze.3_Missense_Mutation_p.P90S	NM_007096	NP_009027	P09496	CLCA_HUMAN	Homo sapiens clathrin, light chain A (CLTA), transcript variant 2, mRNA.	90					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			AAGTAATGGTCCAACAGACAG	0.398000														36			23		0	0	0.002299	0	0
CENPF	1063	broad.mit.edu	37	1	214817969	214817969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214817969C>T	uc001hkm.3	+	12	5230	c.5056C>T	c.(5056-5058)Cca>Tca	p.P1686S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1782					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAAGAACACCAAAGCATGA	0.383000														61			14		0	0	0.004007	0	0
CP	1356	broad.mit.edu	37	3	148930247	148930247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:148930247C>T	uc003ewy.4	-	1	638	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Missense_Mutation_p.E129K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	129	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCCTCATGTTCCTTATAGTAA	0.368000														28			8		0	0	0.004482	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386159	44386159	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44386159C>T	uc001ckb.3	+	10	1212	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	ST3GAL3_uc001cjz.3_Silent_p.F291F|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Silent_p.F276F|ST3GAL3_uc001ckd.3_Silent_p.F330F|ST3GAL3_uc001cke.3_Silent_p.F260F|ST3GAL3_uc001ckf.3_Silent_p.F314F|ST3GAL3_uc001ckg.3_Intron|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Intron|ST3GAL3_uc009vwz.3_Silent_p.F50F|ST3GAL3_uc001ckm.3_Intron|ST3GAL3_uc001ckn.3_Intron|ST3GAL3_uc001cko.3_Intron|ST3GAL3_uc001ckp.3_Intron|ST3GAL3_uc009vxa.3_Silent_p.F63F|ST3GAL3_uc001ckq.3_Intron|ST3GAL3_uc001ckr.3_Intron|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Intron|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Silent_p.F245F|ST3GAL3_uc009vwy.3_Silent_p.F182F|ST3GAL3_uc001ckl.3_Intron	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	276					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ACCCATATTTCATCCAGGAGG	0.577000														37			19		0	0	0.007413	0	0
C6	729	broad.mit.edu	37	5	41143050	41143050	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41143050T>C	uc003jmk.2	-	17	2892	c.2682A>G	c.(2680-2682)caA>caG	p.Q894Q	C6_uc003jml.1_Silent_p.Q894Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	894	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGTAGAGTTGGTTTCCAC	0.443000														30			43		0	0	0.002222	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15124054	15124055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15124054_15124055GG>AA	uc003bzm.1	-	8	1273_1274	c.659_660CC>TT	c.(658-660)ccc>cTT	p.P220L	ZFYVE20_uc010hek.1_Missense_Mutation_p.P220L|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	220	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGACACTGTTGGGTGACTGGCT	0.604000														17			26		0	0	0.004672	0	0
AIM1L	55057	broad.mit.edu	37	1	26672230	26672230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26672230C>T	uc001bmd.4	-	1	1069	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCAGGGGCATCCTGATTCTTA	0.637000														8			5		0	0	0.001168	0	0
SUGP2	10147	broad.mit.edu	37	19	19112431	19112431	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19112431G>A	uc002nkz.1	-	7	3044	c.3024C>T	c.(3022-3024)tcC>tcT	p.S1008S	SUGP2_uc002nkx.2_Silent_p.S994S|SUGP2_uc002nla.1_Silent_p.S994S|SUGP2_uc002nlb.2_Silent_p.S994S|SUGP2_uc010xqk.1_Silent_p.S763S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	994					RNA splicing|mRNA processing	nucleus	RNA binding	p.S994S(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTCTTTTTGGACATGGGAC	0.433000														60			14		0	0	0.002450	0	0
SCAF11	9169	broad.mit.edu	37	12	46320217	46320217	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46320217A>C	uc001rox.3	-	10	3554	c.3267T>G	c.(3265-3267)taT>taG	p.Y1089*	SCAF11_uc001row.3_Nonsense_Mutation_p.Y774*|SCAF11_uc001roy.1_Nonsense_Mutation_p.Y1163*	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1089					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTGATCTTTATAGGCAAAAC	0.428000														91			22		0	0	0.003330	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38350536C>T	uc003cib.2	+	3	940	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_uc010hhc.1_Silent_p.I289I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000														74			26		0	0	0.004878	0	0
OR51A7	119687	broad.mit.edu	37	11	4928765	4928765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4928765C>T	uc010qyq.2	+	0	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTCGCTTCATGAGCCCAT	0.493000														14			57		0	0	0.003610	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825463	64825463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64825463G>A	uc001ocn.3	-	2	380	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	122					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCAGTGGGGCCCACTGTT	0.652000														68			23		0	0	0.004656	0	0
ZNF764	92595	broad.mit.edu	37	16	30569482	30569482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30569482G>A	uc002dyq.3	-	0	161	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	ZNF764_uc002dyr.2_Missense_Mutation_p.L8F	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGGGGAGGGAGCGGGGCCAGA	0.726000														11			13		0	0	0.004990	0	0
COL5A3	50509	broad.mit.edu	37	19	10071421	10071421	+	Missense_Mutation	SNP	C	T	T	rs141508267	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10071421C>T	uc002mmq.1	-	65	5083	c.4997G>A	c.(4996-4998)aGc>aAc	p.S1666N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1666	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCGGAGTGGCTGTAGTCACC	0.597000														47			11		0	0	0.000673	0	0
ZNF362	149076	broad.mit.edu	37	1	33747277	33747277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:33747277C>T	uc001bxc.1	+	5	943	c.773C>T	c.(772-774)cCg>cTg	p.P258L		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAAGTGCCCGCACTGCTCC	0.582000														57			42		0	0	0.002852	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787233	122787233	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:122787233G>A	uc003vkm.3	-	6	817	c.792C>T	c.(790-792)atC>atT	p.I264I	SLC13A1_uc010lks.3_Silent_p.I140I	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	264						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTCTGCAAAGATCAAGTTGG	0.388000														3			39		0	0	0.002222	0	0
CMTM1	113540	broad.mit.edu	37	16	66603928	66603928	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66603928C>T	uc002epr.4	+	1	589	c.522C>T	c.(520-522)gtC>gtT	p.V174V	CMTM1_uc021tjs.1_Intron|CMTM1_uc021tjt.1_Intron|CMTM1_uc021tju.1_Intron|CMTM1_uc002eph.4_Silent_p.V57V|CMTM1_uc002epi.4_Silent_p.V57V|CMTM1_uc002epl.4_Intron|CMTM1_uc002epj.4_Intron|CMTM1_uc002epk.4_Intron|CMTM1_uc002epa.4_Intron|CMTM1_uc002epb.4_Non-coding_Transcript|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Intron|CMTM1_uc002epe.4_Intron|CMTM1_uc002epf.4_Intron|CMTM1_uc002epg.4_Intron|CMTM1_uc002epm.4_Non-coding_Transcript|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Non-coding_Transcript|CMTM1_uc010cds.3_Non-coding_Transcript|CMTM1_uc002epn.4_Silent_p.V174V|CMTM1_uc002eps.3_Non-coding_Transcript	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	57					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TCTGCATTGTCGTTTTTTTTA	0.343000														105			47		0	0	0.003214	0	0
DNAH17	8632	broad.mit.edu	37	17	76567725	76567725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76567725C>T	uc010dhp.2	-	3	804	c.679G>A	c.(679-681)Gag>Aag	p.E227K	DNAH17_uc002jvv.2_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACTCGAACTCCACTTGGGGC	0.617000														47			25		0	0	0.001786	0	0
ETV3	2117	broad.mit.edu	37	1	157103994	157103994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157103994G>A	uc001fqr.2	-	3	599	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ETV3_uc001fqt.3_Missense_Mutation_p.H104Y	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	104							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTGTTTTATGAAGGATCCTC	0.373000														45			8		0	0	0.004482	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:162751222C>T	uc002ubx.4	+	10	1412	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R422C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R391C|SLC4A10_uc002uby.4_Missense_Mutation_p.R380C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		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						AGCTAAAGATCGTAATGACTT	0.328000														21			12		0	0	0.000978	0	0
RNASEL	6041	broad.mit.edu	37	1	182544605	182544605	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:182544605G>A	uc009wxz.2	-	6	2405	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	716	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGTTTGGGGGAAATGCTTTC	0.473000														81			23		0	0	0.002780	0	0
CELSR2	1952	broad.mit.edu	37	1	109794877	109794877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109794877C>T	uc001dxa.4	+	0	2237	c.2176C>T	c.(2176-2178)Ccg>Tcg	p.P726S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	726	Cadherin 6.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAGGACCGGCCGGCAGGCAC	0.577000														175			82		0	0	0.003610	0	0
OR12D3	81797	broad.mit.edu	37	6	29342252	29342252	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29342252C>T	uc003nme.3	-	0	817	c.813G>A	c.(811-813)cgG>cgA	p.R271R		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGGCCATTATCCGGTCCTGAA	0.463000														72			16		0	0	0.003163	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883402	4883402	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:4883402G>A	uc010cku.2	-	8	1696	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	CAMTA2_uc002gag.2_Silent_p.A404A|CAMTA2_uc002gah.2_Silent_p.A405A|CAMTA2_uc002gai.2_Silent_p.A407A|CAMTA2_uc010ckv.1_Silent_p.A52A|CAMTA2_uc010vsu.2_Silent_p.A218A	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	405					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGTATGAGCGGCCTCTGCCT	0.642000														31			28		0	0	0.007291	0	0
CACNA1E	777	broad.mit.edu	37	1	181548280	181548280	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181548280T>C	uc009wxt.3	+	4	884	c.689T>C	c.(688-690)tTt>tCt	p.F230S	CACNA1E_uc001gow.3_Missense_Mutation_p.F230S|CACNA1E_uc009wxs.3_Missense_Mutation_p.F230S|CACNA1E_uc009wxr.3_Missense_Mutation_p.F137S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	230					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCTCTTCTTTGCCATCCTG	0.453000														59			110		0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138208522	138208522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:138208522C>T	uc002tva.1	+	13	2974	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1023*(1)		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)		AGTGAGAATTCGATCCAAATG	0.408000														22			8		0	0	0.003080	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370833	35370833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35370833C>T	uc001byc.3	-	0	152	c.152G>A	c.(151-153)aGa>aAa	p.R51K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	51					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.P50L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGGCCAGCTCTCGGGGCACA	0.701000														8			5		0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34112365	34112365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34112365C>T	uc001bxm.1	-	28	4834	c.4657G>A	c.(4657-4659)Gga>Aga	p.G1553R	CSMD2_uc001bxn.1_Missense_Mutation_p.G1513R|CSMD2_uc001bxo.1_Missense_Mutation_p.G426R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1513	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGAAGCTTCCTATGAGAGGG	0.567000														11			11		0	0	0.001368	0	0
COL7A1	1294	broad.mit.edu	37	3	48604154	48604154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48604154G>A	uc003ctz.2	-	110	8244	c.8243C>T	c.(8242-8244)cCc>cTc	p.P2748L	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2748	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCTCTCCGGGGGGACCTCG	0.642000														71			30		0	0	0.007291	0	0
RALGDS	5900	broad.mit.edu	37	9	135985089	135985090	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:135985089_135985090GG>AA	uc004cco.3	-	3	527_528	c.507_508CC>TT	c.(505-510)gccctc>gcTTtc	p.L170F	RALGDS_uc004ccp.3_Intron|RALGDS_uc004ccq.3_Intron|RALGDS_uc004ccr.3_Missense_Mutation_p.L169F|RALGDS_uc011mcv.2_Intron|RALGDS_uc004ccs.3_Missense_Mutation_p.L115F|RALGDS_uc011mcw.2_Missense_Mutation_p.L241F|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	170	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GAGGCCGTGAGGGCGTCACATc	0.525000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									43			15		0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10411710	10411710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10411710G>A	uc002gmo.3	-	15	1961	c.1867C>T	c.(1867-1869)Ctc>Ttc	p.L623F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	623	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CCAACAAAGAGGAGAGCCAGA	0.473000														36			47		0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14378178	14378178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:14378178G>A	uc003ssz.3	-	21	2274	c.2087C>T	c.(2086-2088)aCc>aTc	p.T696I	DGKB_uc011jxt.2_Missense_Mutation_p.T677I|DGKB_uc003sta.3_Missense_Mutation_p.T696I|DGKB_uc011jxu.2_Missense_Mutation_p.T695I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.T696T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCTGTGACGGTGGTCCTTTT	0.393000														99			136		0	0	0.003610	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471912	47471912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47471912G>A	uc001rpm.3	-	2	1529	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R292C|AMIGO2_uc001rpl.3_Missense_Mutation_p.R292C|AMIGO2_uc021qxg.1_Missense_Mutation_p.R292C	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	292	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCAAGCGCACGAAAGGAACCA	0.512000														51			79		0	0	0.003610	0	0
ZFP37	7539	broad.mit.edu	37	9	115811738	115811738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115811738C>T	uc011lwz.1	-	2	326	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ZFP37_uc004bgm.1_Missense_Mutation_p.E85K|ZFP37_uc011lxa.1_Missense_Mutation_p.E86K	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	85	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCTCCTTTTTCCAACTTGGAG	0.453000														11			5		0	0	0.001168	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691861	122691861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:122691861G>A	uc001ubx.3	+	2	1281	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	B3GNT4_uc001uby.3_Missense_Mutation_p.E330K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	355					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CAGCCCCCTCGAGATGTGGAC	0.627000														13			10		0	0	0.000978	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073779	62073779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62073779C>T	uc002yey.1	-	4	973	c.796G>A	c.(796-798)Gat>Aat	p.D266N	KCNQ2_uc002yez.1_Missense_Mutation_p.D266N|KCNQ2_uc002yfa.1_Missense_Mutation_p.D266N|KCNQ2_uc002yfb.1_Missense_Mutation_p.D266N|KCNQ2_uc011aax.1_Missense_Mutation_p.D266N|KCNQ2_uc002yfc.1_Missense_Mutation_p.D266N	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	266					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A265A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CAGAGTGCATCCGCGTAGGTG	0.577000														212			53		0	0	0.003610	0	0
LNX2	222484	broad.mit.edu	37	13	28155802	28155802	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:28155802C>T	uc001url.4	-	1	348	c.39G>A	c.(37-39)caG>caA	p.Q13Q	LNX2_uc001urm.1_Silent_p.Q13Q	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	13							zinc ion binding			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)		AGGAGGAGGTCTGTTCCACAG	0.423000														17			20		0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13829760	13829760	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13829760G>A	uc003jfd.2	-	37	6345	c.6303C>T	c.(6301-6303)ttC>ttT	p.F2101F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2101	AAA 1 (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)					CCACTGAGCGGAAATTAATCT	0.453000									Kartagener syndrome					42			30		0	0	0.002836	0	0
HELZ	9931	broad.mit.edu	37	17	65156472	65156472	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:65156472G>A	uc010wqk.2	-	16	2272	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.L694L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358000														29			13		0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176525627C>T	uc001gkz.3	+	1	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000														30			78		0	0	0.003610	0	0
CYBB	1536	broad.mit.edu	37	X	37651306	37651306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:37651306C>T	uc004ddr.2	+	3	392	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.H79Y|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	111	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GATTGCACTTCACTCTGGTAA	0.378000														22			9		0	0	0.004482	0	0
NOL4	8715	broad.mit.edu	37	18	31432826	31432826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:31432826G>A	uc010dmi.3	-	10	2195	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	NOL4_uc010xbs.2_Missense_Mutation_p.L348F|NOL4_uc002kxr.4_Missense_Mutation_p.L405F|NOL4_uc010xbt.2_Missense_Mutation_p.L559F|NOL4_uc010dmh.3_Missense_Mutation_p.L495F|NOL4_uc010xbu.2_Missense_Mutation_p.L569F|NOL4_uc002kxt.4_Missense_Mutation_p.L531F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	633						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						TGTAAAATGAGATTTTCCAGT	0.408000														28			6		0	0	0.003080	0	0
TLL1	7092	broad.mit.edu	37	4	167021925	167021925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:167021925C>T	uc003irh.2	+	20	3586	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L	TLL1_uc011cjn.2_Missense_Mutation_p.S1003L|TLL1_uc011cjo.2_Missense_Mutation_p.S804L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	980	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D979Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGAGATTCAGTTTTAATT	0.323000														49			59		0	0	0.003610	0	0
ADAM29	11086	broad.mit.edu	37	4	175898965	175898965	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:175898965G>A	uc003iuc.3	+	4	2959	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	ADAM29_uc003iud.3_Silent_p.V763V|ADAM29_uc010irr.3_Silent_p.V763V|ADAM29_uc011cki.2_Silent_p.V763V|ADAM29_uc021xuo.1_Silent_p.V763V	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	763	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V763M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AACCTCCTGTGACACCCTCCC	0.567000														57			79		0	0	0.003610	0	0
GABRR3	200959	broad.mit.edu	37	3	97711711	97711711	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97711711G>A	uc021xbo.1	-	8		c.1206C>T				NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						CTGTCTTCTTGAATTGTTTCC	0.473000														142			48		0	0	0.003610	0	0
ZFP14	57677	broad.mit.edu	37	19	36831728	36831728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:36831728G>A	uc010xtd.2	-	3	1082	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ZFP14_uc010eex.2_Missense_Mutation_p.H334Y	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCACCAAAATGAATTTTCTGA	0.403000														51			11		0	0	0.000978	0	0
BCAM	4059	broad.mit.edu	37	19	45316839	45316839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:45316839G>A	uc002ozu.3	+	5	790	c.746G>A	c.(745-747)gGc>gAc	p.G249D	BCAM_uc002ozt.1_Missense_Mutation_p.G249D	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	249	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGCCGCCACGGCCGCCTGGAC	0.667000														99			52		0	0	0.003610	0	0
MAEL	84944	broad.mit.edu	37	1	166973452	166973452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:166973452G>A	uc001gdy.1	+	5	630	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	MAEL_uc021peh.1_Missense_Mutation_p.E131K|MAEL_uc001gdz.1_Missense_Mutation_p.E156K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	187					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCAAATTTTGAACGTGGGCA	0.378000														90			38		0	0	0.002522	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469513	25469513	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25469513G>T	uc002rgc.3	-	9	1512	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	DNMT3A_uc002rgd.3_Missense_Mutation_p.P419T|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.P230T	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	419					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCTTAGGGCCAGAAGGC	0.622000			"""Mis, F, N, S"""		AML									44			12		4.36969e-10	6.91702e-10	0.001855	1	0
ASPRV1	151516	broad.mit.edu	37	2	70187890	70187890	+	Missense_Mutation	SNP	G	A	A	rs143860688		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:70187890G>A	uc002sfz.4	-	0	1508	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	311					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGCAGAAGGCGAAACTTCTTC	0.567000														96			31		0	0	0.003755	0	0
CT47B1	643311	broad.mit.edu	37	X	120008958	120008958	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:120008958C>T	uc011muc.2	-	0	822	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	189										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGATCAGGCCGAGGC	0.716000														23			21		0	0	0.001523	0	0
TCRA	0	broad.mit.edu	37	14	22690332	22690332	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22690332C>T	uc010ajo.1	+	0	245	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajn.1_Silent_p.S97S					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		TCTCAGCATCCATACCTAGTG	0.468000														39			32		0	0	0.002096	0	0
PRIC285	85441	broad.mit.edu	37	20	62197221	62197221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62197221G>A	uc002yfm.2	-	8	3846	c.2954C>T	c.(2953-2955)gCc>gTc	p.A985V	PRIC285_uc002yfl.1_Missense_Mutation_p.A416V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	985	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTGCTCCTCGGCCAGGTCCCC	0.697000														7			20		0	0	0.001523	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971908	54971908	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:54971908G>A	uc004dty.1	-	9	1133	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	PFKFB1_uc010nkd.1_Silent_p.D162D|PFKFB1_uc011mol.1_Silent_p.D289D	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	354	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATTTATCTTGGTCTCGCAGTG	0.478000														18			9		0	0	0.000673	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086712	41086712	+	Silent	SNP	C	T	T	rs141174643		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41086712C>T	uc002oob.3	+	8	763	c.714C>T	c.(712-714)atC>atT	p.I238I	SHKBP1_uc002ooc.3_Silent_p.I238I|SHKBP1_uc010xvl.1_Silent_p.I161I|SHKBP1_uc002ooe.3_Silent_p.I75I|SHKBP1_uc010xvm.2_Silent_p.I75I|SHKBP1_uc010xvn.2_Silent_p.I116I	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	238						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGGCCCATCGAACGACTGG	0.627000														54			22		0	0	0.001523	0	0
DLG3	1741	broad.mit.edu	37	X	69670617	69670617	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:69670617C>T	uc004dyi.2	+	5	1316	c.969C>T	c.(967-969)ccC>ccT	p.P323P	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	323					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TGTACGCTCCCCCTGACTACG	0.542000														18			10		0	0	0.001368	0	0
KIR3DL3	115653	broad.mit.edu	37	GL000209.1	18705	18705	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrGL000209.1:18705C>T	uc010euy.2	+	5	1031	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	342						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)		TCTTCTTTCTCCTTCATCGCT	0.522000														37			9		0	0	0.002450	0	0
PARP6	56965	broad.mit.edu	37	15	72552844	72552844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72552844G>A	uc002auc.3	-	8	1190	c.731C>T	c.(730-732)cCt>cTt	p.P244L	PARP6_uc002aua.3_Intron|PARP6_uc002aub.3_Intron|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.P244L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	244							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGCTGGGGGAGGGAGGCCCAC	0.587000														96			107		0	0	0.003610	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410252	79410252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79410252C>T	uc002kaf.2	+	3	1691	c.1691C>T	c.(1690-1692)cCg>cTg	p.P564L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	626							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTGCCTGCGCCGCCGGACGAG	0.662000														27			4		0	0	0.000248	0	0
TMEM209	84928	broad.mit.edu	37	7	129832562	129832562	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129832562G>A	uc003vpn.2	-	5	798	c.675C>T	c.(673-675)gtC>gtT	p.V225V	TMEM209_uc010lmc.1_Silent_p.V225V	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	225						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTGAGTTGTAGACGGTAGGTG	0.498000														71			9		0	0	0.004482	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943217	78943217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:78943217G>A	uc001jxn.3	-	4	947	c.770C>T	c.(769-771)cCc>cTc	p.P257L	KCNMA1_uc021ptu.1_Missense_Mutation_p.P203L|KCNMA1_uc001jxj.2_Missense_Mutation_p.P257L|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.P77L|KCNMA1_uc001jxo.3_Missense_Mutation_p.P257L|KCNMA1_uc001jxm.3_Missense_Mutation_p.P257L|KCNMA1_uc001jxq.3_Missense_Mutation_p.P257L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	257					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CACAAACACGGGGGGCACCGT	0.458000														14			19		0	0	0.001523	0	0
CDSN	1041	broad.mit.edu	37	6	31084447	31084447	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31084447C>T	uc003nsm.2	-	1	1001	c.945G>A	c.(943-945)aaG>aaA	p.K315K	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	315	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGATTTTACCCTTACTGTAGG	0.552000														17			40		0	0	0.002222	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735047	41735047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41735047C>T	uc003azw.3	+	8	884	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	239					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCTCCCCTCCACGCCCACG	0.667000														107			126		0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40962209	40962209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:40962209C>T	uc003jmh.3	+	12	1798	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	562					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACATTGCTTTCCTTTGTCTTT	0.333000														4			4		0	0	0.000248	0	0
VCL	7414	broad.mit.edu	37	10	75849867	75849867	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:75849867A>G	uc001jwd.3	+	9	1357	c.1263A>G	c.(1261-1263)ttA>ttG	p.L421L	VCL_uc009xrr.3_Silent_p.L170L|VCL_uc010qky.1_Silent_p.L328L|VCL_uc001jwe.3_Silent_p.L421L|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	421	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TAGCAGAATTATGTGATGATC	0.418000														56			24		0	0	0.004656	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	T	T	rs142326096		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:21318927C>T	uc021tss.1	+	2	643	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ18_uc002gyv.1_Silent_p.F91F|KCNJ18_uc021tst.1_Silent_p.F91F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	91						integral to membrane	inward rectifier potassium channel activity										CGCTGGCCTTCCTTGCCTCCT	0.622000														22			6		0	0	0.003080	0	0
PTPN13	5783	broad.mit.edu	37	4	87691040	87691040	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:87691040C>T	uc003hpz.3	+	28	5088	c.4608C>T	c.(4606-4608)ctC>ctT	p.L1536L	PTPN13_uc003hpy.3_Silent_p.L1541L|PTPN13_uc003hqa.3_Silent_p.L1517L|PTPN13_uc003hqb.3_Silent_p.L1345L|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1536	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTAAAAAGCTCTTTCCTGGAC	0.383000														20			38		0	0	0.006999	0	0
FAM22F	54754	broad.mit.edu	37	9	97083470	97083470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:97083470G>A	uc004aup.1	-	3	908	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	296										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CATCCACTGCGATTTCTGAAT	0.642000														3			5		0	0	0.001168	0	0
TRPM2	7226	broad.mit.edu	37	21	45860727	45860727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45860727C>T	uc010gpt.1	+	31	4575	c.4475C>T	c.(4474-4476)aCg>aTg	p.T1492M	TRPM2_uc002zet.1_Missense_Mutation_p.T1442M|TRPM2_uc002zeu.1_Missense_Mutation_p.T1442M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T1442M|TRPM2_uc002zex.1_Missense_Mutation_p.T1228M|TRPM2_uc002zey.1_Missense_Mutation_p.T921M|TRPM2_uc011aff.1_Missense_Mutation_p.T123M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1442	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGATCGAGACGGTGGCCGTC	0.617000														52			42		0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175046593	175046593	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175046593C>T	uc001gkl.1	+	1	152	c.39C>T	c.(37-39)ctC>ctT	p.L13L	TNN_uc010pmx.1_Silent_p.L13L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	13					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTATGGGGCTCCTGCTTGGCT	0.567000														89			27		0	0	0.001786	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625680	140625680	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140625680C>T	uc003lje.3	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	178	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCATTTCCATGTTTCCA	0.507000														29			7		0	0	0.001984	0	0
LRRN2	10446	broad.mit.edu	37	1	204588311	204588311	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:204588311C>T	uc021phy.1	-	0	810	c.810G>A	c.(808-810)aaG>aaA	p.K270K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.K270K|LRRN2_uc001hbf.1_Silent_p.K270K|LRRN2_uc009xbf.1_Silent_p.K270K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	270					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGAGCGGGTTCTTGTTGAGGT	0.602000														33			51		0	0	0.003610	0	0
ANKRD24	170961	broad.mit.edu	37	19	4210288	4210288	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4210288C>T	uc010dtt.1	+	12	1254	c.978C>T	c.(976-978)atC>atT	p.I326I	ANKRD24_uc002lzs.2_Silent_p.I297I|ANKRD24_uc002lzt.2_Silent_p.I298I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	326										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGAGGAGATCGTGAGGCTGC	0.632000														3			3		0	0	0.000602	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447216	10447216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:10447216G>A	uc003gmn.3	-	2	1224	c.737C>T	c.(736-738)tCc>tTc	p.S246F	ZNF518B_uc021xme.1_Missense_Mutation_p.S246F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCGTGGATTGGAAGCTTTTAG	0.433000														78			54		0	0	0.003610	0	0
SLX4	84464	broad.mit.edu	37	16	3639858	3639858	+	Missense_Mutation	SNP	G	A	A	rs141860134		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3639858G>A	uc002cvp.2	-	11	4408	c.3781C>T	c.(3781-3783)Ccg>Tcg	p.P1261S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1261	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGGCCAGCGGGGTGGCGGGC	0.677000								Direct reversal of damage						35			12		0	0	0.002450	0	0
DNAI2	64446	broad.mit.edu	37	17	72278110	72278110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72278110C>T	uc002jkf.3	+	1	264	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	DNAI2_uc002jkg.3_Nonsense_Mutation_p.Q52*|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	52					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CACGGGCATCCAGTGCTCGAT	0.662000									Kartagener syndrome					49			42		0	0	0.003214	0	0
C20orf26	26074	broad.mit.edu	37	20	20037323	20037323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20037323G>A	uc002wru.3	+	1	140	c.26G>A	c.(25-27)gGa>gAa	p.G9E	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.G9E|C20orf26_uc010zsf.1_Missense_Mutation_p.G9E|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	9										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTCCAAGAGGAAAGGTAGAA	0.358000														33			34		0	0	0.004289	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163016	72163016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:72163016C>T	uc002fcc.4	-	12	2086	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	PMFBP1_uc002fcd.3_Missense_Mutation_p.M633I|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.M488I|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	638										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTCTCCCTCCATCAGCTTCT	0.493000														235			100		0	0	0.003610	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669422	45669422	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45669422A>T	uc002ilr.4	+	10	1584	c.1361A>T	c.(1360-1362)gAt>gTt	p.D454V	NPEPPS_uc010wkt.2_Missense_Mutation_p.D450V|NPEPPS_uc010wku.2_Missense_Mutation_p.D418V|NPEPPS_uc010wkv.2_Missense_Mutation_p.D8V	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	454					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TACATTGGGGATAAGGTAAAA	0.343000														27			16		0	0	0.007413	0	0
RNF38	152006	broad.mit.edu	37	9	36390467	36390467	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:36390467G>A	uc003zzh.3	-	1	350	c.159C>T	c.(157-159)ttC>ttT	p.F53F	RNF38_uc003zzi.3_Intron|RNF38_uc003zzj.3_5'UTR|RNF38_uc003zzk.3_Intron|RNF38_uc003zzl.3_Intron|RNF38_uc003zzm.3_5'UTR	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	53							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TAAGAACCTGGAAGAAAGCTT	0.438000														34			25		0	0	0.005443	0	0
OR4K1	79544	broad.mit.edu	37	14	20404381	20404381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20404381G>A	uc001vwj.2	+	0	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443000														325			19		0	0	0.001882	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:34072135C>T	uc002hjv.2	-	5	2409	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632000														76			43		0	0	0.003610	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873624	48873624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:48873624G>A	uc002rwp.2	+	7	2647	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.V845M|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.V798M|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.V141M|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.V107M	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	798					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.M844T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAATTATGGTGACAGAGAC	0.358000														41			13		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61967832	61967832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61967832G>A	uc001jky.3	-	9	1494	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	ANK3_uc010qih.2_Missense_Mutation_p.L369F|ANK3_uc001jkz.4_Missense_Mutation_p.L380F|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.L47F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	386					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATCCAAGAGAACCTTGGCA	0.527000														41			24		0	0	0.002780	0	0
NAA25	80018	broad.mit.edu	37	12	112509802	112509802	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:112509802C>T	uc001ttm.3	-	9	991	c.933G>A	c.(931-933)acG>acA	p.T311T	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.T283T|NAA25_uc009zwa.2_Silent_p.T311T	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	311						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAGATTCTTCCGTTATCCGAT	0.388000														26			7		0	0	0.001984	0	0
CHFR	55743	broad.mit.edu	37	12	133438112	133438112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:133438112G>A	uc001ulf.2	-	6	812	c.728C>T	c.(727-729)tCg>tTg	p.S243L	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.S202L|CHFR_uc001ule.2_Missense_Mutation_p.S231L|CHFR_uc010tbs.1_Missense_Mutation_p.S243L|CHFR_uc010tbt.1_Missense_Mutation_p.S151L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	243					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T242I(1)|p.V243I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TTCCAACGACGAAAAGGACGC	0.537000														30			18		0	0	0.001523	0	0
HRH3	11255	broad.mit.edu	37	20	60791640	60791640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60791640G>A	uc002yci.3	-	2	1057	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HRH3_uc002ycf.2_Missense_Mutation_p.P254S|HRH3_uc002ych.3_Missense_Mutation_p.P254S|HRH3_uc002ycg.3_Missense_Mutation_p.P254S	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	254	Poly-Pro.				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCAGGCGGTGGGGGTGGTGAG	0.736000														12			11		0	0	0.000978	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244835	1244835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1244835C>T	uc003jby.2	+	10	1732	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	537					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTACATCATCCTCCTGTTCTG	0.612000														47			11		0	0	0.000978	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429958	80429958	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:80429958C>T	uc002bfe.2	+	6	1037	c.615C>T	c.(613-615)atC>atT	p.I205I	ZFAND6_uc021srv.1_Silent_p.I167I|ZFAND6_uc021srw.1_Silent_p.I205I|ZFAND6_uc002bfg.2_Silent_p.I193I|ZFAND6_uc002bff.2_Silent_p.I205I|ZFAND6_uc021srx.1_Silent_p.I205I|ZFAND6_uc021sry.1_Silent_p.I205I|ZFAND6_uc002bfh.2_Silent_p.I205I|ZFAND6_uc002bfi.2_Silent_p.I205I	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	205							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GTGAAAAGATCCAAAAGATTT	0.358000														36			10		0	0	0.006214	0	0
PROL1	58503	broad.mit.edu	37	4	71275199	71275199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71275199C>T	uc003hfi.3	+	2	328	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	52	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCCCCACCTCCCTATGACTC	0.502000														41			34		0	0	0.003755	0	0
RERGL	79785	broad.mit.edu	37	12	18237579	18237579	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18237579G>A	uc001rdq.3	-	4	401	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	69	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CACTTGTGAGGGAGAATTTTG	0.378000														18			42		0	0	0.003214	0	0
SUPT6H	6830	broad.mit.edu	37	17	27026844	27026845	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27026844_27026845CC>AT	uc010crt.3	+	33	4686_4687	c.4494_4495CC>AT	c.(4492-4497)ggccag>ggATag	p.Q1499*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.Q1499*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1499					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGTACCGGGGCCAGATCTTCCC	0.495000														142			24		0	0	0.004672	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083815	42083815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42083815C>T	uc002ore.4	+	1	424	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Nonsense_Mutation_p.Q110*	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	110						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TCTGCATTTCCAGAACGTCAC	0.488000														18			28		0	0	0.006320	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610393	47610393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47610393G>A	uc001cqv.1	+	7	1120	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A22_uc009vyo.3_Missense_Mutation_p.D357N|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	357						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCTGGGTGATGGAGCCTC	0.622000														17			7		0	0	0.001984	0	0
MACROD1	28992	broad.mit.edu	37	11	63918757	63918757	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63918757G>A	uc001nyh.3	-	2	590	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	Homo sapiens MACRO domain containing 1 (MACROD1), mRNA.	157	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTCGCTGCGGAGCAGGGAGA	0.597000														34			13		0	0	0.001368	0	0
FOXA2	3170	broad.mit.edu	37	20	22562714	22562714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:22562714G>A	uc002wsm.3	-	1	1351	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	FOXA2_uc002wsn.3_Missense_Mutation_p.S383F	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	383	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTCCGAGGACATGAGGTT	0.637000														10			25		0	0	0.002780	0	0
DNPEP	23549	broad.mit.edu	37	2	220239721	220239721	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220239721G>A	uc002vle.2	-	13	1409	c.1263C>T	c.(1261-1263)acC>acT	p.T421T	DNPEP_uc002vli.2_Silent_p.T368T|DNPEP_uc010zlg.2_Silent_p.T429T	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	411					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TTCCACAGGGGGTGTCATTCC	0.567000														13			9		0	0	0.000673	0	0
TNIP3	79931	broad.mit.edu	37	4	122075770	122075770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122075770C>T	uc021xrj.1	-	7	738	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TNIP3_uc010ing.3_Missense_Mutation_p.G143E|TNIP3_uc011cgj.2_Missense_Mutation_p.G213E|TNIP3_uc010ini.3_Missense_Mutation_p.G143E	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	143										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGTATTTTTTCCCTTTAAAAG	0.333000														23			14		0	0	0.001855	0	0
TROAP	10024	broad.mit.edu	37	12	49723655	49723655	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49723655C>A	uc009zlh.3	+	11	1347	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	TROAP_uc001rtx.4_Silent_p.R394R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	394					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTTGCCGTCCGGTTGTTTGA	0.577000														327			8		0.000274275	0.000430906	0.004482	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26877901	26877901	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26877901C>T	uc001bmr.1	+	4	484	c.321C>T	c.(319-321)gtC>gtT	p.V107V	RPS6KA1_uc010ofe.1_Silent_p.V15V|RPS6KA1_uc010off.1_Silent_p.V91V|RPS6KA1_uc001bms.1_Silent_p.V116V|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	107	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGACCGCGTCCGGACCAAGA	0.552000														19			11		0	0	0.002450	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:120475859G>A	uc004bjz.3	+	2	1744	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_uc004bkb.3_Missense_Mutation_p.E285K|TLR4_uc004bka.3_Missense_Mutation_p.E445K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	485					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000														34			22		0	0	0.001523	0	0
CSF1	1435	broad.mit.edu	37	1	110466433	110466433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110466433C>T	uc001dyu.2	+	5	1603	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P397L|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	397					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCAGAGACCCCCCGGAGCCA	0.662000														25			14		0	0	0.004007	0	0
DHRS2	10202	broad.mit.edu	37	14	24114078	24114078	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24114078C>T	uc001wkt.4	+	7	1176	c.729C>T	c.(727-729)atC>atT	p.I243I	DHRS2_uc001wku.4_Missense_Mutation_p.H240Y|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	p.Q243R(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CAAGGAACATCATCAGCTGCA	0.512000														68			15		0	0	0.004990	0	0
PCNX	22990	broad.mit.edu	37	14	71543100	71543100	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71543100C>T	uc001xmo.2	+	27	5747	c.5301C>T	c.(5299-5301)ctC>ctT	p.L1767L	PCNX_uc010are.1_Silent_p.L1656L|PCNX_uc010arf.1_Silent_p.L555L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1767						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTTACCTCAACTGGATAG	0.413000														10			20		0	0	0.002780	0	0
FMN2	56776	broad.mit.edu	37	1	240286552	240286552	+	Silent	SNP	C	T	T	rs141488751		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240286552C>T	uc010pye.2	+	1	1914	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	FMN2_uc010pyd.2_Silent_p.S563S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	563					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)			AGTTTTGCTCCCGGATCATTG	0.493000														40			44		0	0	0.002222	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620102	40620102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40620102C>T	uc002hzs.3	+	3	438	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.P91S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.P91S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.P91S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.P91S|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P91S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	91					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGTTCCCTTCCCCCGGGACAT	0.398000														30			10		0	0	0.001855	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778497	5778497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5778497C>T	uc002mda.3	+	21	2268	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	736						integral to membrane											ATCCTGGGGTCCGTTTGGCTG	0.572000														41			20		0	0	0.001523	0	0
CCL21	6366	broad.mit.edu	37	9	34710039	34710039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:34710039G>A	uc003zvo.3	-	0	109	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_002989	NP_002980	O00585	CCL21_HUMAN	Homo sapiens chemokine (C-C motif) ligand 21 (CCL21), mRNA.	9					T cell costimulation|activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGGATAAGGAGGCTCAGAGCC	0.607000														4			6		0	0	0.001984	0	0
EVPL	2125	broad.mit.edu	37	17	74004206	74004206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74004206C>T	uc010wss.1	-	21	5374	c.5146G>A	c.(5146-5148)Ggg>Agg	p.G1716R	EVPL_uc002jqi.2_Missense_Mutation_p.G1694R|EVPL_uc010wst.1_Missense_Mutation_p.G1164R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1694	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGTCCTTCCCCGTCTCGGGT	0.617000														68			21		0	0	0.001882	0	0
SELL	6402	broad.mit.edu	37	1	169672473	169672473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:169672473C>T	uc010pls.2	-	3	843	c.734G>A	c.(733-735)gGa>gAa	p.G245E	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.G305E|SELL_uc001ggl.2_Missense_Mutation_p.G305E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	292	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAACTCAGTTCCTTCTGAGCA	0.438000														12			30		0	0	0.007291	0	0
MATK	4145	broad.mit.edu	37	19	3778381	3778381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:3778381G>A	uc002lyt.3	-	13	1724	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	MATK_uc002lyv.3_Missense_Mutation_p.R443C|MATK_uc002lyu.3_Missense_Mutation_p.R401C|MATK_uc010dtq.3_Missense_Mutation_p.R441C	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	442	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTCCATGCGGTACCCCTTC	0.697000														43			13		0	0	0.004990	0	0
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18767315C>T	uc003sui.3	+	11	1885	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	HDAC9_uc003sue.3_Missense_Mutation_p.S612F|HDAC9_uc011jyd.2_Missense_Mutation_p.S612F|HDAC9_uc003suh.3_Missense_Mutation_p.S612F|HDAC9_uc003suj.3_Missense_Mutation_p.S571F|HDAC9_uc003sua.1_Missense_Mutation_p.S590F|HDAC9_uc010kue.1_Missense_Mutation_p.S267F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	612					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTCACTCTTCCCCTGCTGCC	0.587000														16			14		0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13901467	13901467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13901467G>A	uc003jfd.2	-	13	1988	c.1946C>T	c.(1945-1947)gCt>gTt	p.A649V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	649	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTAGCACAGCTGGGTGCTG	0.557000									Kartagener syndrome					18			35		0	0	0.005524	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4475533	4475533	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4475533C>T	uc002mao.3	+	2	334	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	HDGFRP2_uc002map.3_Silent_p.L81L|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	81					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CAATGAAGGGCTGTGGGAGAT	0.577000														44			5		0	0	0.000602	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653108	46653108	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46653108T>G	uc003bhh.3	-	0	6112	c.6112A>C	c.(6112-6114)Att>Ctt	p.I2038L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2038					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGAAAGGGAATGAAGTCTTCT	0.383000														77			20		0	0	0.001882	0	0
KLHDC10	23008	broad.mit.edu	37	7	129760665	129760665	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129760665C>T	uc003vpj.2	+	3	687	c.552C>T	c.(550-552)gtC>gtT	p.V184V	KLHDC10_uc003vpk.2_Silent_p.V155V|KLHDC10_uc010lmb.2_Silent_p.V81V	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCAATGACGTCCATGTGTGTA	0.483000														177			36		0	0	0.004878	0	0
SCO1	6341	broad.mit.edu	37	17	10600885	10600885	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10600885C>T	uc002gmr.4	-	1	1	c.-60_splice	c.e1-1		C17orf48_uc002gmv.3_5'Flank|C17orf48_uc002gmt.3_5'Flank|C17orf48_uc002gmu.3_5'Flank	NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.						cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GTTCCGCTTCCTCCGGAAGTC	0.647000														8			4		0	0	0.000248	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477410	110477410	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110477410G>A	uc003yne.3	+	48	8453	c.8349G>A	c.(8347-8349)ccG>ccA	p.P2783P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2783					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCACACACCGAACAAGGCTG	0.408000										HNSCC(38;0.096)				30			37		0	0	0.005524	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926862	43926862	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43926862C>T	uc010yny.2	+	7	848	c.765C>T	c.(763-765)acC>acT	p.T255T	PLEKHH2_uc002rte.3_Silent_p.T255T|PLEKHH2_uc002rtf.3_Silent_p.T254T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	255						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCATCAAACCCCTTGTGGCT	0.443000														132			161		0	0	0.003610	0	0
IGSF6	10261	broad.mit.edu	37	16	21658603	21658603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21658603C>T	uc002djg.2	-	1	346	c.278G>A	c.(277-279)aGg>aAg	p.R93K	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron|IGSF6_uc010vbi.2_Missense_Mutation_p.R93K	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	93	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		GAGGGCCTCCCTCACTGTGAA	0.502000														53			15		0	0	0.004007	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:103338393G>A	uc022ajr.1	-	9	1210	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_uc022ajq.1_Silent_p.I350I|RELN_uc010liz.3_Silent_p.I350I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000														62			94		0	0	0.003610	0	0
MYOCD	93649	broad.mit.edu	37	17	12655976	12655976	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:12655976G>A	uc002gno.2	+	9	1670	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	MYOCD_uc002gnn.2_Silent_p.P457P|MYOCD_uc002gnp.1_Silent_p.P361P|MYOCD_uc002gnq.2_Silent_p.P176P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	457	Ser-rich.				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			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)		CCAGCCCCCCGATCTCCCCAG	0.627000														54			13		0	0	0.003163	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	A	A	rs145373937		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:26734223G>A	uc001mra.2	-	1	683	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.R124C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000														33			130		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398091	77398091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:77398091C>T	uc002ffc.4	-	4	1385	c.966G>A	c.(964-966)atG>atA	p.M322I	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Missense_Mutation_p.M18I|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.	322	Peptidase M12B.				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						TTACCATGTTCATTACTGTGA	0.453000														66			51		0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126293	121126293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121126293G>A	uc003eec.4	+	23	3003	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	STXBP5L_uc011bji.2_Missense_Mutation_p.E931K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	955					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATCTGCTCAGAAAAACAAGC	0.378000														57			8		0	0	0.003080	0	0
DNAH2	146754	broad.mit.edu	37	17	7682739	7682739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7682739C>T	uc002giu.1	+	34	5734	c.5720C>T	c.(5719-5721)cCt>cTt	p.P1907L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1907	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCATGAATCCTGGTAGGTGG	0.537000														17			12		0	0	0.001855	0	0
BCL11B	64919	broad.mit.edu	37	14	99737530	99737530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:99737530G>A	uc001yga.3	-	0	293	c.26C>T	c.(25-27)cCg>cTg	p.P9L	BCL11B_uc001ygb.3_Missense_Mutation_p.P9L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	9						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAAGTGCTGCGGGTTGCCCTG	0.701000			T	TLX3	T-ALL									7			3		0	0	0.000248	0	0
MYO3B	140469	broad.mit.edu	37	2	171371488	171371488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171371488G>A	uc002ufy.3	+	28	3571	c.3428G>A	c.(3427-3429)gGa>gAa	p.G1143E	MYO3B_uc002ufv.3_Missense_Mutation_p.G1130E|MYO3B_uc010fqb.1_Missense_Mutation_p.G1143E|MYO3B_uc002ufz.3_Missense_Mutation_p.G1116E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1143					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGTACGAGGGGAAGTGCCGAG	0.498000														21			9		0	0	0.000978	0	0
MEGF10	84466	broad.mit.edu	37	5	126792879	126792879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:126792879C>T	uc003kuh.4	+	25	3654	c.3292C>T	c.(3292-3294)Cca>Tca	p.P1098S	MEGF10_uc003kui.4_Missense_Mutation_p.P1098S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1098	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCCCAGGATCCATATGACCT	0.463000														81			54		0	0	0.003610	0	0
LCP1	3936	broad.mit.edu	37	13	46725188	46725188	+	Silent	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:46725188A>C	uc001vaz.4	-	7	891	c.765T>G	c.(763-765)ggT>ggG	p.G255G	LCP1_uc001vba.4_Silent_p.G255G	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	255	Actin-binding 1.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCAGGCTCTCACCTTCTCTCA	0.453000			T	BCL6	NHL									19			14		0	0	0.004990	0	0
RANBP9	10048	broad.mit.edu	37	6	13632704	13632704	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:13632704G>A	uc003nbb.3	-	11	1904	c.1845C>T	c.(1843-1845)gcC>gcT	p.A615A	RANBP9_uc003nba.3_Silent_p.A274A	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	615	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TTTCTATGGCGGCCTGACTTC	0.413000														72			96		0	0	0.003610	0	0
AOAH	313	broad.mit.edu	37	7	36657921	36657921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:36657921C>T	uc022abu.1	-	9	1134	c.733G>A	c.(733-735)Gag>Aag	p.E245K	AOAH_uc003tfh.4_Missense_Mutation_p.E245K|AOAH_uc011kba.2_Missense_Mutation_p.E213K	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	245					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			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						AATTTCTTCTCATATGGAACT	0.338000														92			30		0	0	0.002445	0	0
RP1	6101	broad.mit.edu	37	8	55538600	55538600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538600C>T	uc003xsd.1	+	3	2306	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	720					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)			TTCAGATAGTCCCCTTAAAGG	0.348000														10			11		0	0	0.000673	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007339	32007339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32007339C>T	uc003nze.2	+	4	673	c.566C>T	c.(565-567)cCt>cTt	p.P189L	CYP21A2_uc003nzf.2_Missense_Mutation_p.P159L	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	188					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AACTTAATGCCTGCCTATTAC	0.542000														56			107		0	0	0.003610	0	0
MYO1A	4640	broad.mit.edu	37	12	57424075	57424075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57424075G>A	uc001smw.4	-	23	2750	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F	MYO1A_uc010sqz.2_Missense_Mutation_p.S675F|MYO1A_uc009zpd.3_Missense_Mutation_p.S837F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	837					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGCTTCGGGGACAGCTGATC	0.562000														196			24		0	0	0.001512	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795916	21795916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:21795916G>A	uc001wag.3	+	16	2845	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	RPGRIP1_uc001wah.3_Missense_Mutation_p.D591N|RPGRIP1_uc001wai.3_Missense_Mutation_p.D275N|RPGRIP1_uc001wak.3_Missense_Mutation_p.D424N|RPGRIP1_uc010aim.3_Missense_Mutation_p.D332N|RPGRIP1_uc001wal.3_Missense_Mutation_p.D308N|RPGRIP1_uc001wam.3_Missense_Mutation_p.D266N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	949					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGATACCAAGGACAGTTCAAA	0.478000														22			20		0	0	0.001523	0	0
GPR125	166647	broad.mit.edu	37	4	22422588	22422588	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22422588C>A	uc003gqm.1	-	11	1995	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_uc010ieo.1_Missense_Mutation_p.R451L|GPR125_uc003gqn.1_Missense_Mutation_p.R351L|GPR125_uc003gqo.3_Missense_Mutation_p.R577L	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	577					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R577L(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468000														226			7		0.000157383	0.000247384	0.003080	1	0
GAA	2548	broad.mit.edu	37	17	78086482	78086482	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78086482C>T	uc002jxp.3	+	12	2227	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	GAA_uc002jxo.3_Silent_p.S620S|GAA_uc002jxq.3_Silent_p.S620S	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	620					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGTGGAGCTCCTGGGAGCAGC	0.687000														11			13		0	0	0.002450	0	0
DOCK11	139818	broad.mit.edu	37	X	117680003	117680003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:117680003C>T	uc004eqp.2	+	5	545	c.482C>T	c.(481-483)tCt>tTt	p.S161F		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	161					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTTTATGTTCTCAGAAGGGT	0.363000														6			37		0	0	0.006230	0	0
PSMB7	5695	broad.mit.edu	37	9	127119142	127119142	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127119142T>C	uc004boj.3	-	6	640	c.623A>G	c.(622-624)aAc>aGc	p.N208S	PSMB7_uc010mwm.3_3'UTR|LOC100129034_uc010mwl.3_Non-coding_Transcript	NM_002799	NP_002790	Q99436	PSB7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA.	208					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						GCCCAGGTCGTTGAAGATGCC	0.557000														36			15		0	0	0.004990	0	0
GPR153	387509	broad.mit.edu	37	1	6314159	6314159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:6314159C>T	uc001amp.2	-	2	665	c.405G>A	c.(403-405)tgG>tgA	p.W135*		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	135						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		AGGACACCATCCAGATACCCA	0.622000														12			20		0	0	0.002299	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580519	178580519	+	Silent	SNP	G	A	A	rs147438064	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178580519G>A	uc003mjw.3	-	8	1590	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ADAMTS2_uc011dgm.2_Silent_p.F496F	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	496	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCCAGGCCGAAGTCAAAGC	0.672000														25			5		0	0	0.001168	0	0
CPNE7	27132	broad.mit.edu	37	16	89661997	89661997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89661997C>T	uc002fnp.3	+	15	1880	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	CPNE7_uc002fnq.3_Missense_Mutation_p.R509W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	584					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CGTGCCCTTCCGGGAGCTCAA	0.667000														34			16		0	0	0.004007	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203637	94203637	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:94203637G>A	uc001ybw.1	-	3	351	c.309C>T	c.(307-309)tcC>tcT	p.S103S	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	103					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAAACACCAGGGAGGCACAGC	0.537000														4			26		0	0	0.001512	0	0
PCNT	5116	broad.mit.edu	37	21	47831942	47831942	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47831942C>T	uc002zji.4	+	27	6062	c.5955C>T	c.(5953-5955)tcC>tcT	p.S1985S	PCNT_uc002zjj.3_Silent_p.S1867S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1985					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGAGGCCTCCCATGATGCTG	0.642000														39			8		0	0	0.000673	0	0
TNIK	23043	broad.mit.edu	37	3	170879094	170879094	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:170879094C>T	uc003fhh.2	-	10	1326	c.981G>A	c.(979-981)gaG>gaA	p.E327E	TNIK_uc003fhi.2_Silent_p.E327E|TNIK_uc003fhj.2_Silent_p.E327E|TNIK_uc003fhk.2_Silent_p.E327E|TNIK_uc003fhl.2_Silent_p.E327E|TNIK_uc003fhm.2_Silent_p.E327E|TNIK_uc003fhn.2_Silent_p.E327E|TNIK_uc003fho.2_Silent_p.E327E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	327	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCTTCTTCCTCACTTCCAC	0.448000														35			17		0	0	0.006122	0	0
STAB2	55576	broad.mit.edu	37	12	104077010	104077010	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:104077010C>T	uc001tjw.3	+	25	3019	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	945	EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAAGGATTTCGAGGAAATGG	0.383000														6			31		0	0	0.004289	0	0
RSAD1	55316	broad.mit.edu	37	17	48559688	48559688	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48559688C>T	uc002iqw.1	+	3	767	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	237					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGCACTCTTCGCCCAGGTGC	0.682000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			29		0	0	0.004289	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555703	145555703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145555703G>A	uc001eob.1	+	1	159	c.51G>A	c.(49-51)tgG>tgA	p.W17*	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	17										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAGAGATGGAACCGCCATG	0.567000														52			6		0	0	0.003080	0	0
SGTA	6449	broad.mit.edu	37	19	2762546	2762546	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2762546G>A	uc002lwi.1	-	6	741	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	198					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCTTGAGGTTGGACTTGT	0.642000														65			19		0	0	0.001523	0	0
PCBP2	5094	broad.mit.edu	37	12	53848587	53848587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53848587G>A	uc001sdl.4	+	1	353	c.3G>A	c.(1-3)atG>atA	p.M1I	PCBP2_uc001sde.4_Missense_Mutation_p.M1I|PCBP2_uc001sdi.4_Missense_Mutation_p.M1I|PCBP2_uc001sdd.4_Missense_Mutation_p.M1I|PCBP2_uc001sdf.4_Missense_Mutation_p.M1I|PCBP2_uc001sdc.4_Missense_Mutation_p.M1I|PCBP2_uc001sdb.4_Missense_Mutation_p.M1I|PCBP2_uc010soh.1_Missense_Mutation_p.M1I	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	1					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGCTCGACATGGACACCGGTG	0.463000														71			30		0	0	0.001786	0	0
GCM1	8521	broad.mit.edu	37	6	52993217	52993217	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:52993217C>T	uc003pbp.3	-	5	1307	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	366						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGTACTTTCTCTTCATAAA	0.488000														173			28		0	0	0.004656	0	0
FAM47B	170062	broad.mit.edu	37	X	34961077	34961077	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34961077G>A	uc004ddi.2	+	0	165	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	43										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCGCCTGTGGACACCCAGA	0.572000														3			20		0	0	0.002299	0	0
DNAH9	1770	broad.mit.edu	37	17	11597185	11597185	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11597185G>A	uc002gne.3	+	21	4683	c.4615_splice	c.e21-1	p.D1539_splice	DNAH9_uc010coo.3_Splice_Site_p.D833_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1539	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTATTTGCAGGATTCTAAAAG	0.438000														52			12		0	0	0.001368	0	0
MMRN2	79812	broad.mit.edu	37	10	88704965	88704965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88704965C>T	uc001kea.3	-	3	588	c.461G>A	c.(460-462)gGa>gAa	p.G154E	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.G111E	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	154						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCTGACTGGTCCATCCTGAGG	0.552000														15			20		0	0	0.003330	0	0
RUNX2	860	broad.mit.edu	37	6	45296521	45296521	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:45296521G>A	uc011dvx.2	+	2	268	c.58_splice	c.e2+1	p.D20_splice	SUPT3H_uc003oxn.1_Intron|SUPT3H_uc003oxo.3_Intron|SUPT3H_uc003oxp.3_Intron|SUPT3H_uc011dvv.2_Intron|RUNX2_uc011dvy.2_Splice_Site_p.D20_splice|RUNX2_uc003oxs.1_Splice_Site	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	20					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCTTTTGGGGTAAGTGTTA	0.358000														22			39		0	0	0.002852	0	0
CXCR7	57007	broad.mit.edu	37	2	237489121	237489121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237489121C>T	uc021vys.1	+	0	13	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	CXCR7_uc010fyq.3_Missense_Mutation_p.L5F|CXCR7_uc002vwd.3_Missense_Mutation_p.L5F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	5					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGATCTGCATCTCTTCGACTA	0.488000														15			20		0	0	0.001523	0	0
RFX5	5993	broad.mit.edu	37	1	151314837	151314837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151314837G>A	uc001exv.1	-	10	1890	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	RFX5_uc001exw.1_Missense_Mutation_p.P559L|RFX5_uc010pcx.1_Missense_Mutation_p.P519L	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	559						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGACCAAGGGAATTTTATC	0.522000														120			26		0	0	0.004656	0	0
POF1B	79983	broad.mit.edu	37	X	84559434	84559434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:84559434C>T	uc004eer.2	-	13	1627	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	POF1B_uc004ees.3_Missense_Mutation_p.G494E	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	494							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACAACTTCCTTCTCTCTT	0.338000														1			20		0	0	0.001216	0	0
CHRM1	1128	broad.mit.edu	37	11	62677552	62677552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62677552G>A	uc021qko.1	-	0	1021	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	CHRM1_uc001nwi.3_Nonsense_Mutation_p.Q341*	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	341					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CGGGGCTTCTGGCCCTTGCCA	0.637000														17			25		0	0	0.005443	0	0
PIGL	9487	broad.mit.edu	37	17	16221109	16221109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:16221109C>T	uc002gpv.3	+	5	579	c.547C>T	c.(547-549)Cag>Tag	p.Q183*		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	183					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GCTCACGCTTCAGTCTGTGAA	0.537000														55			26		0	0	0.007291	0	0
ABCA13	154664	broad.mit.edu	37	7	48356767	48356767	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:48356767G>A	uc003toq.2	+	26	9897	c.9873G>A	c.(9871-9873)ttG>ttA	p.L3291L	ABCA13_uc010kys.1_Silent_p.L365L|ABCA13_uc003tos.1_Silent_p.L117L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3291					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						CGTTTTGCTTGAAGCTTTATC	0.378000														36			14		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202248	140202248	+	Silent	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140202248T>G	uc003lhl.2	+	0	888	c.888T>G	c.(886-888)tcT>tcG	p.S296S	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_uc003lhk.1_Silent_p.S296S|PCDHAC2_uc003lhj.1_Silent_p.S296S	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	312	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATTAATTCTAATACTGGTG	0.313000														26			8		0	0	0.006214	0	0
ANKRD12	23253	broad.mit.edu	37	18	9208710	9208710	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:9208710C>T	uc002knv.3	+	4	624	c.360C>T	c.(358-360)tcC>tcT	p.S120S	ANKRD12_uc010wzn.2_Silent_p.S120S|ANKRD12_uc002knw.3_Silent_p.S97S|ANKRD12_uc002knx.3_Silent_p.S97S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	120						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAAGAAATCCACACCAGTTA	0.373000														8			29		0	0	0.006320	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975249	31975249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31975249G>A	uc010gek.3	-	5	759	c.635C>T	c.(634-636)cCc>cTc	p.P212L	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.P122L|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.P212L|CDK5RAP1_uc002wza.3_Missense_Mutation_p.P212L|CDK5RAP1_uc010gel.3_Missense_Mutation_p.P122L|CDK5RAP1_uc010gem.3_Missense_Mutation_p.P212L|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.P212L|CDK5RAP1_uc010gen.3_Missense_Mutation_p.P212L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	212	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAGCAGCCGGGGAAGGTCCCG	0.567000														109			61		0	0	0.003610	0	0
TRPM8	79054	broad.mit.edu	37	2	234871952	234871952	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234871952C>T	uc002vvh.3	+	12	1720	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	TRPM8_uc010fyj.3_Silent_p.P248P	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	560						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCGGCACCCCCTGCAAGCTC	0.507000														18			14		0	0	0.004990	0	0
CD2	914	broad.mit.edu	37	1	117307122	117307122	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117307122C>G	uc001egu.4	+	3	659	c.630C>G	c.(628-630)atC>atG	p.I210M	CD2_uc010owz.1_Missense_Mutation_p.I210M|CD2_uc010oxa.1_Missense_Mutation_p.S153C	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	210					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GTCTGGACATCTATCTCATCA	0.507000														27			17		0	0	0.001523	0	0
FCGBP	8857	broad.mit.edu	37	19	40363962	40363962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40363962C>T	uc002omp.4	-	30	14688	c.14680G>A	c.(14680-14682)Gac>Aac	p.D4894N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4894	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGGAAAAGTCCTCGTCCCCA	0.582000														47			10		0	0	0.006214	0	0
DNM3	26052	broad.mit.edu	37	1	172002338	172002338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172002338C>T	uc001gie.3	+	5	958	c.782C>T	c.(781-783)tCc>tTc	p.S261F	DNM3_uc001gid.4_Missense_Mutation_p.S261F|DNM3_uc009wwb.2_Missense_Mutation_p.S261F|DNM3_uc001gif.3_Missense_Mutation_p.S261F	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	261					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCCTTTCCCACCCGGCT	0.473000														21			7		0	0	0.001984	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73480030C>T	uc003xzb.3	+	1	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000														58			51		0	0	0.003610	0	0
DOCK4	9732	broad.mit.edu	37	7	111584865	111584865	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:111584865C>T	uc003vfy.3	-	10	1113	c.844_splice	c.e10+1	p.G282_splice	DOCK4_uc003vfx.3_Splice_Site_p.G282_splice|DOCK4_uc003vga.1_Splice_Site|DOCK4_uc010ljt.1_Splice_Site_p.G282_splice	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	282					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTTATACCTACCGATTCGGAT	0.403000														49			28		0	0	0.001786	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744114	31744114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31744114G>A	uc002ynz.4	-	0	444	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	140						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCATAGCCGAGGGAAGGGAAG	0.572000														21			11		0	0	0.001855	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707874	26707874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26707874G>A	uc003acb.3	+	7	2018	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	SEZ6L_uc003acd.3_Missense_Mutation_p.E608K|SEZ6L_uc011akd.2_Missense_Mutation_p.E608K|SEZ6L_uc003ace.3_Missense_Mutation_p.E608K|SEZ6L_uc011akc.2_Missense_Mutation_p.E608K|SEZ6L_uc003acc.3_Missense_Mutation_p.E608K|SEZ6L_uc003acf.1_Missense_Mutation_p.E381K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E381K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	608	Sushi 2.					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						GGCCATCATCGAATGCATCAA	0.592000														20			162		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219892725	219892725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219892725C>T	uc002vjl.1	-	12	1942	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	CCDC108_uc010fwa.1_Missense_Mutation_p.E63K|CCDC108_uc010zkp.1_Missense_Mutation_p.E609K|CCDC108_uc010zkq.1_Missense_Mutation_p.E555K	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	620						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCATGTCCTCCAGATCCTGC	0.577000														34			24		0	0	0.006320	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:137423581G>A	uc011cyk.1	+	2	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_uc011cyj.1_Missense_Mutation_p.E128K|WNT8A_uc003lcd.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	110					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000														128			29		0	0	0.007291	0	0
SCN8A	6334	broad.mit.edu	37	12	52200906	52200906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52200906C>T	uc001ryw.3	+	26	5814	c.5636C>T	c.(5635-5637)tCc>tTc	p.S1879F	SCN8A_uc010snl.2_Missense_Mutation_p.S1838F|hCG_1997999_uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1879					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCAATCCTTCCAAAGTGTCT	0.572000														103			42		0	0	0.006999	0	0
ACSM1	116285	broad.mit.edu	37	16	20696537	20696537	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20696537C>T	uc002dhm.1	-	1	449	c.381G>A	c.(379-381)gtG>gtA	p.V127V	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.V127V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	127					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCCCACAGCCACCAGCCACC	0.577000														47			10		0	0	0.000673	0	0
LAMA3	3909	broad.mit.edu	37	18	21534610	21534610	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21534610T>C	uc002kuq.3	+	74	10086	c.10000T>C	c.(10000-10002)Taa>Caa	p.*3334Q	LAMA3_uc002kur.3_Nonstop_Mutation_p.*3278Q|LAMA3_uc002kus.4_Nonstop_Mutation_p.*1725Q|LAMA3_uc002kut.4_Nonstop_Mutation_p.*1669Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	0					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)	TCCTGACCAGTAACCCAAGCC	0.498000														41			58		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	36167498	36167498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:36167498G>A	uc021rid.1	+	46	7744	c.7210G>A	c.(7210-7212)Gat>Aat	p.D2404N	NBEA_uc021ric.1_Missense_Mutation_p.D2401N|NBEA_uc010abi.3_Missense_Mutation_p.D1060N|NBEA_uc010tee.1_Missense_Mutation_p.D197N|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.D197N|NBEA_uc010teg.1_Missense_Mutation_p.D197N|NBEA_uc001uvd.3_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2404	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.D2404Y(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAATGCAAATGATGGAAAATT	0.398000														33			24		0	0	0.004656	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073389	8073389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:8073389G>A	uc001aoz.3	-	3	1519	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	424					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GGTAATGGCTGGATTTGGGCG	0.423000														15			25		0	0	0.002780	0	0
C9orf86	55684	broad.mit.edu	37	9	139733691	139733691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139733691C>T	uc004cjj.1	+	11	1971	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	C9orf86_uc004cji.1_Missense_Mutation_p.S504L|C9orf86_uc004cjk.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.S389L|C9orf86_uc004cjn.1_Missense_Mutation_p.S298L	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	504					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		ATACCAGCTTCGAAGCCACGG	0.672000														4			6		0	0	0.001168	0	0
PAAF1	80227	broad.mit.edu	37	11	73627595	73627595	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73627595C>T	uc001ouk.1	+	8	859	c.825C>T	c.(823-825)ttC>ttT	p.F275F	PAAF1_uc001oul.1_Silent_p.F258F|PAAF1_uc001oum.1_Silent_p.F258F	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	275					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CCCAGGTGTTCCTCTTTATTG	0.383000														51			13		0	0	0.002450	0	0
BRCA1	672	broad.mit.edu	37	17	41223166	41223166	+	Missense_Mutation	SNP	G	A	A	rs80357002		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:41223166G>A	uc002icq.3	-	14	4997	c.4765C>T	c.(4765-4767)Cgt>Tgt	p.R1589C	BRCA1_uc010whp.2_Missense_Mutation_p.R438C|BRCA1_uc010whl.2_Missense_Mutation_p.R485C|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R1518C|BRCA1_uc002icu.3_Missense_Mutation_p.R485C|BRCA1_uc010cyx.3_Missense_Mutation_p.R1542C|BRCA1_uc002ict.3_Missense_Mutation_p.R1610C|BRCA1_uc010whn.2_Missense_Mutation_p.R80C|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R318C|BRCA1_uc002idc.1_Missense_Mutation_p.R485C|BRCA1_uc010whr.1_Missense_Mutation_p.R439C	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1589					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGCCAACACGAGCTGACTCT	0.483000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				152			49		0	0	0.003610	0	0
TRIM69	140691	broad.mit.edu	37	15	45047124	45047124	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45047124C>T	uc001zuf.2	+	2	928	c.33C>T	c.(31-33)atC>atT	p.I11I	TRIM69_uc001zug.1_Silent_p.I11I|TRIM69_uc001zuh.1_Intron|TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	11	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.I11I(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCTCCAACATCGATCCAGGCG	0.433000														67			39		0	0	0.007835	0	0
ZFP106	64397	broad.mit.edu	37	15	42742972	42742972	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42742972T>C	uc001zpw.3	-	1	1756	c.1429A>G	c.(1429-1431)Aaa>Gaa	p.K477E	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.K260E|ZFP106_uc001zpy.1_Missense_Mutation_p.K500E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	477						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AAATTTGTTTTGGTGTTTTTT	0.398000														88			83		0	0	0.003610	0	0
NDC80	10403	broad.mit.edu	37	18	2590052	2590052	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:2590052C>T	uc002kli.3	+	9	1088	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	302	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGAAGGCTTCCTTACAAGGAG	0.323000														17			9		0	0	0.006214	0	0
UTP20	27340	broad.mit.edu	37	12	101693480	101693480	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:101693480A>T	uc001tia.1	+	12	1607	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	484					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGCAGAAGAAGACTAGATCC	0.318000														6			33		0	0	0.002445	0	0
C15orf57	90416	broad.mit.edu	37	15	40855073	40855073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40855073G>A	uc001zma.1	-	1	442	c.169C>T	c.(169-171)Cct>Tct	p.P57S	C15orf57_uc001zly.3_Missense_Mutation_p.P46S|C15orf57_uc001zmc.1_Missense_Mutation_p.P48S|C15orf57_uc001zmb.1_Missense_Mutation_p.P48S|C15orf57_uc010bbr.3_Missense_Mutation_p.P46S	NM_001080791	NP_443081	Q9BV29	CO057_HUMAN	Homo sapiens chromosome 15 open reading frame 57 (C15orf57), transcript variant 3, mRNA.	48										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCACCTTCAGGGCAAGAATCC	0.502000														91			57		0	0	0.003610	0	0
ITIH4	3700	broad.mit.edu	37	3	52858519	52858519	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52858519G>A	uc011bem.2	-	7	967	c.939C>T	c.(937-939)atC>atT	p.I313I	ITIH4_uc011bel.2_Silent_p.I43I|ITIH4_uc003dfy.3_Silent_p.I177I|ITIH4_uc003dfz.3_Silent_p.I313I|ITIH4_uc011ben.2_Silent_p.I313I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	313	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TACTGAAGACGATGAGGTTGA	0.577000														25			32		0	0	0.004289	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022405	20022405	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:20022405G>A	uc011kyq.2	-	10	1461	c.990C>T	c.(988-990)acC>acT	p.T330T	SLC18A1_uc003wzm.3_Silent_p.T330T|SLC18A1_uc011kyr.2_Silent_p.T330T|SLC18A1_uc003wzn.3_Intron|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	330					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGGAGCACATGGTCTGCATCA	0.612000														9			10		0	0	0.000978	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366065	47366065	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47366065G>A	uc001cqo.1	-	0		c.83C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TCAGCAGCAAGAAGGGGTGAG	0.547000														11			10		0	0	0.000673	0	0
PSG2	5670	broad.mit.edu	37	19	43579635	43579635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43579635G>A	uc002ovr.3	-	2	752	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	194	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCGGACAGCTGAAACCTATGA	0.498000														224			75		0	0	0.003610	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387558	50387558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50387558C>T	uc002pqo.3	+	10	1474	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	TBC1D17_uc010ybg.2_Missense_Mutation_p.P359L|TBC1D17_uc002pqp.3_Missense_Mutation_p.P43L|TBC1D17_uc002pqr.3_Missense_Mutation_p.P43L	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	392	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TACGAGGGTCCCGAGAACCCG	0.637000														72			75		0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	106865176	106865176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:106865176G>A	uc001kyi.1	+	6	1342	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	372						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)		CTCACCTGCAGGATCCAGGAA	0.478000														29			23		0	0	0.002780	0	0
FUS	2521	broad.mit.edu	37	16	31201371	31201371	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31201371C>T	uc002ebf.3	+	10	1182	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	FUS_uc002ebe.2_Silent_p.F355F|FUS_uc002ebg.3_Silent_p.F154F|FUS_uc002ebh.3_Silent_p.F358F|FUS_uc010caj.1_Silent_p.F50F	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	359	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GTAAAGAATTCTCCGGAAATC	0.458000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									8			3		0	0	0.004672	0	0
TXK	7294	broad.mit.edu	37	4	48081967	48081967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48081967C>T	uc003gxx.4	-	10	1221	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.E66K	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	379	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCAGATATTCCATTCCTTCA	0.373000														57			35		0	0	0.006999	0	0
SNAP91	9892	broad.mit.edu	37	6	84311154	84311154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:84311154G>A	uc021zcf.1	-	14	1190	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.S385F|SNAP91_uc011dze.2_Missense_Mutation_p.S385F|SNAP91_uc003pkc.3_Missense_Mutation_p.S385F|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S350F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	387	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.S387Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCAGCCAAAGAATCTATATT	0.423000														4			9		0	0	0.000673	0	0
CYFIP2	26999	broad.mit.edu	37	5	156810362	156810362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156810362C>T	uc021ygm.1	+	27	3337	c.3199C>T	c.(3199-3201)Cct>Tct	p.P1067S	CYFIP2_uc011ddn.2_Missense_Mutation_p.P1042S|CYFIP2_uc011ddo.2_Missense_Mutation_p.P872S|CYFIP2_uc021ygn.1_Missense_Mutation_p.P1067S|CYFIP2_uc021ygo.1_Missense_Mutation_p.P1067S|CYFIP2_uc003lwt.3_Missense_Mutation_p.P971S|CYFIP2_uc011ddp.2_Missense_Mutation_p.P802S	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1093					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGGGGACCCCTCAGGTACC	0.542000														280			39		0	0	0.002222	0	0
DOCK2	1794	broad.mit.edu	37	5	169506038	169506038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169506038C>T	uc003maf.3	+	48	5134	c.5054C>T	c.(5053-5055)tCc>tTc	p.S1685F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.S1177F|DOCK2_uc003mah.3_Missense_Mutation_p.S241F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1685					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAACCGATCTCCCCGGGGAGC	0.557000														78			53		0	0	0.003610	0	0
GPR137	56834	broad.mit.edu	37	11	64056833	64056833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64056833C>T	uc010rni.2	+	8	1452	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P417L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	417						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTGCCGTCCCCCTAGGATGGG	0.652000														33			33		0	0	0.003271	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198732	170198732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:170198732C>T	uc003fgz.2	-	6	1655	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	447						integral to membrane	amino acid transmembrane transporter activity	p.E447V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGTGTGCTCCTCAGACAAG	0.527000														39			37		0	0	0.003755	0	0
MYH1	4619	broad.mit.edu	37	17	10415820	10415820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10415820G>A	uc002gmo.3	-	11	1146	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	351	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CTTATAGATGGACACTCTTTC	0.438000														65			17		0	0	0.004990	0	0
GAK	2580	broad.mit.edu	37	4	860902	860902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:860902G>A	uc003gbm.4	-	20	2913	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	GAK_uc003gbn.4_Missense_Mutation_p.S826F|GAK_uc010ibk.1_Missense_Mutation_p.S799F|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.S769F	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	905					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGTGTTGCTGGAGGGGGCCTT	0.721000														8			6		0	0	0.003080	0	0
SPATA21	374955	broad.mit.edu	37	1	16736305	16736305	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16736305G>A	uc001ayn.3	-	5	861	c.378C>T	c.(376-378)agC>agT	p.S126S	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.S103S	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	126	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTGAGGCAGGCTTGGAGCTG	0.706000														15			11		0	0	0.001368	0	0
DCLK2	166614	broad.mit.edu	37	4	151023715	151023715	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:151023715C>T	uc003ilo.4	+	1	1261	c.507C>T	c.(505-507)atC>atT	p.I169I	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.I169I|DCLK2_uc003iln.4_Silent_p.I169I	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	169					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)					CTGTGAACATCAAGGGTGGGA	0.408000														13			26		0	0	0.005443	0	0
RNMT	8731	broad.mit.edu	37	18	13740181	13740181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:13740181C>T	uc002ksk.1	+	4	762	c.695C>T	c.(694-696)tCt>tTt	p.S232F	RNMT_uc002ksl.1_Missense_Mutation_p.S232F|RNMT_uc002ksm.1_Missense_Mutation_p.S232F|RNMT_uc010dlk.2_Missense_Mutation_p.S232F|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	232					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GCCGATGTTTCTGTCAAACAG	0.393000														8			7		0	0	0.004482	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994883	140994883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140994883C>T	uc004fbt.3	+	3	2017	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P224S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	565							protein binding	p.F564C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTACTTTCCTCAGAGCCC	0.572000										HNSCC(15;0.026)				52			217		0	0	0.003610	0	0
PAMR1	25891	broad.mit.edu	37	11	35515740	35515740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:35515740C>T	uc001mwf.3	-	1	197	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PAMR1_uc001mwg.3_Missense_Mutation_p.E52K|PAMR1_uc010rew.2_Missense_Mutation_p.E52K|PAMR1_uc010rex.2_Missense_Mutation_p.E12K	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	52	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGACGCACTCAATCTGATCA	0.507000														7			57		0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60212431	60212431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:60212431C>T	uc001xen.1	-	1	1219	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	337					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTTACCTGTTCCAGAAGATGG	0.438000														41			27		0	0	0.001786	0	0
SKAP1	8631	broad.mit.edu	37	17	46265269	46265269	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46265269C>T	uc002ini.1	-	5	490	c.378G>A	c.(376-378)tcG>tcA	p.S126S	SKAP1_uc002inj.1_Silent_p.S126S|SKAP1_uc010dbd.1_Silent_p.S32S|SKAP1_uc010dbe.1_Silent_p.S126S	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	126	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTGCCACTCCGATCCAAAGA	0.413000														26			17		0	0	0.007413	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139855	55139855	+	Missense_Mutation	SNP	C	T	T	rs142980928		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:55139855C>T	uc003han.4	+	9	1847	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.L400F|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	506	Ig-like C2-type 5.				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)	GGCTAAGAATCTCCTTGGAGC	0.592000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				33			21		0	0	0.003330	0	0
AKAP6	9472	broad.mit.edu	37	14	33291510	33291510	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:33291510C>T	uc001wrq.3	+	12	4661	c.4491C>T	c.(4489-4491)ccC>ccT	p.P1497P		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1497					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGGAGGATCCCCTGCTTCGTG	0.368000														15			21		0	0	0.001882	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813454	101813454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:101813454C>T	uc003knn.3	-	2	900	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.G243E|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	243						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAGGCATTCCTGCTATTCC	0.408000														87			23		0	0	0.003330	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189534	92189534	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:92189534C>T	uc001xzs.1	-	4	309	c.169_splice	c.e4-1	p.K57_splice		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	57					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACTGGATTTTCTTTAGGAAAG	0.353000														5			15		0	0	0.002450	0	0
TULP4	56995	broad.mit.edu	37	6	158924013	158924013	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:158924013C>T	uc003qrf.3	+	12	4675	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1106					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCTTGAGGCACCCTCCCCTGC	0.632000														15			24		0	0	0.005443	0	0
COL11A2	1302	broad.mit.edu	37	6	33156922	33156922	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33156922G>A	uc003ocx.1	-	2	504	c.276C>T	c.(274-276)acC>acT	p.T92T	COL11A2_uc003ocy.1_Silent_p.T92T|COL11A2_uc003ocz.1_Silent_p.T92T|COL11A2_uc003oda.3_Silent_p.T92T	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	92	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACCAGGGCGGGTCCGGACAA	0.592000														53			33		0	0	0.002445	0	0
CNTN4	152330	broad.mit.edu	37	3	2928832	2928832	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:2928832G>A	uc003bpc.3	+	9	1203	c.864G>A	c.(862-864)gaG>gaA	p.E288E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.E288E|CNTN4_uc003bpd.1_Silent_p.E288E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	288	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.L287I(1)|p.E288D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGCAGGAGGATGCTGGTT	0.398000														23			7		0	0	0.001984	0	0
GCKR	2646	broad.mit.edu	37	2	27730125	27730125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27730125C>T	uc002rky.3	+	12	1156	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	GCKR_uc010ezd.3_Missense_Mutation_p.L362F|GCKR_uc010ylu.2_Missense_Mutation_p.L174F	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	364	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCGTGGCTTTCTCATTGGTGA	0.493000														137			187		0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4566771C>T	uc010qyf.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCATCTTCCTTGCCATGG	0.522000														16			40		0	0	0.002852	0	0
MID1	4281	broad.mit.edu	37	X	10442826	10442826	+	Silent	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:10442826A>T	uc004cta.4	-	0	376	c.246T>A	c.(244-246)ctT>ctA	p.L82L	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Silent_p.L82L|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	326					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGAAATGTCAAGATGACTTT	0.343000														2			31		0	0	0.001786	0	0
NEB	4703	broad.mit.edu	37	2	152520287	152520287	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152520287G>A	uc021vrb.1	-	42	5567	c.5538C>T	c.(5536-5538)ttC>ttT	p.F1846F	NEB_uc002txu.3_Silent_p.F1846F|NEB_uc021vrc.1_Silent_p.F1846F|NEB_uc010fnx.3_Silent_p.F1846F|NEB_uc021vrd.1_Silent_p.F1846F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1846					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACTTGCATGAAGTGCACCA	0.507000														45			15		0	0	0.003163	0	0
PLK2	10769	broad.mit.edu	37	5	57751513	57751513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:57751513G>A	uc003jrn.3	-	10	1658	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	PLK2_uc021xyx.1_Missense_Mutation_p.P479L	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	493					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTGCTCTTTGGGAATGCAATC	0.493000														20			17		0	0	0.007413	0	0
WRAP53	55135	broad.mit.edu	37	17	7604071	7604071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7604071C>T	uc010vuh.2	+	4	810	c.655C>T	c.(655-657)Cga>Tga	p.R219*	WRAP53_uc010vui.2_Nonsense_Mutation_p.R219*|WRAP53_uc002gip.3_Nonsense_Mutation_p.R219*|WRAP53_uc002gir.3_Nonsense_Mutation_p.R219*|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Nonsense_Mutation_p.R186*|WRAP53_uc010vuj.2_5'UTR	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	219					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCTGTCCTTCGAATGGTGGA	0.532000														101			30		0	0	0.002836	0	0
TCF21	6943	broad.mit.edu	37	6	134210675	134210675	+	Missense_Mutation	SNP	G	A	A	rs144842546		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:134210675G>A	uc003qei.4	+	0	417	c.140G>A	c.(139-141)gGg>gAg	p.G47E	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G47E	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	47					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G47R(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGCGAGAATGGGTCTCCCCAG	0.602000														8			11		0	0	0.000978	0	0
GRM7	2917	broad.mit.edu	37	3	7620192	7620192	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:7620192G>A	uc003bqm.2	+	7	1873	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.K533K|GRM7_uc003bql.2_Silent_p.K533K|GRM7_uc003bqn.1_Silent_p.K116K|GRM7_uc010hch.1_Silent_p.K44K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	533					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACAGAGAAAGAAGACACAGA	0.483000														47			23		0	0	0.002780	0	0
NLRP5	126206	broad.mit.edu	37	19	56539352	56539352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56539352C>T	uc002qmj.3	+	6	1753	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	NLRP5_uc002qmi.3_Missense_Mutation_p.L566F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	585	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)		CTTCTTCCACCTCAGTCTCCA	0.537000														21			10		0	0	0.001368	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385893	65385893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65385893C>T	uc001oey.2	+	5	1060	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	354						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCGGGGTCCCCTCAGATGA	0.692000														9			3		0	0	0.004672	0	0
FLAD1	80308	broad.mit.edu	37	1	154965400	154965400	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154965400G>T	uc001fgf.2	+	6	2052	c.1651G>T	c.(1651-1653)Gag>Tag	p.E551*	FLAD1_uc001fge.2_Nonsense_Mutation_p.E454*|FLAD1_uc001fgg.2_3'UTR|FLAD1_uc001fgh.1_3'UTR|LENEP_uc001fgi.3_5'Flank|LENEP_uc021pak.1_5'Flank	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	551	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			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)			GGGGAGTCGGGAGAATACCGT	0.597000														16			6		0.00198382	0.00310739	0.001984	1	0
FCGR1A	2209	broad.mit.edu	37	1	149755750	149755750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:149755750G>A	uc001esp.4	+	2	294	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	82	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGACAGTGGTGAATACAGGTG	0.547000														56			20		0	0	0.001216	0	0
ZNF365	22891	broad.mit.edu	37	10	64382881	64382881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:64382881C>T	uc001jmc.2	+	4	1315	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	ZNF365_uc001jmd.1_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	151								p.H334N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCATATAAACCACCATCTTTC	0.358000														61			61		0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29600443	29600443	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:29600443C>T	uc001usl.4	+	0	1696	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	536						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGCACCCCTCCACCCAGAGA	0.493000														31			18		0	0	0.004990	0	0
DDX4	54514	broad.mit.edu	37	5	55034816	55034816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:55034816G>A	uc003jqg.4	+	1	124	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	DDX4_uc010ivz.3_Missense_Mutation_p.E9K|DDX4_uc003jqh.4_Missense_Mutation_p.E9K	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	9					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGGAAGCAGAAATCAACCC	0.303000														30			79		0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317575	103317575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103317575G>A	uc002tca.3	+	7	1775	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	545						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGATTCGGGAAAACCAACC	0.318000														32			19		0	0	0.006122	0	0
TRPC5	7224	broad.mit.edu	37	X	111097282	111097282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:111097282C>T	uc004epl.1	-	3	1872	c.953G>A	c.(952-954)gGc>gAc	p.G318D	TRPC5_uc004epm.1_Missense_Mutation_p.G318D	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	318					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCAGGGAAGCCATCATACCA	0.498000														4			16		0	0	0.004007	0	0
SYT10	341359	broad.mit.edu	37	12	33592443	33592443	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33592443C>T	uc001rll.1	-	0	312	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	5						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			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)					CTCCGTCCTCCTTGTGGAAAC	0.542000														131			47		0	0	0.003610	0	0
TRPM2	7226	broad.mit.edu	37	21	45798897	45798897	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45798897C>T	uc010gpt.1	+	7	1132	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	TRPM2_uc002zet.1_Silent_p.T344T|TRPM2_uc002zeu.1_Silent_p.T344T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.T344T|TRPM2_uc002zex.1_Silent_p.T130T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	344						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.A343T(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACAACGCCACCACCAACGGCA	0.632000														39			25		0	0	0.005443	0	0
LGR5	8549	broad.mit.edu	37	12	71960659	71960659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:71960659C>T	uc001swl.3	+	10	1085	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	LGR5_uc001swm.3_Missense_Mutation_p.T322I|LGR5_uc021rar.1_Missense_Mutation_p.T274I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	346						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTCCTCAAACCGTCTGCAAT	0.408000														760			111		0	0	0.003610	0	0
RUFY4	285180	broad.mit.edu	37	2	218940305	218940305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:218940305G>A	uc010fvl.2	+	8	1608	c.1090G>A	c.(1090-1092)Ggg>Agg	p.G364R	RUFY4_uc002vgw.3_Missense_Mutation_p.G191R	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	364							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGCAGGCAGGGGTCGGGGGG	0.597000														10			7		0	0	0.000978	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930472	68930472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:68930472C>T	uc003hdt.1	-	7	995	c.946G>A	c.(946-948)Gac>Aac	p.D316N	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	316	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATAGATGAGTCTGGGAGGCAA	0.388000														22			14		0	0	0.004007	0	0
HGD	3081	broad.mit.edu	37	3	120360535	120360535	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:120360535G>A	uc003edw.3	-	10	1240	c.780C>T	c.(778-780)gtC>gtT	p.V260V	HGD_uc003edv.3_Silent_p.V119V	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	260					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGAACGGGGAGACATCCTAAA	0.413000														75			19		0	0	0.001523	0	0
TANC2	26115	broad.mit.edu	37	17	61497945	61497945	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61497945C>T	uc002jal.4	+	24	4625	c.4602C>T	c.(4600-4602)tcC>tcT	p.S1534S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.S645S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1534							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCCCTTCCCCTCTCCGGA	0.597000														19			8		0	0	0.003080	0	0
TIMD4	91937	broad.mit.edu	37	5	156376728	156376728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156376728G>A	uc003lwh.2	-	3	751	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	TIMD4_uc010jii.2_Missense_Mutation_p.L232F	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	232						integral to membrane		p.V231V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACTGGGGAGGACAGTTTCT	0.453000														205			31		0	0	0.002836	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390708	51390708	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:51390708G>A	uc001rxk.2	-	8	860	c.810C>T	c.(808-810)ttC>ttT	p.F270F	SLC11A2_uc001rxd.4_Silent_p.F90F|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.F241F|SLC11A2_uc001rxc.4_Silent_p.F241F|SLC11A2_uc001rxg.2_5'Flank|SLC11A2_uc010smx.2_Silent_p.F237F|SLC11A2_uc001rxh.2_Silent_p.F241F|SLC11A2_uc010smy.2_Silent_p.F204F|SLC11A2_uc001rxj.2_Silent_p.F241F|SLC11A2_uc001rxi.3_Silent_p.F241F	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	241					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGGATGGTACGAACATGCCCT	0.493000														2			11		0	0	0.001368	0	0
OSMR	9180	broad.mit.edu	37	5	38904051	38904051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:38904051G>A	uc003jln.2	+	7	1461	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	353	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCATGACCTGGAAGGTGCACT	0.313000														46			5		0	0	0.000602	0	0
F2	2147	broad.mit.edu	37	11	46747445	46747446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:46747445_46747446CC>TT	uc001ndf.4	+	6	639_640	c.596_597CC>TT	c.(595-597)tcc>tTT	p.S199F		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	199		Cleavage; by thrombin.			STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.R198C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACTCCACGCTCCGAAGGCTCCA	0.614000														7			47		0	0	0.004672	0	0
DPYD	1806	broad.mit.edu	37	1	98348837	98348837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:98348837G>A	uc001drv.3	-	1	270	c.133C>T	c.(133-135)Cct>Tct	p.P45S	DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.P45S	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	45					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTTATCAGGATTTCTTTTC	0.373000														11			8		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745589	140745589	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140745589C>T	uc003lju.2	+	0	1692	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.Y564Y	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	566	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)			AGATCCTGTACCCCGCCCTCC	0.617000														142			39		0	0	0.002222	0	0
GAA	2548	broad.mit.edu	37	17	78084763	78084763	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78084763C>T	uc002jxp.3	+	10	1942	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	GAA_uc002jxo.3_Silent_p.F525F|GAA_uc002jxq.3_Silent_p.F525F	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	525					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CTTCCAACTTCATCAGGGGCT	0.602000														39			22		0	0	0.003330	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361999	48361999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48361999C>T	uc001rqp.3	+	7	855	c.740C>T	c.(739-741)tCc>tTc	p.S247F	TMEM106C_uc001rqo.3_Missense_Mutation_p.S228F|TMEM106C_uc001rqr.3_Missense_Mutation_p.S247F|TMEM106C_uc001rqq.3_Missense_Mutation_p.S228F	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	247						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GGAGGAAATTCCACAGCTATT	0.473000														59			13		0	0	0.001855	0	0
TMEM156	80008	broad.mit.edu	37	4	38995437	38995437	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:38995437C>T	uc003gto.3	-	2	648	c.540G>A	c.(538-540)tcG>tcA	p.S180S	TMEM156_uc010ifj.3_Silent_p.S180S	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	180						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGTAGTTTATCGATTTCTCCT	0.368000														45			29		0	0	0.007291	0	0
SMR3A	26952	broad.mit.edu	37	4	71232589	71232589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71232589C>T	uc003hfg.1	+	2	364	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	95	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACACTCTCTTCCTCCTCCTTA	0.532000														39			23		0	0	0.006320	0	0
PSG5	5673	broad.mit.edu	37	19	43680064	43680064	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43680064C>A	uc002ovu.3	-	2	798	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.D223Y	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	223	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATGCCACCATCTCGGTCCCGT	0.493000														71			74		2.01383e-38	3.21047e-38	0.003610	1	0
CRNKL1	51340	broad.mit.edu	37	20	20033165	20033165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20033165C>T	uc002wrs.3	-	1	337	c.305G>A	c.(304-306)gGa>gAa	p.G102E	C20orf26_uc010gcw.2_5'UTR|C20orf26_uc010zse.2_5'UTR|C20orf26_uc002wru.3_5'UTR|CRNKL1_uc002wrt.1_Missense_Mutation_p.G90E	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.G102E(2)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGCACCGTTTCCATGGTGACC	0.612000														50			11		0	0	0.001368	0	0
XPO6	23214	broad.mit.edu	37	16	28181102	28181102	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28181102G>A	uc002dpa.1	-	4	1035	c.534C>T	c.(532-534)gaC>gaT	p.D178D	XPO6_uc002dpb.1_Silent_p.D164D|XPO6_uc010vcp.1_Silent_p.D178D	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	178					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						TCTGCACCTGGTCCAGTAGCA	0.577000														34			33		0	0	0.003271	0	0
TEP1	7011	broad.mit.edu	37	14	20848177	20848177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20848177G>A	uc001vxe.3	-	34	5079	c.5039C>T	c.(5038-5040)aCt>aTt	p.T1680I	TEP1_uc010ahk.3_Missense_Mutation_p.T1023I|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.T1572I|TEP1_uc010tlh.1_Missense_Mutation_p.T18I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1680					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCACAGCAGTAGGGGATGA	0.493000														35			25		0	0	0.003954	0	0
REP15	387849	broad.mit.edu	37	12	27849684	27849684	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27849684C>T	uc001rig.1	+	0	257	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	Homo sapiens RAB15 effector protein (REP15), mRNA.	63						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					TAATCCATTTCATCACTTTCT	0.453000														23			21		0	0	0.001523	0	0
ZNF81	347344	broad.mit.edu	37	X	47774358	47774358	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47774358A>G	uc022bvq.1	+	4	562	c.313A>G	c.(313-315)Att>Gtt	p.I105V	ZNF81_uc010nhy.2_Missense_Mutation_p.I105V	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I105M(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CCAGAGGAGAATTTCTGGGAA	0.348000														4			22		0	0	0.003954	0	0
MMP16	4325	broad.mit.edu	37	8	89180047	89180047	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89180047A>C	uc003yeb.4	-	3	842	c.560T>G	c.(559-561)aTt>aGt	p.I187S		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	187					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGATGCAAAAATAATGGTTAT	0.453000														30			8		0	0	0.006214	0	0
PRDM15	63977	broad.mit.edu	37	21	43240524	43240524	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43240524G>A	uc002yzq.1	-	23	3276	c.3165C>T	c.(3163-3165)atC>atT	p.I1055I	PRDM15_uc002yzo.3_Silent_p.I726I|PRDM15_uc002yzp.3_Silent_p.I746I|PRDM15_uc002yzr.1_Silent_p.I746I	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCAGGGGTGGATGTACCTGA	0.607000														17			7		0	0	0.003080	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827093	79827093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79827093G>A	uc021uff.1	-	4	677	c.371C>T	c.(370-372)tCc>tTc	p.S124F	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Missense_Mutation_p.S124F|ARHGDIA_uc021ufg.1_Missense_Mutation_p.S124F|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	124					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTCATGCCGGACACTATCTC	0.657000														28			30		0	0	0.002096	0	0
KCNT2	343450	broad.mit.edu	37	1	196300392	196300392	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196300392C>T	uc001gtd.1	-	18	2058	c.1998_splice	c.e18-1	p.E666_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.E616_splice|KCNT2_uc001gtf.1_Splice_Site_p.E666_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.3_Splice_Site_p.E666_splice|KCNT2_uc001gth.1_Splice_Site_p.E187_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	666						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAGCATACCTGTAAAATAA	0.318000														204			54		0	0	0.003610	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200090020C>T	uc001gvb.3	+	6	1521	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_uc001gvc.3_Missense_Mutation_p.R393C|NR5A2_uc009wzh.3_Missense_Mutation_p.R399C|NR5A2_uc010pph.2_Missense_Mutation_p.R367C	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000														66			11		0	0	0.000673	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379098	114379098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:114379098C>T	uc003pwg.4	-	1	396	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.E122K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	122					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGTGGATTTCTTGAGAGGCT	0.443000														17			39		0	0	0.007835	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962285	56962285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:56962285G>A	uc001cyj.2	-	5	1442	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	292					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATTTCCTTCCGGATAGCAGGG	0.468000														32			28		0	0	0.006320	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985652	142985652	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142985652T>C	uc003evn.3	-	15	2039	c.1830A>G	c.(1828-1830)aaA>aaG	p.K610K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	610					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTGAAGCTTTCTGGTCCA	0.512000														53			46		0	0	0.003610	0	0
CYP26A1	1592	broad.mit.edu	37	10	94837052	94837052	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94837052G>A	uc001kil.2	+	6	1530	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	CYP26A1_uc001kik.1_Silent_p.G426G	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	495					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATTTCCATGGGGAAATCTGAT	0.393000														36			11		0	0	0.000673	0	0
LRRK1	79705	broad.mit.edu	37	15	101593217	101593217	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101593217C>T	uc002bwr.3	+	24	4099	c.3780C>T	c.(3778-3780)gcC>gcT	p.A1260A	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1260	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTACCGGGCCCGGTACCAGG	0.617000														38			18		0	0	0.001523	0	0
CD7	924	broad.mit.edu	37	17	80274552	80274552	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80274552G>A	uc002kel.1	-	1	497	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	CD7_uc010din.3_Silent_p.L130L|CD7_uc010wvk.1_Silent_p.L130L	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	130	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCTGTCACCAGGACCAGGGTG	0.657000														66			47		0	0	0.003610	0	0
ASF1B	55723	broad.mit.edu	37	19	14231301	14231301	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:14231301G>A	uc002mye.3	-	3	751	c.579C>T	c.(577-579)ctC>ctT	p.L193L	PRKACA_uc002myc.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	193					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TCTCAGGGAGGAGGCCAGGGA	0.657000														28			5		0	0	0.001984	0	0
PLS1	5357	broad.mit.edu	37	3	142430402	142430402	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142430402T>C	uc010huv.3	+	14	1848	c.1689T>C	c.(1687-1689)aaT>aaC	p.N563N	PLS1_uc003euz.3_Silent_p.N563N|PLS1_uc003eva.3_Silent_p.N563N	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	563	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGCACCAAATGCAGTTCGTC	0.348000														46			15		0	0	0.004990	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195110	1195110	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:1195110G>A	uc003skd.4	-	3	562	c.261C>T	c.(259-261)caC>caT	p.H87H	ZFAND2A_uc003skc.3_Silent_p.H87H|ZFAND2A_uc021zyp.1_Non-coding_Transcript			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	87						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TCTTCCCAGGGTGAGAGTCAC	0.502000														55			98		0	0	0.003610	0	0
ATF6B	1388	broad.mit.edu	37	6	32095928	32095928	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32095928G>T	uc003nzn.3	-	0	90	c.57C>A	c.(55-57)gaC>gaA	p.D19E	ATF6B_uc003nzo.3_Missense_Mutation_p.D19E|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_Missense_Mutation_p.D19E	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	19	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TAAGCAGGTTGTCGGTGAAGA	0.652000														222			115		1.14069e-62	1.81896e-62	0.003610	1	0
GLB1L2	89944	broad.mit.edu	37	11	134241034	134241034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:134241034C>T	uc001qhp.3	+	12	1536	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	450					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGCATGATCGGGGGCAGGT	0.542000														24			16		0	0	0.006122	0	0
ZNF479	90827	broad.mit.edu	37	7	57193792	57193792	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:57193792G>A	uc010kzo.3	-	3	466	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCAGACAGGTGATCAAGTCTG	0.363000														61			115		0	0	0.003610	0	0
FAM5C	339479	broad.mit.edu	37	1	190068135	190068135	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:190068135G>A	uc001gse.1	-	7	1546	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	FAM5C_uc010pot.1_Silent_p.F336F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	438						extracellular region		p.A437A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAGGGCAGGAACGCGGTGC	0.607000														39			10		0	0	0.006214	0	0
CILP	8483	broad.mit.edu	37	15	65490910	65490910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65490910G>A	uc002aon.2	-	8	1895	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	572					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTTTTCCGACGAAGCATCTTG	0.507000														41			32		0	0	0.002836	0	0
TEX15	56154	broad.mit.edu	37	8	30694351	30694351	+	Missense_Mutation	SNP	C	T	T	rs112222282	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:30694351C>T	uc003xil.3	-	2	8300	c.8300G>A	c.(8299-8301)cGa>cAa	p.R2767Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2767										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGCACAAATCGATTAGGAAG	0.378000														33			14		0	0	0.004007	0	0
HDAC6	10013	broad.mit.edu	37	X	48681693	48681693	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48681693C>T	uc011mmi.1	+	24	2979	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	HDAC6_uc004dks.1_Silent_p.L962L|HDAC6_uc010nig.1_Silent_p.L810L|HDAC6_uc004dkt.1_Silent_p.L962L|HDAC6_uc011mmk.1_Silent_p.L943L|HDAC6_uc004dkv.1_Silent_p.L610L|HDAC6_uc004dkw.1_Silent_p.L610L|HDAC6_uc004dkx.1_Silent_p.L325L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	962					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGAGCCATTCTGGACCAGAC	0.642000														6			7		0	0	0.004482	0	0
AUTS2	26053	broad.mit.edu	37	7	70231110	70231110	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:70231110C>T	uc003tvw.4	+	8	2214	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	AUTS2_uc003tvx.4_Silent_p.I493I|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	493										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCAAGACATCTTGCGACAGG	0.582000														61			29		0	0	0.002096	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956409	128956409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:128956409C>T	uc003kvb.1	+	8	1559	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	520	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTGACGTTTCATGGTCTCGA	0.408000														104			22		0	0	0.003954	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671648	160671648	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160671648C>T	uc003qtf.3	-	2	779	c.605G>A	c.(604-606)tGg>tAg	p.W202*	SLC22A2_uc003qth.2_Nonsense_Mutation_p.W202*	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	202					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			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)		AATTAACATCCACGTATAGGT	0.458000														15			42		0	0	0.002522	0	0
AHNAK	79026	broad.mit.edu	37	11	62288237	62288237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62288237G>A	uc001ntl.3	-	4	13952	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4551					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423000														41			22		0	0	0.001523	0	0
CWC25	54883	broad.mit.edu	37	17	36962603	36962603	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:36962603G>A	uc002hqu.3	-	7	1101	c.948C>T	c.(946-948)agC>agT	p.S316S	CWC25_uc010wdv.2_Silent_p.S253S|CWC25_uc010wdw.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	316										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TAGGTGATGGGCTCCTAGTTT	0.502000														22			24		0	0	0.006320	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689173	27689173	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:27689173C>T	uc002dow.3	+	6	688	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	KIAA0556_uc002dox.1_Silent_p.L130L	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	222										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACCCGGCACTGGTGGGCCA	0.522000														52			16		0	0	0.006122	0	0
ZNF90	7643	broad.mit.edu	37	19	20236104	20236104	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:20236104C>T	uc021url.1	+	2		c.528C>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TTTATGCTATCCGTCAGTCCA	0.522000														22			8		0	0	0.004482	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161005	233161005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233161005C>T	uc001hvl.2	-	25	4727	c.4492G>A	c.(4492-4494)Gaa>Aaa	p.E1498K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E150K|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1498						integral to membrane		p.E1498Q(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCGTGATTTCCCAGGTGAGC	0.612000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		132			29		0	0	0.002096	0	0
ABCA8	10351	broad.mit.edu	37	17	66928584	66928584	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66928584G>A	uc002jhq.3	-	6	982	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCA8_uc002jhp.3_Silent_p.F214F|ABCA8_uc010wqq.2_Silent_p.F214F|ABCA8_uc010wqr.2_Silent_p.F153F|ABCA8_uc002jhr.3_Silent_p.F214F|ABCA8_uc002jhs.3_Silent_p.F214F|ABCA8_uc002jht.3_Silent_p.F214F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTGACCAATGAAGGAATGCA	0.338000														88			18		0	0	0.001523	0	0
SP100	6672	broad.mit.edu	37	2	231380111	231380111	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:231380111T>C	uc002vqt.3	+	24	2537	c.2396T>C	c.(2395-2397)gTt>gCt	p.V799A	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	799					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTGATGATGTTGTGAAGAAA	0.458000														32			12		0	0	0.001368	0	0
RGPD4	285190	broad.mit.edu	37	2	108476199	108476199	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:108476199G>A	uc010ywk.2	+	11	1738	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	552					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGCAAAATTGAGACTTTTAG	0.358000														91			31		0	0	0.001512	0	0
DSG1	1828	broad.mit.edu	37	18	28934722	28934722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28934722G>A	uc002kwp.3	+	14	2775	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	DSG1_uc010xbp.2_Missense_Mutation_p.D214N	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	855					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H854N(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCACGTTCACGATAACCGACC	0.517000														64			66		0	0	0.003610	0	0
SAGE1	55511	broad.mit.edu	37	X	134990381	134990381	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:134990381G>A	uc004ezh.3	+	10	1460	c.1293G>A	c.(1291-1293)agG>agA	p.R431R	SAGE1_uc010nry.1_Silent_p.R400R|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	431										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGAGTACCAGGGATCAGTGTA	0.398000														6			38		0	0	0.003214	0	0
UNC5B	219699	broad.mit.edu	37	10	73051390	73051390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73051390G>A	uc001jro.3	+	9	1947	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	UNC5B_uc001jrp.3_Missense_Mutation_p.G488E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	499					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGGCAGATGGGGCTGACCTG	0.647000														38			19		0	0	0.001523	0	0
OR2B6	26212	broad.mit.edu	37	6	27925685	27925685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27925685C>T	uc011dkx.2	+	0	667	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R223L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTATTGTCCGAGCAGTATT	0.418000														143			35		0	0	0.003755	0	0
RGS6	9628	broad.mit.edu	37	14	72985102	72985102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:72985102G>A	uc001xna.4	+	14	1658	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RGS6_uc021rvv.1_Missense_Mutation_p.D344N|RGS6_uc010ttn.2_Missense_Mutation_p.D379N|RGS6_uc021rvw.1_Missense_Mutation_p.D379N|RGS6_uc021rvx.1_Missense_Mutation_p.D379N|RGS6_uc021rvy.1_Missense_Mutation_p.D342N|RGS6_uc021rvz.1_Missense_Mutation_p.D342N|RGS6_uc001xmy.4_Missense_Mutation_p.D379N|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D379N|RGS6_uc021rwa.1_Missense_Mutation_p.D342N|RGS6_uc021rwb.1_Missense_Mutation_p.D342N|RGS6_uc010ttp.1_Missense_Mutation_p.D310N|RGS6_uc021rwc.1_Missense_Mutation_p.D240N	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	379	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACCCCTACAGGATGTGGCCAA	0.517000														12			27		0	0	0.005443	0	0
UTP14A	10813	broad.mit.edu	37	X	129063461	129063461	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:129063461C>T	uc004euz.3	+	14	2283	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	UTP14A_uc011mup.2_Silent_p.P679P|UTP14A_uc011muq.2_Silent_p.P677P	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	731					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCATTAACCCCATAAAAGCAG	0.512000														36			12		0	0	0.001855	0	0
HPSE	10855	broad.mit.edu	37	4	84243433	84243433	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:84243433G>A	uc003hoj.4	-	1	411	c.312C>T	c.(310-312)ttC>ttT	p.F104F	HPSE_uc003hoi.3_Silent_p.F104F|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Silent_p.F104F|HPSE_uc011cct.2_Silent_p.F104F|HPSE_uc021xpr.1_Silent_p.F104F	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	104					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCTTGGGATCGAAAATTAGGA	0.418000														23			6		0	0	0.001168	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180520	18180520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18180520G>A	uc002nhx.1	-	10	1196	c.1145C>T	c.(1144-1146)cCa>cTa	p.P382L	IL12RB1_uc002nhw.1_Missense_Mutation_p.P342L|IL12RB1_uc010xqb.1_Missense_Mutation_p.P342L	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	342	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGAGCCACTGGTTCTGGAAG	0.587000														64			29		0	0	0.002096	0	0
EPHB6	2051	broad.mit.edu	37	7	142562473	142562473	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142562473C>T	uc011kst.2	+	6	1702	c.915C>T	c.(913-915)taC>taT	p.Y305Y	EPHB6_uc011ksu.2_Silent_p.Y305Y|EPHB6_uc003wbs.3_Silent_p.Y13Y|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.Y13Y|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	305	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R304Q(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGCCTGGATACCAACCAGCAC	0.672000														9			89		0	0	0.003610	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139298	93139298	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:93139298G>A	uc001tcj.2	+	4	476	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	82	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CCTACTGCCTGAACTATTCAG	0.403000														16			56		0	0	0.003610	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561572	127561573	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127561572_127561573GG>AA	uc004bov.3	+	3	584_585	c.471_472GG>AA	c.(469-474)aaggcc>aaAAcc	p.A158T	OLFML2A_uc010mwr.1_Missense_Mutation_p.A122T|OLFML2A_uc004bow.3_5'Flank	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	158										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGAGCATCAAGGCCAACCTGAG	0.584000														21			20		0	0	0.004672	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911178	89911178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89911178C>T	uc001pdf.4	+	15	1860	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	NAALAD2_uc009yvx.3_Missense_Mutation_p.P551L|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	584					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAATCATTCCTTTTAATATT	0.338000														24			27		0	0	0.005443	0	0
ASTN1	460	broad.mit.edu	37	1	176927515	176927515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176927515C>T	uc001glc.3	-	9	1914	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	ASTN1_uc001glb.1_Missense_Mutation_p.D568N|ASTN1_uc001gld.1_Missense_Mutation_p.D568N|ASTN1_uc009wwx.1_Missense_Mutation_p.D568N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	576					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAGTCATGTCCGTCTTGCAC	0.537000														29			20		0	0	0.002299	0	0
SLC5A11	115584	broad.mit.edu	37	16	24881266	24881266	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:24881266C>T	uc002dmu.3	+	3	483	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SLC5A11_uc002dms.3_Silent_p.F20F|SLC5A11_uc010vcd.2_Silent_p.F84F|SLC5A11_uc002dmt.3_Silent_p.F20F|SLC5A11_uc010vce.2_Intron|SLC5A11_uc010bxt.3_Silent_p.F20F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	84					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GTGGACATTTCATTGGCCTGG	0.488000														39			22		0	0	0.004656	0	0
TOP3A	7156	broad.mit.edu	37	17	18196150	18196150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18196150G>A	uc002gsx.1	-	10	1319	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Nonsense_Mutation_p.R262*	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	364					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTTCTGTTCGGGGATAGCTG	0.468000														42			18		0	0	0.007413	0	0
MKI67	4288	broad.mit.edu	37	10	129902173	129902173	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129902173T>C	uc001lke.3	-	12	8126	c.7931A>G	c.(7930-7932)aAa>aGa	p.K2644R	MKI67_uc001lkf.3_Missense_Mutation_p.K2284R|MKI67_uc009yav.1_Missense_Mutation_p.K2219R|MKI67_uc009yaw.1_Missense_Mutation_p.K1794R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2644	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCAATACTTTGATGCCCTC	0.502000														49			29		0	0	0.007291	0	0
MICAL2	9645	broad.mit.edu	37	11	12265648	12265648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:12265648C>T	uc001mjz.3	+	20	3061	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.3_Missense_Mutation_p.P925S|MICAL2_uc010rci.2_Missense_Mutation_p.P925S|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Intron|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	925						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTCTGCTTCTCCTGCCAGAAA	0.498000														34			113		0	0	0.003610	0	0
R3HDM4	91300	broad.mit.edu	37	19	899633	899633	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:899633G>A	uc002lqg.2	-	5	683	c.615C>T	c.(613-615)ccC>ccT	p.P205P		NM_138774	NP_620129	Q96D70	CS022_HUMAN	Homo sapiens R3H domain containing 4 (R3HDM4), mRNA.	205	R3H.					nucleus	nucleic acid binding										ACACGGCCTGGGGGGACACGG	0.692000														13			6		0	0	0.001168	0	0
C10orf82	143379	broad.mit.edu	37	10	118424405	118424405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:118424405C>T	uc001lcr.3	-	3	383	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	Homo sapiens chromosome 10 open reading frame 82 (C10orf82), mRNA.	110										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GGCAGGTAGCCTGCCCAGCCA	0.488000														56			44		0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	64067531	64067531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:64067531G>A	uc002amp.3	-	1	440	c.292C>T	c.(292-294)Cca>Tca	p.P98S	HERC1_uc010uil.1_Missense_Mutation_p.P98S|HERC1_uc010bgt.1_Missense_Mutation_p.P98S|HERC1_uc002amq.1_Missense_Mutation_p.P98S	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	98					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCGGCAAATGGGGAATCTGAA	0.458000														29			25		0	0	0.002780	0	0
WNK2	65268	broad.mit.edu	37	9	96002178	96002179	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96002178_96002179GG>AA	uc004ati.1	+	5	1462_1463	c.1462_1463GG>AA	c.(1462-1464)gga>AAa	p.G488K	WNK2_uc011lud.1_Missense_Mutation_p.G488K|WNK2_uc004atj.3_Missense_Mutation_p.G488K|WNK2_uc004atk.3_Missense_Mutation_p.G125K|WNK2_uc010mrc.1_Missense_Mutation_p.G488K|WNK2_uc010mrd.1_Missense_Mutation_p.G125K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	488					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.D487Y(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAAACTGAAGGGAAAGCCCAAG	0.599000														4			9		0	0	0.004672	0	0
LARGE	9215	broad.mit.edu	37	22	33700406	33700406	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:33700406G>A	uc003and.4	-	12	2118	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	LARGE_uc011amd.2_Silent_p.F312F|LARGE_uc003ane.4_Silent_p.F513F|LARGE_uc010gwp.3_Silent_p.F461F|LARGE_uc011ame.2_Silent_p.F445F|LARGE_uc011amf.2_Silent_p.F513F	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	513					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CGTAGCGGAGGAACTGCTGGG	0.627000														37			9		0	0	0.004482	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601587	58601588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58601587_58601588GG>AA	uc010yht.1	-	1	245_246	c.215_216CC>TT	c.(214-216)gcc>gTT	p.A72V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A16V|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A16V|ZSCAN18_uc002qri.2_Missense_Mutation_p.A16V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.A16V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.A16V	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	16	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GATCCGGCGGGGCTGGGGAGCT	0.629000														60			14		0	0	0.004672	0	0
RPL18A	6142	broad.mit.edu	37	19	17972995	17972996	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17972995_17972996CC>TT	uc002nhp.2	+	2	326_327	c.291_292CC>TT	c.(289-294)taccgg>taTTgg	p.R98W	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	98					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ACCGGGAATACCGGGACCTGAC	0.614000														75			25		0	0	0.004672	0	0
SPNS1	83985	broad.mit.edu	37	16	28993231	28993231	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28993231C>T	uc010vdi.1	+	7	959	c.819C>T	c.(817-819)ttC>ttT	p.F273F	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Silent_p.F200F|SPNS1_uc002dsa.2_Silent_p.F273F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	273					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTAGTTTCGTCCTGTCTT	0.597000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			35		0	0	0.007835	0	0
MYO1E	4643	broad.mit.edu	37	15	59470628	59470628	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59470628C>T	uc002aga.3	-	18	2385	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	671	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TACTCCTCCCCAGCTGGAACT	0.622000														28			7		0	0	0.001984	0	0
NGF	4803	broad.mit.edu	37	1	115828696	115828696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:115828696C>T	uc021osd.1	-	0	721	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	NGF_uc001efu.1_Missense_Mutation_p.A241T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	241					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCAGGTCAGGCTCTTCTCACA	0.552000														34			15		0	0	0.004007	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905617	139905617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139905617C>T	uc003lfs.2	+	25	4683	c.4529C>T	c.(4528-4530)aCc>aTc	p.T1510I	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.T1510I|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.T990I|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.T249I|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.T148I|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1510						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAGTGCAACCACCACCACT	0.413000														30			65		0	0	0.003610	0	0
C10orf81	79949	broad.mit.edu	37	10	115537180	115537180	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:115537180G>A	uc001lat.2	+	11	1741	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	C10orf81_uc009xyc.2_Intron|C10orf81_uc001lar.2_Intron|C10orf81_uc001las.2_Intron|C10orf81_uc001lau.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		ACTCTTTCAGGATTCTTTCAT	0.428000														6			3		0	0	0.000248	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812288	140812288	+	Silent	SNP	C	T	T	rs13360857		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140812288C>T	uc003lkt.2	+	0	2131	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.L654L	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	656	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)			AGCCCCCTCTCTCCGCCACTG	0.682000														101			22		0	0	0.001882	0	0
CATSPERB	79820	broad.mit.edu	37	14	92185775	92185775	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:92185775G>A	uc001xzs.1	-	4	497	c.357C>T	c.(355-357)atC>atT	p.I119I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	119					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGCTTTGTGTGATGTTTTCTC	0.313000														22			14		0	0	0.001216	0	0
APOB	338	broad.mit.edu	37	2	21227961	21227961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21227961C>T	uc002red.3	-	25	11907	c.11779G>A	c.(11779-11781)Gaa>Aaa	p.E3927K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3927					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)	CCATTTAGTTCATATTCTAGG	0.358000														245			92		0	0	0.003610	0	0
ASB18	401036	broad.mit.edu	37	2	237103554	237103554	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237103554C>T	uc010znh.2	-	5	1362	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	454	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GTAGGTAATTCTGCAGGGGCT	0.537000														10			8		0	0	0.006214	0	0
MPP6	51678	broad.mit.edu	37	7	24690151	24690151	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24690151C>A	uc003swx.3	+	5	770	c.471C>A	c.(469-471)atC>atA	p.I157I	MPP6_uc003swy.3_Silent_p.I157I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	157	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCCCGAATCCTCCATGGGG	0.358000														57			28		1.22384e-17	1.94611e-17	0.002836	1	0
RERG	85004	broad.mit.edu	37	12	15262375	15262375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:15262375C>T	uc001rcs.3	-	3	409	c.269G>A	c.(268-270)gGa>gAa	p.G90E	RERG_uc001rct.3_Missense_Mutation_p.G90E|RERG_uc010shu.2_Missense_Mutation_p.G71E	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	90					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.R89L(1)|p.R89R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCAAAACTTCCTCGGTCAGT	0.478000														283			43		0	0	0.003610	0	0
CHAT	1103	broad.mit.edu	37	10	50854610	50854610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50854610G>A	uc001jhz.2	+	7	1324	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	CHAT_uc001jhv.1_Missense_Mutation_p.D273N|CHAT_uc001jhx.1_Missense_Mutation_p.D273N|CHAT_uc001jhy.1_Missense_Mutation_p.D273N|CHAT_uc001jia.2_Missense_Mutation_p.D309N|CHAT_uc010qgs.1_Missense_Mutation_p.D273N	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	391					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTATGCCTGGACGCGCCAGG	0.642000														39			37		0	0	0.002522	0	0
CHAT	1103	broad.mit.edu	37	10	50870760	50870760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50870760G>A	uc001jhz.2	+	13	2062	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	CHAT_uc001jhv.1_Missense_Mutation_p.E519K|CHAT_uc001jhx.1_Missense_Mutation_p.E519K|CHAT_uc001jhy.1_Missense_Mutation_p.E519K|CHAT_uc001jia.2_Missense_Mutation_p.E555K|CHAT_uc010qgs.1_Missense_Mutation_p.E519K	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	637					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.K636K(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CATGTGCAAGGAGCTGCCCGA	0.577000														64			21		0	0	0.002299	0	0
ZNF536	9745	broad.mit.edu	37	19	31039452	31039452	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:31039452C>T	uc002nsu.1	+	3	3064	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	ZNF536_uc010edd.1_Silent_p.L976L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTATGAACCCCTGGACTTGTC	0.577000														63			53		0	0	0.003610	0	0
PCSK6	5046	broad.mit.edu	37	15	101972284	101972284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101972284C>T	uc002bxa.2	-	3	735	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCSK6_uc010bpd.3_Missense_Mutation_p.E12K|PCSK6_uc002bwy.3_Missense_Mutation_p.E141K|PCSK6_uc010bpe.3_Missense_Mutation_p.E138K|PCSK6_uc002bxb.2_Missense_Mutation_p.E141K|PCSK6_uc002bxc.1_Missense_Mutation_p.E141K|PCSK6_uc002bxd.1_Missense_Mutation_p.E141K|PCSK6_uc002bxe.3_Missense_Mutation_p.E141K|PCSK6_uc002bxg.1_Missense_Mutation_p.E141K	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	142					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGTTTCACTTCCTGTTGCTGG	0.458000														13			14		0	0	0.003163	0	0
TPM2	7169	broad.mit.edu	37	9	35689740	35689740	+	Silent	SNP	G	C	C	rs138151922		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35689740G>C	uc003zxq.3	-	0	314	c.75C>G	c.(73-75)gcC>gcG	p.A25A	TPM2_uc003zxs.3_Silent_p.A25A|TPM2_uc010mkz.3_Silent_p.A25A|TPM2_uc011lpa.2_Silent_p.A25A	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	25					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCGGCTTCGGCCTGCTCGG	0.677000														82			61		0	0	0.003610	0	0
RAG1	5896	broad.mit.edu	37	11	36594953	36594953	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:36594953C>T	uc021qgb.1	+	0	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.F33F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	33	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAAGCTGTTCCGGGTGAGAT	0.473000									Familial Hemophagocytic Lymphohistiocytosis					14			35		0	0	0.002836	0	0
GINS2	51659	broad.mit.edu	37	16	85721087	85721087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:85721087G>A	uc002fja.3	-	1	268	c.184C>T	c.(184-186)Cct>Tct	p.P62S	GINS2_uc002fjb.2_Missense_Mutation_p.P62S	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	62					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CACTCTGGAGGGAGCAGGCGA	0.597000														63			17		0	0	0.001523	0	0
KIF19	124602	broad.mit.edu	37	17	72338102	72338102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72338102G>A	uc002jkm.4	+	2	346	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KIF19_uc002jkj.2_Missense_Mutation_p.A70T|KIF19_uc002jkk.2_Missense_Mutation_p.A70T|KIF19_uc002jkl.2_Missense_Mutation_p.A70T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	70	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GTTCGACGTGGCCTTTGACTT	0.662000														82			56		0	0	0.003610	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216017	149216017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149216017C>T	uc003lrc.3	+	7	2090	c.1999C>T	c.(1999-2001)Cac>Tac	p.H667Y	PPARGC1B_uc003lrb.2_Missense_Mutation_p.H667Y|PPARGC1B_uc003lrd.3_Missense_Mutation_p.H628Y|PPARGC1B_uc021yfr.1_Missense_Mutation_p.H603Y|PPARGC1B_uc003lre.1_Missense_Mutation_p.H646Y|PPARGC1B_uc003lrf.3_Missense_Mutation_p.H646Y	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	667					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTCCTGTCCCACCTGCGACA	0.642000														76			15		0	0	0.002450	0	0
OR5B3	441608	broad.mit.edu	37	11	58170330	58170330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170330G>A	uc010rkf.2	-	0	553	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	185					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)				GAGCAAGAGAGAACCATGACT	0.398000														27			24		0	0	0.002780	0	0
TNXB	7148	broad.mit.edu	37	6	32036847	32036848	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32036847_32036848CC>AA	uc003nzl.2	-	15	5855_5856	c.5653_5654GG>TT	c.(5653-5655)ggg>TTg	p.G1885L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1967	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCAACTCCCCGAGGTGGGGC	0.584000														808			14		0	0	0.004672	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334529	5334530	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:5334529_5334530CC>TT	uc003sod.3	+	5	744_745	c.583_584CC>TT	c.(583-585)ccc>TTc	p.P195F	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.P195F|SLC29A4_uc003soe.3_Missense_Mutation_p.P181F	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	195					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGGGATGCTGCCCAAGCGGTAC	0.594000														121			107		0	0	0.004672	0	0
GPS2	2874	broad.mit.edu	37	17	7230825	7230825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7230825G>A	uc002gga.1	-	1	668	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	GPS2_uc002ggb.1_Missense_Mutation_p.P221S|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	207					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGCTCGAGGGGAGGTGTGGGG	0.627000														44			13		0	0	0.001855	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963876	73963876	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73963876C>T	uc004eby.3	-	2	1133	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	172					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCATAATCCCTATTTAGAT	0.453000														2			23		0	0	0.004656	0	0
ANO3	63982	broad.mit.edu	37	11	26463526	26463526	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:26463526C>T	uc001mqt.4	+	1	253	c.108C>T	c.(106-108)tcC>tcT	p.S36S	ANO3_uc010rdr.2_Silent_p.S20S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGGAGATCCCTGCCTTGCC	0.438000														24			86		0	0	0.003610	0	0
HK1	3098	broad.mit.edu	37	10	71119753	71119753	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:71119753C>T	uc001jpl.4	+	2	428	c.327C>T	c.(325-327)tcC>tcT	p.S109S	HK1_uc001jpg.4_Silent_p.S97S|HK1_uc001jph.4_Silent_p.S113S|HK1_uc001jpi.4_Silent_p.S113S|HK1_uc001jpj.4_Silent_p.S144S|HK1_uc001jpk.4_Silent_p.S108S|HK1_uc009xqd.3_Intron	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACATGGAGTCCGAGGTTTATG	0.547000														31			15		0	0	0.004007	0	0
LGALS12	85329	broad.mit.edu	37	11	63283740	63283740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63283740G>A	uc001nxc.2	+	8	1230	c.889G>A	c.(889-891)Gga>Aga	p.G297R	LGALS12_uc001nxa.2_Missense_Mutation_p.G296R|LGALS12_uc001nxb.2_Missense_Mutation_p.G287R|LGALS12_uc001nxd.2_Missense_Mutation_p.G235R|LGALS12_uc001nxe.2_Missense_Mutation_p.G226R|LGALS12_uc009yot.2_Missense_Mutation_p.G256R	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	296	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTTCCAGGAGGGAGGGCTGAA	0.632000														25			15		0	0	0.004990	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652848	115652848	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115652848C>T	uc004bgk.3	-	0	346	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	38						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGAGTAGCCCCGCATCGTAGA	0.687000														34			18		0	0	0.001882	0	0
COL3A1	1281	broad.mit.edu	37	2	189855751	189855751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:189855751G>A	uc002uqj.1	+	10	937	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	274	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGAAATGGAGAAAAGGGTGA	0.284000														60			27		0	0	0.004289	0	0
UNC13B	10497	broad.mit.edu	37	9	35398937	35398937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35398937C>T	uc003zwr.3	+	31	4025	c.3733C>T	c.(3733-3735)Cgg>Tgg	p.R1245W	UNC13B_uc003zwq.3_Missense_Mutation_p.R1245W	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1245					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCAGGTTCGGGGCACAGG	0.577000														24			7		0	0	0.001984	0	0
FAM13C	220965	broad.mit.edu	37	10	61029849	61029849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61029849C>T	uc010qif.1	-	6	745	c.679G>A	c.(679-681)Gat>Aat	p.D227N	FAM13C_uc010qid.2_Missense_Mutation_p.D122N|FAM13C_uc001jkn.3_Missense_Mutation_p.D205N|FAM13C_uc001jko.3_Missense_Mutation_p.D205N|FAM13C_uc010qie.2_Missense_Mutation_p.D122N|FAM13C_uc001jkp.3_Missense_Mutation_p.D122N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	205										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTGCCCATCTTTGTGGACT	0.493000														19			31		0	0	0.004878	0	0
FAT2	2196	broad.mit.edu	37	5	150901330	150901331	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150901330_150901331GG>AT	uc003lue.4	-	17	10836_10837	c.10823_10824CC>AT	c.(10822-10824)acc>aAT	p.T3608N	FAT2_uc003lud.4_Missense_Mutation_p.T301N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3608	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTGGTGAAGGTCCCATCGCT	0.634000														30			10		0	0	0.004672	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599586	136599586	+	Missense_Mutation	SNP	G	A	A	rs146404127		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599586G>A	uc003qgx.1	-	3	686	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	BCLAF1_uc003qgy.1_Missense_Mutation_p.R143C|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R143C|BCLAF1_uc003qgw.1_Missense_Mutation_p.R145C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	145	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGAACGAGAAGAGGAT	0.443000														213			40		0	0	0.006230	0	0
CALCRL	10203	broad.mit.edu	37	2	188247997	188247997	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:188247997C>T	uc010frt.3	-	3	470	c.87G>A	c.(85-87)gaG>gaA	p.E29E	CALCRL_uc002upv.4_Silent_p.E29E	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	29						integral to plasma membrane		p.E29_D30>DN(2)|p.E29D(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GAATTGAGTCCTCAGGACTCT	0.338000														12			11		0	0	0.000673	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300771	41300771	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:41300771G>C	uc001cgh.2	+	12	1827	c.1745_splice	c.e12+1	p.R582_splice	KCNQ4_uc001cgi.2_Splice_Site_p.R528_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	582	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGCAAACTCGGTGGGTGCACC	0.637000														32			15		0	0	0.003163	0	0
BAG6	7917	broad.mit.edu	37	6	31608220	31608221	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31608220_31608221CG>AT	uc003nvg.4	-	21	3303_3304	c.2989_2990CG>AT	c.(2989-2991)cgg>ATg	p.R997M	BAG6_uc003nvf.4_Missense_Mutation_p.R991M|BAG6_uc003nvi.4_Missense_Mutation_p.R991M|BAG6_uc003nvh.4_Missense_Mutation_p.R991M|BAG6_uc011dnw.2_Missense_Mutation_p.R991M|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	997					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGTTCATCCCGGGAGCCCCCC	0.599000														855			13		0	0	0.004672	0	0
LRRC34	151827	broad.mit.edu	37	3	169525424	169525424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:169525424C>T	uc003ffy.3	-	2	569	c.331G>A	c.(331-333)Gat>Aat	p.D111N	LRRC34_uc003ffx.3_Missense_Mutation_p.D111N|LRRC34_uc003fga.4_Missense_Mutation_p.D50N|LRRC34_uc021xhd.1_Missense_Mutation_p.D111N	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	98										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATCCAAAAATCTTCACCTGTA	0.303000														55			12		0	0	0.003163	0	0
AASDH	132949	broad.mit.edu	37	4	57204882	57204882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:57204882C>T	uc003hbn.3	-	14	3136	c.2983G>A	c.(2983-2985)Ggt>Agt	p.G995S	AASDH_uc010ihb.3_Missense_Mutation_p.G510S|AASDH_uc003hbo.3_Missense_Mutation_p.G895S|AASDH_uc011caa.2_Nonsense_Mutation_p.W787*|AASDH_uc011cab.2_Missense_Mutation_p.G510S|AASDH_uc010ihc.3_Nonsense_Mutation_p.W855*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	995					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCATGGGAACCAAAAAATATT	0.378000														18			17		0	0	0.004007	0	0
VWA3B	200403	broad.mit.edu	37	2	98846523	98846523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:98846523G>A	uc002syo.3	+	15	2425	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E240K|VWA3B_uc002sym.3_Missense_Mutation_p.E721K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E378K|VWA3B_uc002syp.1_Missense_Mutation_p.E113K|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_Missense_Mutation_p.E38K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	721								p.E721K(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATCAAAAGGAAATCTGTTC	0.358000														23			32		0	0	0.006230	0	0
SCFD1	23256	broad.mit.edu	37	14	31164036	31164036	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31164036C>T	uc001wqm.1	+	14	1324	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L	SCFD1_uc001wqn.1_Silent_p.L367L|SCFD1_uc010tpg.1_Silent_p.L375L|SCFD1_uc010tph.1_Silent_p.L249L|SCFD1_uc010amf.1_Silent_p.L249L|SCFD1_uc010tpi.1_Silent_p.L342L|SCFD1_uc010amd.1_Silent_p.L266L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	434					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAAACTACTCTGGATAAATC	0.279000														70			13		0	0	0.002450	0	0
MEFV	4210	broad.mit.edu	37	16	3293550	3293550	+	Missense_Mutation	SNP	G	A	A	rs104895107		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3293550G>A	uc002cun.1	-	9	1977	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.P226L|MEFV_uc021tby.1_Missense_Mutation_p.P149L|MEFV_uc021tbz.1_Missense_Mutation_p.P65L|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	646	B30.2/SPRY.		P -> L (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGGAAACTCGGAGAGCCCAG	0.522000														114			41		0	0	0.007835	0	0
VENTX	27287	broad.mit.edu	37	10	135053636	135053636	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135053636C>T	uc010quy.1	+	2	614	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	201					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCCTGGCTCCTTCTGGGGTC	0.677000														14			8		0	0	0.003080	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704361	60704361	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60704361G>A	uc001nqi.3	+	10	3250	c.3057G>A	c.(3055-3057)agG>agA	p.R1019R	TMEM132A_uc001nqj.3_Silent_p.R1018R	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	1018	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						ACATGGAGAGGATCCGGGGCA	0.652000														8			20		0	0	0.001523	0	0
FAT4	79633	broad.mit.edu	37	4	126389779	126389779	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:126389779G>A	uc003ifj.4	+	10	12012	c.12012G>A	c.(12010-12012)acG>acA	p.T4004T	FAT4_uc011cgp.2_Silent_p.T2267T|FAT4_uc003ifi.1_Silent_p.T1482T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4004	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T4004T(1)|p.T3969T(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						AATTTGCCACGATTAAAAGTC	0.398000														23			9		0	0	0.004482	0	0
CROT	54677	broad.mit.edu	37	7	86990850	86990850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:86990850C>T	uc003uiu.3	+	5	714	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F	CROT_uc003uit.3_Missense_Mutation_p.L129F	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	129					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.L129F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGTATAACTCTTTGGCATAA	0.413000														72			6		0	0	0.001168	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823074	16823074	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:16823074G>A	uc003stq.3	+	5	815	c.573G>A	c.(571-573)agG>agA	p.R191R		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	191						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		ACAGATACAGGAACCAGAAAG	0.358000														202			71		0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874793	47874793	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:47874793G>A	uc003tny.2	-	37	6026	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1998					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGTACACAGGAGACCCACC	0.572000														19			30		0	0	0.003755	0	0
ADH4	127	broad.mit.edu	37	4	100063856	100063856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:100063856G>A	uc003hun.3	-	1	170	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.P51S	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	32					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TGAGCCTTGGGGGGAGCTACT	0.507000														10			14		0	0	0.004990	0	0
OR2F2	135948	broad.mit.edu	37	7	143632574	143632574	+	Silent	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143632574A>C	uc011ktv.2	+	0	249	c.249A>C	c.(247-249)gcA>gcC	p.A83A		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGCTGCTGGCACATTTTCTTG	0.522000														253			115		0	0	0.003610	0	0
AGAP3	116988	broad.mit.edu	37	7	150835375	150835376	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150835375_150835376CC>TT	uc003wjg.1	+	11	1644_1645	c.1641_1642CC>TT	c.(1639-1644)tccctg>tcTTtg	p.547_548SL>SL	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	511	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCACCACTTCCCTGCCCCCAGG	0.678000														4			34		0	0	0.004672	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143839	46143839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:46143839C>T	uc001jcp.4	-	4	714	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.D158N|ZFAND4_uc009xmu.3_Missense_Mutation_p.D84N|ZFAND4_uc001jcn.4_Missense_Mutation_p.D84N|ZFAND4_uc001jco.4_Missense_Mutation_p.D158N|ZFAND4_uc001jcq.2_Non-coding_Transcript	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	158							zinc ion binding										TCTCCCCTATCTACTGCAGGA	0.408000														48			36		0	0	0.002522	0	0
NWD1	284434	broad.mit.edu	37	19	16918402	16918402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16918402G>A	uc002neu.4	+	17	4164	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	NWD1_uc002net.4_Missense_Mutation_p.E1113K|NWD1_uc002nev.4_Missense_Mutation_p.E1042K|NWD1_uc021uqg.1_Missense_Mutation_p.E1113K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCAGGCGAGGAACAAGATTC	0.502000														78			25		0	0	0.001512	0	0
C10orf81	79949	broad.mit.edu	37	10	115526242	115526242	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:115526242A>T	uc001lat.2	+	1	645	c.83A>T	c.(82-84)cAg>cTg	p.Q28L	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.Q34L|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	28	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CCACCTTCTCAGCTGTTCTCC	0.343000														32			38		0	0	0.002852	0	0
KALRN	8997	broad.mit.edu	37	3	124351444	124351444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:124351444G>A	uc003ehg.3	+	34	5481	c.5354G>A	c.(5353-5355)gGa>gAa	p.G1785E	KALRN_uc003ehi.3_Missense_Mutation_p.G158E|KALRN_uc003ehk.3_Missense_Mutation_p.G88E|KALRN_uc003ehj.2_Missense_Mutation_p.G88E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1785					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						AAGGCAGATGGAAACATCAAA	0.552000														82			30		0	0	0.001786	0	0
TDRKH	11022	broad.mit.edu	37	1	151751458	151751458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151751458C>T	uc009wnb.1	-	5	768	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.E192K|TDRKH_uc001ezc.4_Missense_Mutation_p.E151K|TDRKH_uc001eza.4_Missense_Mutation_p.E196K|TDRKH_uc001ezd.4_Missense_Mutation_p.E196K|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	196							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTCATCTTCTGAAACTTTC	0.428000														21			62		0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	94120701	94120701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:94120701C>T	uc003poe.3	-	2	591	c.350G>A	c.(349-351)gGa>gAa	p.G117E	EPHA7_uc003pof.3_Missense_Mutation_p.G117E|EPHA7_uc011eac.2_Missense_Mutation_p.G117E|EPHA7_uc003pog.4_Missense_Mutation_p.G117E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	117						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTGCAAGTTCCCAGTACTCC	0.383000														14			39		0	0	0.007835	0	0
TCRA	0	broad.mit.edu	37	14	22315291	22315291	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22315291A>G	uc001wbz.1	+	1	454	c.229A>G	c.(229-231)Aaa>Gaa	p.K77E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Missense_Mutation_p.K58E					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CACCCTGGTTAAAGGCATCAA	0.493000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			76		0	0	0.003610	0	0
POLR1A	25885	broad.mit.edu	37	2	86276287	86276287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:86276287G>A	uc002sqs.3	-	16	2850	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	POLR1A_uc010ytb.2_Missense_Mutation_p.P190L	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	824					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTACCTGGGGCCCGCAGTG	0.557000														94			38		0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76491083	76491083	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76491083G>A	uc010dhp.2	-	38	6125	c.6000C>T	c.(5998-6000)ttC>ttT	p.F2000F	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGTGATGAACTTCCTGG	0.597000														9			14		0	0	0.004007	0	0
PAK4	10298	broad.mit.edu	37	19	39660353	39660353	+	Missense_Mutation	SNP	G	T	T	rs148292608		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39660353G>T	uc002okj.1	+	3	621	c.160G>T	c.(160-162)Gtc>Ttc	p.V54F	PAK4_uc002okl.1_Missense_Mutation_p.V54F|PAK4_uc002okn.1_Missense_Mutation_p.V54F|PAK4_uc002okm.1_Missense_Mutation_p.V54F|PAK4_uc002oko.1_Missense_Mutation_p.V54F|PAK4_uc002okp.1_Missense_Mutation_p.V54F	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	54	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CAAGCCCCTCGTCGACCCCGC	0.711000														15			13		1.5739e-10	2.49329e-10	0.004007	1	0
PBRM1	55193	broad.mit.edu	37	3	52620570	52620570	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52620570G>A	uc003des.2	-	19	3270	c.3258C>T	c.(3256-3258)gtC>gtT	p.V1086V	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.V1086V|PBRM1_uc003der.2_Silent_p.V1054V|PBRM1_uc003det.2_Silent_p.V1101V|PBRM1_uc003deu.2_Silent_p.V1101V|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.V1086V|PBRM1_uc010hmk.1_Silent_p.V1061V|PBRM1_uc003dey.2_Silent_p.V1061V|PBRM1_uc003dez.1_Silent_p.V1085V|PBRM1_uc003dfb.1_Silent_p.V998V|PBRM1_uc003dfa.1_Silent_p.V432V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1086					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATCCCGAGGGACAAACCTGA	0.448000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									63			27		0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13900349C>T	uc003jfd.2	-	14	2267	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome					49			8		0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96443650	96443650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96443650G>A	uc001kjv.4	+	0	400	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CYP2C19_uc001kjw.4_Missense_Mutation_p.G25E	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	25					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGAGCTCTGGAAGAGGGAGG	0.483000														21			35		0	0	0.003755	0	0
CDH11	1009	broad.mit.edu	37	16	64984673	64984673	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:64984673G>A	uc002eoi.3	-	11	2325	c.1891C>T	c.(1891-1893)Ctg>Ttg	p.L631L	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.L631L|CDH11_uc010vin.2_Silent_p.L505L	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	631					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTTACCCAGGAGAATGACG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				6			15		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90024648	90024648	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:90024648T>C	uc003kju.3	+	48	10420	c.10324T>C	c.(10324-10326)Ttt>Ctt	p.F3442L	GPR98_uc003kjt.3_Missense_Mutation_p.F1148L|GPR98_uc003kjv.3_Missense_Mutation_p.F1042L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3442					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAGTGGGTTTATTAACTT	0.448000														8			52		0	0	0.003610	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491674	86491674	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86491674G>A	uc003hpk.3	+	2	430	c.-19_splice	c.e2-1		ARHGAP24_uc003hpi.1_Splice_Site|ARHGAP24_uc003hpj.3_Splice_Site	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.						angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTGCTAACTAGGAAAGTCCAT	0.438000														8			4		0	0	0.000248	0	0
CCDC71	64925	broad.mit.edu	37	3	49200241	49200241	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49200241G>A	uc003cwg.4	-	1	1539	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	CCDC71_uc021wxs.1_Silent_p.V467V	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	467										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGGAATCAGACTGCTGAAT	0.562000														10			4		0	0	0.000602	0	0
PURG	29942	broad.mit.edu	37	8	30854142	30854142	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:30854142C>T	uc003xim.1	-	1	1869	c.936G>A	c.(934-936)caG>caA	p.Q312Q		NM_001015508	NP_001015508	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant B, mRNA.	0						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TATCATGGGGCTGTTCCTTAT	0.328000														60			21		0	0	0.006320	0	0
DLGAP4	22839	broad.mit.edu	37	20	35125333	35125333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:35125333G>A	uc002xff.3	+	7	2309	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	DLGAP4_uc010zvp.2_Missense_Mutation_p.G625E|DLGAP4_uc002xfg.3_5'UTR|DLGAP4_uc002xfh.3_Missense_Mutation_p.G86E|DLGAP4_uc002xfi.3_5'UTR|DLGAP4_uc002xfj.3_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	625					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACACGGGGTGGAGTCGCCCCA	0.652000														43			15		0	0	0.002450	0	0
MCCD1	401250	broad.mit.edu	37	6	31497668	31497668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31497668G>A	uc003ntp.1	+	1	369	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001011700	NP_001011700	P59942	MCCD1_HUMAN	Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), nuclear gene encoding mitochondrial protein, mRNA.	106						mitochondrion				skin(1)	1						GAAGCTGAAGGAACAGATGAG	0.617000														8			3		0	0	0.004672	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669681	122669681	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:122669681C>T	uc001pyi.4	+	9	1749	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	463	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATACCATTATCGATCATGTCT	0.443000														6			16		0	0	0.004007	0	0
DISP1	84976	broad.mit.edu	37	1	223176032	223176032	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:223176032G>T	uc001hnu.2	+	9	1619	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	431					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCATTACTTGGTGGACAAAG	0.498000														674			12		0.000978159	0.00153445	0.000978	1	0
CASR	846	broad.mit.edu	37	3	122003000	122003000	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:122003000C>T	uc003eew.4	+	6	2667	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	CASR_uc003eev.4_Silent_p.F733F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	733					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCACCTTCATGCAGATTG	0.577000														34			15		0	0	0.003163	0	0
IL17B	27190	broad.mit.edu	37	5	148754100	148754100	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148754100G>A	uc003lqo.3	-	2	425	c.375C>T	c.(373-375)ggC>ggT	p.G125G		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	125					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCACACAGCCCAGACACA	0.667000														17			39		0	0	0.002222	0	0
PRTG	283659	broad.mit.edu	37	15	55933389	55933389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:55933389G>A	uc002adg.3	-	11	2107	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	687	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTCTCACATGATATTTTCTT	0.423000														52			14		0	0	0.004990	0	0
OR5H6	79295	broad.mit.edu	37	3	97983782	97983782	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97983782C>T	uc003dsi.1	+	0	654	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F218F(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTTTATTTTCGCAGGTTCTG	0.299000														28			6		0	0	0.001984	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284252	101284252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101284252G>A	uc003duz.3	+	1	775	c.627G>A	c.(625-627)atG>atA	p.M209I	RG9MTD1_uc021xbw.1_Missense_Mutation_p.M209I	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	209					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						TTTTTGACATGGCTTACGAAA	0.393000														32			36		0	0	0.004289	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140732088	140732088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140732088C>T	uc003ljo.2	+	0	2261	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.S754F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	780					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		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)			TGTATTGCCTCTCATTCTGCA	0.517000														67			21		0	0	0.001523	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993841	140993841	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140993841C>T	uc004fbt.3	+	3	975	c.651C>T	c.(649-651)tcC>tcT	p.S217S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	217							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCCCCTGAGAGAA	0.493000										HNSCC(15;0.026)				56			80		0	0	0.003610	0	0
OR2M4	26245	broad.mit.edu	37	1	248402698	248402698	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248402698G>A	uc010pzh.2	+	0	468	c.468G>A	c.(466-468)ggG>ggA	p.G156G		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D155H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTTGATGGGATCATAGTGC	0.458000														105			32		0	0	0.002445	0	0
DMBT1	1755	broad.mit.edu	37	10	124380826	124380826	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124380826G>A	uc001lgk.1	+	40	5257	c.5151G>A	c.(5149-5151)tgG>tgA	p.W1717*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.W1707*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W1089*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W1717*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W1707*|DMBT1_uc021qah.1_Nonsense_Mutation_p.W1089*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W1717*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.W420*|DMBT1_uc009yac.1_Nonsense_Mutation_p.W31*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1717	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTACCTGTGGAGCTGCCCCC	0.622000														55			55		0	0	0.003610	0	0
LOC644936	644936	broad.mit.edu	37	5	79595569	79595569	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79595569G>A	uc010jai.3	-	0	729	c.588C>T	c.(586-588)ttC>ttT	p.F196F						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		ACATCTGCTGGAAGGTGGACA	0.547000														34			52		0	0	0.003610	0	0
ZNF829	374899	broad.mit.edu	37	19	37406120	37406120	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37406120G>A	uc021utr.1	-	1	260	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ZNF568_uc010efg.3_5'Flank|ZNF568_uc010xtn.2_5'Flank|ZNF829_uc002ofa.2_5'UTR|ZNF829_uc002ofb.3_5'UTR|ZNF568_uc002ofc.3_5'Flank|ZNF568_uc021uts.1_5'Flank|ZNF568_uc002ofd.3_5'Flank|ZNF568_uc010efe.3_5'Flank|ZNF568_uc010eff.2_5'Flank	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCTGTCCAGGGTTGGAATC	0.507000														24			10		0	0	0.000673	0	0
CHRM2	1129	broad.mit.edu	37	7	136700301	136700301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700301C>T	uc003vtf.1	+	3	1312	c.689C>T	c.(688-690)cCc>cTc	p.P230L	CHRM2_uc003vtg.1_Missense_Mutation_p.P230L|CHRM2_uc003vti.1_Missense_Mutation_p.P230L|CHRM2_uc003vtm.1_Missense_Mutation_p.P230L|CHRM2_uc003vtj.1_Missense_Mutation_p.P230L|CHRM2_uc003vtk.1_Missense_Mutation_p.P230L|CHRM2_uc003vtl.1_Missense_Mutation_p.P230L|CHRM2_uc003vtn.1_Missense_Mutation_p.P230L|CHRM2_uc003vto.1_Missense_Mutation_p.P230L|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.P230L	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	230					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AACCAAGACCCCGTTTCTCCA	0.488000														37			4		0	0	0.000602	0	0
RETSAT	54884	broad.mit.edu	37	2	85577173	85577173	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:85577173G>A	uc002spd.3	-	3	980	c.789C>T	c.(787-789)ttC>ttT	p.F263F	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Silent_p.F202F	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	263					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CGTAAGTGGGGAAGATGTAGC	0.597000														18			20		0	0	0.001216	0	0
FLJ43860	389690	broad.mit.edu	37	8	142446109	142446109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142446109C>T	uc003ywi.2	-	26	3537	c.3456G>A	c.(3454-3456)atG>atA	p.M1152I	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1153							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCTGTCTGCCATGGCCGCCA	0.677000														14			9		0	0	0.006214	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615323	121615323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121615323C>T	uc003eep.2	+	1	329	c.176C>T	c.(175-177)tCc>tTc	p.S59F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S59F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	59					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)	GAGCGCTTTTCCTATTATGGA	0.448000														47			23		0	0	0.004656	0	0
TAC3	6866	broad.mit.edu	37	12	57406176	57406177	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57406176_57406177GG>AA	uc001smp.3	-	5	531_532	c.352_353CC>TT	c.(352-354)ccg>TTg	p.P118L	TAC3_uc001smt.3_Non-coding_Transcript|TAC3_uc001smu.3_Non-coding_Transcript|TAC3_uc001smv.3_Non-coding_Transcript|TAC3_uc010sqy.2_Non-coding_Transcript|TAC3_uc001smo.3_Missense_Mutation_p.P100L|TAC3_uc001smq.3_Non-coding_Transcript|TAC3_uc001smr.3_Non-coding_Transcript|TAC3_uc001sms.3_Non-coding_Transcript	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	Homo sapiens tachykinin 3 (TAC3), transcript variant 1, mRNA.	118					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCTGCTCTCGGGGGATACTTG	0.530000														26			79		0	0	0.004672	0	0
VAT1L	57687	broad.mit.edu	37	16	77910348	77910348	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:77910348C>T	uc002ffg.1	+	4	901	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	268							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						TTCTCAAACCCCTGGGAACCT	0.473000														77			23		0	0	0.004656	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:214878736C>T	uc002veq.3	+	12	1554	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_uc010fuz.2_Missense_Mutation_p.P339S|SPAG16_uc002ver.3_Missense_Mutation_p.P434S|SPAG16_uc010zjk.2_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000														44			32		0	0	0.002836	0	0
ZNF483	158399	broad.mit.edu	37	9	114304365	114304365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:114304365C>T	uc004bff.2	+	5	1374	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCAGAAGATTCATTTGGGGGA	0.423000														51			28		0	0	0.001512	0	0
HTR1A	3350	broad.mit.edu	37	5	63256644	63256645	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:63256644_63256645GG>AA	uc011cqt.2	-	0	902_903	c.902_903CC>TT	c.(901-903)tcc>tTT	p.S301F		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	301					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.N300T(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTGCTCTTTGGAGTTGCCCAC	0.644000														31			7		0	0	0.004672	0	0
CPM	1368	broad.mit.edu	37	12	69264142	69264142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69264142G>A	uc001sup.3	-	4	530	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	CPM_uc001sur.3_Missense_Mutation_p.P157S|CPM_uc001suq.3_Missense_Mutation_p.P157S	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	157					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAAGCATCGGGGAAATTTCGA	0.398000														190			25		0	0	0.006320	0	0
DIDO1	11083	broad.mit.edu	37	20	61512276	61512276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61512276C>T	uc002ydr.2	-	15	5344	c.5032G>A	c.(5032-5034)Ggt>Agt	p.G1678S	DIDO1_uc002yds.2_Missense_Mutation_p.G1678S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1678					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCCTCTCACCGTCGTGCTGC	0.672000														15			16		0	0	0.003163	0	0
NUMA1	4926	broad.mit.edu	37	11	71724483	71724483	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:71724483G>A	uc001orl.1	-	14	4238	c.4066C>T	c.(4066-4068)Ctg>Ttg	p.L1356L	NUMA1_uc009ysw.1_Silent_p.L919L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L1356L|NUMA1_uc001orn.2_Silent_p.L919L|NUMA1_uc009ysx.1_Silent_p.L1356L|NUMA1_uc001oro.1_Silent_p.L1356L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1356					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCACTCACCAGGGCCTGTGTG	0.632000			T	RARA	APL									25			12		0	0	0.000978	0	0
CDHR2	54825	broad.mit.edu	37	5	176019740	176019740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176019740G>A	uc021yie.1	+	30	4025	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	CDHR2_uc003mem.2_Missense_Mutation_p.D1251N|CDHR2_uc003men.1_Missense_Mutation_p.D1251N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1251					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCCTGGACGACAACTCTGT	0.547000														17			74		0	0	0.003610	0	0
GPR39	2863	broad.mit.edu	37	2	133175238	133175238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:133175238C>T	uc002ttl.3	+	0	1092	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	208						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAATATGTCCATCTGTACC	0.622000														39			12		0	0	0.001855	0	0
PIGR	5284	broad.mit.edu	37	1	207112646	207112646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207112646G>A	uc001hez.3	-	2	390	c.206C>T	c.(205-207)tCc>tTc	p.S69F	PIGR_uc009xbz.3_Missense_Mutation_p.S69F	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	69	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCTCCGAGGAGATGAGGGT	0.587000														40			8		0	0	0.000673	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026791	176026791	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176026791C>T	uc003meo.1	-	1	220	c.45G>A	c.(43-45)aaG>aaA	p.K15K	GPRIN1_uc021yif.1_Silent_p.K15K	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	15						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGAATCCTTTTGAAGCA	0.627000														40			6		0	0	0.001984	0	0
SCN3A	6328	broad.mit.edu	37	2	166019276	166019276	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166019276G>A	uc002ucx.3	-	7	1249	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	SCN3A_uc002ucy.3_Silent_p.L253L|SCN3A_uc002ucz.3_Silent_p.L253L|SCN3A_uc002uda.1_Silent_p.L122L|SCN3A_uc002udb.1_Silent_p.L122L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	253						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AACACAGTCAGGATCATCACA	0.493000														45			25		0	0	0.006320	0	0
SEC24A	10802	broad.mit.edu	37	5	134007571	134007571	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134007571T>C	uc003kzs.3	+	3	1104	c.812T>C	c.(811-813)tTa>tCa	p.L271S	SEC24A_uc021ydr.1_Missense_Mutation_p.L271S|SEC24A_uc011cxu.2_Missense_Mutation_p.Y39H	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	271					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGGTGGCTTATTGGGTGAG	0.328000														52			6		0	0	0.001984	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197228	71197228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71197228G>A	uc001xmm.3	-	11	3184	c.3184C>T	c.(3184-3186)Ccg>Tcg	p.P1062S	MAP3K9_uc010ttk.2_Missense_Mutation_p.P790S|MAP3K9_uc001xmk.3_Missense_Mutation_p.P795S|MAP3K9_uc001xml.3_Missense_Mutation_p.P1076S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	1062					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.P1061R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGCTCAGTCGGGGGCAGCGGC	0.662000														5			9		0	0	0.004482	0	0
DNAAF1	123872	broad.mit.edu	37	16	84211377	84211377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84211377G>A	uc002fhl.4	+	11	2289	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	DNAAF1_uc010vnw.2_Missense_Mutation_p.G467E	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	703			G -> R (in dbSNP:rs4150188).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.V702V(1)|p.G703*(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACGTGTGTCGGAGTTGCCCAG	0.572000														65			30		0	0	0.002836	0	0
WIPI1	55062	broad.mit.edu	37	17	66431803	66431803	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66431803G>A	uc010dey.3	-	5	670	c.579C>T	c.(577-579)acC>acT	p.T193T	WIPI1_uc010wqo.2_Silent_p.T111T	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	193					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGGCATTGAAGGTGATGGCAG	0.517000											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			26		0	0	0.007291	0	0
EFHD2	79180	broad.mit.edu	37	1	15752508	15752508	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15752508C>T	uc001awh.2	+	1	527	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	150	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGAGCTTCCGGGAGGTAA	0.587000														17			7		0	0	0.004482	0	0
ITGAX	3687	broad.mit.edu	37	16	31373212	31373212	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31373212C>T	uc002ebt.3	+	9	1135	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ITGAX_uc002ebu.1_Silent_p.F356F|ITGAX_uc010vfk.1_Silent_p.F6F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	356					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGAGGGCTTCAGCGCTGTGT	0.627000														69			27		0	0	0.006320	0	0
MBOAT7	79143	broad.mit.edu	37	19	54691087	54691087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54691087G>A	uc002qdq.3	-	4	555	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	MBOAT7_uc010erg.3_5'UTR|MBOAT7_uc010yem.2_Missense_Mutation_p.P79S|MBOAT7_uc002qdr.3_Missense_Mutation_p.P97S|MBOAT7_uc002qds.3_Intron|MBOAT7_uc010yen.2_Intron|MBOAT7_uc002qdt.4_Missense_Mutation_p.P97S	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	97					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGGGCGTGGGAGTGGGCAGG	0.657000														11			4		0	0	0.000248	0	0
FGD3	89846	broad.mit.edu	37	9	95782638	95782638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:95782638G>A	uc004asz.2	+	12	1954	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	FGD3_uc004asw.2_Missense_Mutation_p.E476K|FGD3_uc004asx.2_Missense_Mutation_p.E476K|FGD3_uc004ata.3_Missense_Mutation_p.E279K|FGD3_uc011luc.1_Missense_Mutation_p.E79K	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	476					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAGAACAGCGAAACCTTCAA	0.567000														12			8		0	0	0.004482	0	0
HOXB6	3216	broad.mit.edu	37	17	46673838	46673838	+	Silent	SNP	C	T	T	rs141275290	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46673838C>T	uc002ins.1	-	3	937	c.612G>A	c.(610-612)gaG>gaA	p.E204E	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Silent_p.E204E|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron	NM_018952	NP_061825	P17509	HXB6_HUMAN	Homo sapiens homeobox B6 (HOXB6), mRNA.	204					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCAGTTTGCTCTCCTTTTTCC	0.602000														115			89		0	0	0.003610	0	0
ACOT2	10965	broad.mit.edu	37	14	74008211	74008211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74008211C>T	uc001xol.1	+	1	670	c.472C>T	c.(472-474)Cct>Tct	p.P158S	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Missense_Mutation_p.P158S	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	220					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGGGCCCTTTCCTGGCATTGT	0.468000														23			53		0	0	0.003610	0	0
PGM1	5236	broad.mit.edu	37	1	64120033	64120033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:64120033C>T	uc010ooz.2	+	9	1794	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	PGM1_uc001dbh.3_Nonsense_Mutation_p.R499*|PGM1_uc010ooy.2_Nonsense_Mutation_p.R302*	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	499					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGATGGTTCTCGAATCGTCTT	0.517000														21			11		0	0	0.001368	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715751	71715751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71715751G>A	uc002fax.3	-	4	799	c.793C>T	c.(793-795)Cct>Tct	p.P265S	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.P265S|PHLPP2_uc002fay.1_Missense_Mutation_p.P265S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	265						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGATGCTCAGGAACCTCCTCG	0.473000														34			47		0	0	0.003610	0	0
RGS11	8786	broad.mit.edu	37	16	321272	321272	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:321272G>A	uc002cgj.1	-	11	795	c.792C>T	c.(790-792)ctC>ctT	p.L264L	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.L243L|RGS11_uc010bqs.1_Silent_p.L253L|RGS11_uc002cgk.1_Silent_p.L80L	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	264	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCCCGACACGAGGGGATCGT	0.667000														20			7		0	0	0.004482	0	0
COL3A1	1281	broad.mit.edu	37	2	189855743	189855743	+	Missense_Mutation	SNP	G	A	A	rs112185887	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:189855743G>A	uc002uqj.1	+	10	929	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	271	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R271Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCGATGGACGAAATGGAGAA	0.279000														46			42		0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150946879	150946879	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150946879C>T	uc003lue.4	-	0	1627	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	FAT2_uc010jhx.1_Nonsense_Mutation_p.W538*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	538	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.W538C(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGGGATCCCCAGTCTGATG	0.463000														27			81		0	0	0.003610	0	0
ZNF786	136051	broad.mit.edu	37	7	148768946	148768946	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148768946G>T	uc003wfh.2	-	3	1055	c.918C>A	c.(916-918)ctC>ctA	p.L306L	ZNF786_uc011kuk.1_Silent_p.L269L|ZNF786_uc003wfi.2_Silent_p.L220L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTCCACTGGGAGGGAGCGCT	0.701000														29			8		0.000673444	0.00105671	0.000673	1	0
PHF12	57649	broad.mit.edu	37	17	27233293	27233293	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27233293C>A	uc002hdg.1	-	14	3453	c.2923G>T	c.(2923-2925)Gat>Tat	p.D975Y	PHF12_uc010wbb.1_Missense_Mutation_p.D957Y	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	975					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGCTGGCATCGCCTTTGGGC	0.597000														15			20		3.5997e-14	5.71401e-14	0.002299	1	0
RABEPK	10244	broad.mit.edu	37	9	127975692	127975692	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127975692C>T	uc004bpi.3	+	4	424	c.255C>T	c.(253-255)ccC>ccT	p.P85P	RABEPK_uc004bph.2_Silent_p.P85P|RABEPK_uc004bpj.3_Intron|RABEPK_uc004bpk.3_Silent_p.P85P	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	85					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GCCTCTTGCCCCGGTATGAAC	0.478000														71			25		0	0	0.003954	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256024	15256024	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15256024G>A	uc001iob.3	-	7	1570	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	521						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATGAAGGCGCGGGGTACAGAT	0.522000														70			30		0	0	0.002445	0	0
OR1J1	347168	broad.mit.edu	37	9	125240166	125240167	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125240166_125240167GG>AA	uc011lyu.2	-	0	39_40	c.39_40CC>TT	c.(37-42)ctcctc>ctTTtc	p.L14F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGCCCAGGAGGAGGAACTCGG	0.550000														50			40		0	0	0.004672	0	0
UNC13A	23025	broad.mit.edu	37	19	17759754	17759754	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17759754G>A	uc021uqk.1	-	14	1602	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	521					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGAGGCCAAGGCCGAGGTGA	0.607000														4			4		0	0	0.001168	0	0
NPR2	4882	broad.mit.edu	37	9	35800027	35800027	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35800027C>T	uc003zyd.3	+	3	996	c.996C>T	c.(994-996)ctC>ctT	p.L332L	NPR2_uc010mlb.3_Silent_p.L332L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	332					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGATGAACCTCATCGCTGGCT	0.527000														65			37		0	0	0.003755	0	0
PDS5B	23047	broad.mit.edu	37	13	33273881	33273881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:33273881C>T	uc010abf.3	+	15	1801	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	539					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTACCTGATCCTGGTAAGGC	0.274000														13			6		0	0	0.001168	0	0
KRT81	3887	broad.mit.edu	37	12	52681871	52681871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52681871C>T	uc001sab.3	-	4	847	c.797G>A	c.(796-798)aGc>aAc	p.S266N	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	266	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGTCCCGGCTGTTGTCCAG	0.562000														104			21		0	0	0.001216	0	0
COL4A4	1286	broad.mit.edu	37	2	227920826	227920826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:227920826G>A	uc021vxr.1	-	28	2652	c.2551C>T	c.(2551-2553)Cca>Tca	p.P851S	COL4A4_uc021vxs.1_Missense_Mutation_p.P851S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	851	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCACCTGGAGCACCTAAG	0.567000														20			10		0	0	0.001368	0	0
DNTT	1791	broad.mit.edu	37	10	98092340	98092340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98092340G>A	uc001kmf.3	+	8	1516	c.1346G>A	c.(1345-1347)tGg>tAg	p.W449*	DNTT_uc001kmg.3_Nonsense_Mutation_p.W449*	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	449	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTGTTGGGATGGACTGGCTCC	0.577000														87			47		0	0	0.003610	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759066	7759066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:7759066G>A	uc002cys.2	+	14	1992	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	RBFOX1_uc002cyt.2_Missense_Mutation_p.R308Q|RBFOX1_uc010uxz.1_Missense_Mutation_p.R378Q|RBFOX1_uc010uya.1_Missense_Mutation_p.E310K|RBFOX1_uc010uyb.1_Missense_Mutation_p.R335Q|RBFOX1_uc002cyw.2_Missense_Mutation_p.E374K|RBFOX1_uc002cyy.2_Missense_Mutation_p.R356Q|RBFOX1_uc002cyx.2_Missense_Mutation_p.R356Q|RBFOX1_uc010uyc.1_Missense_Mutation_p.R329Q	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	335					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.R356Q(1)|p.A335A(1)|p.E374K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTTACGGACGAGTTTATGCT	0.453000														40			32		0	0	0.003271	0	0
TNXB	7148	broad.mit.edu	37	6	32023874	32023874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32023874C>T	uc003nzl.2	-	23	8423	c.8221G>A	c.(8221-8223)Gag>Aag	p.E2741K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2799	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGC	0.627000														462			156		0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40368657	40368657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40368657G>A	uc002omp.4	-	27	12699	c.12691C>T	c.(12691-12693)Cct>Tct	p.P4231S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4231	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGCCATTAGGGAAGACCTGG	0.642000														128			44		0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179702159	179702159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179702159C>T	uc002une.2	-	22	3905	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	CCDC141_uc002unf.1_Missense_Mutation_p.E742K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	688							protein binding	p.E688K(1)		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)			AGAACAGATTCCTGGGCATCC	0.522000														27			12		0	0	0.002450	0	0
ASIC4	55515	broad.mit.edu	37	2	220379729	220379729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220379729C>T	uc002vlz.3	+	0	838	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ASIC4_uc010fwi.2_Missense_Mutation_p.R222W|ASIC4_uc010fwj.2_Missense_Mutation_p.R222W|ASIC4_uc002vly.2_Missense_Mutation_p.R222W|ASIC4_uc002vma.3_Missense_Mutation_p.R222W|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	222						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTACCTGACCCGGCCTCACCT	0.692000														11			10		0	0	0.000673	0	0
CTSF	8722	broad.mit.edu	37	11	66335051	66335051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66335051G>A	uc001oip.3	-	2	485	c.395C>T	c.(394-396)cCa>cTa	p.P132L		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	132					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGCACCTGGAACCTTGGT	0.557000														76			30		0	0	0.002096	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42265791C>T	uc002xkw.3	+	11	1140	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.P340S	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000														49			50		0	0	0.003610	0	0
LEPR	3953	broad.mit.edu	37	1	66102367	66102367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:66102367G>A	uc001dci.3	+	19	3556	c.3167G>A	c.(3166-3168)gGa>gAa	p.G1056E	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1056					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCTCAGAAGGATTGGATGAA	0.363000														80			42		0	0	0.003610	0	0
CAPN3	825	broad.mit.edu	37	15	42684884	42684884	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42684884C>T	uc001zpn.1	+	6	1299	c.993C>T	c.(991-993)gtC>gtT	p.V331V	CAPN3_uc001zpk.1_Silent_p.V104V|CAPN3_uc001zpl.1_Silent_p.V244V|CAPN3_uc010udf.1_Silent_p.V244V|CAPN3_uc010udg.1_Silent_p.V196V|CAPN3_uc001zpo.1_Silent_p.V331V|CAPN3_uc001zpp.1_Silent_p.V283V	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	331	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.L330L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCGGGCTGGTCAGAGGTCACG	0.572000														19			8		0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26423113	26423113	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26423113G>A	uc003abz.1	+	42	7423	c.7173G>A	c.(7171-7173)gtG>gtA	p.V2391V	MYO18B_uc003aca.1_Silent_p.V2272V|MYO18B_uc010guy.1_Silent_p.V2273V|MYO18B_uc010guz.1_Silent_p.V2271V|MYO18B_uc011aka.1_Silent_p.V1545V|MYO18B_uc011akb.1_Silent_p.V1904V|MYO18B_uc010gva.1_Silent_p.V374V|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2391						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCCTCTGTGGACGATGCGG	0.597000														28			67		0	0	0.003610	0	0
SOLH	6650	broad.mit.edu	37	16	596994	596994	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:596994C>T	uc002chi.3	+	3	519	c.156C>T	c.(154-156)cgC>cgT	p.R52R	SOLH_uc002chh.1_Silent_p.R52R	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	52					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCTGCGCCCGCTGCACCTTCC	0.692000														20			9		0	0	0.006214	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31958389	31958389	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31958389C>A	uc010gek.3	-	11	1474	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	CDK5RAP1_uc002wyy.3_Silent_p.T346T|CDK5RAP1_uc002wyz.3_Silent_p.T436T|CDK5RAP1_uc002wza.3_Silent_p.T436T|CDK5RAP1_uc010gel.3_Silent_p.T346T|CDK5RAP1_uc010gem.3_Silent_p.T359T|CDK5RAP1_uc002wzc.1_Silent_p.T436T|CDK5RAP1_uc002wzb.1_Silent_p.T71T	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	450					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATCTTCCTCCGTCTCACCAC	0.527000														216			7		0.00307968	0.0048155	0.003080	1	0
WNK1	65125	broad.mit.edu	37	12	1005702	1005702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:1005702G>A	uc021qss.1	+	23	7472	c.6829G>A	c.(6829-6831)Gct>Act	p.A2277T	WNK1_uc001qio.4_Missense_Mutation_p.A2017T|WNK1_uc021qst.1_Missense_Mutation_p.A2269T|WNK1_uc001qip.4_Missense_Mutation_p.A1769T|WNK1_uc001qir.4_Missense_Mutation_p.A1190T	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2017					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCGGAGGCCGCTTTTTTAAG	0.498000														36			11		0	0	0.000978	0	0
KRBA1	84626	broad.mit.edu	37	7	149425632	149425632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149425632C>T	uc003wfz.3	+	11	1892	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.S166F	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	498										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGAAGCTCCCCACTGCAG	0.577000														247			29		0	0	0.004289	0	0
FBN1	2200	broad.mit.edu	37	15	48704769	48704769	+	Silent	SNP	G	A	A	rs150065311		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48704769G>A	uc001zwx.2	-	64	8618	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2741					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.N2740S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACCCACCTCGATATTGGAGG	0.493000														53			67		0	0	0.003610	0	0
C11orf40	143501	broad.mit.edu	37	11	4598922	4598922	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4598922G>A	uc010qyg.2	-	0	129	c.129C>T	c.(127-129)acC>acT	p.T43T		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	43										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ttggcttcagggtcagcagct	0.557000														14			43		0	0	0.006999	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560105	10560105	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10560105C>T	uc002raj.3	+	2	596	c.222C>T	c.(220-222)acC>acT	p.T74T	HPCAL1_uc002ral.3_Silent_p.T74T|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.T74T	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	74	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CCTTCGACACCAACGGCGACG	0.602000														57			16		0	0	0.006122	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887849	30887849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30887849C>T	uc003aid.2	-	9	983	c.883G>A	c.(883-885)Gag>Aag	p.E295K	SEC14L4_uc011akz.1_Missense_Mutation_p.E295K|SEC14L4_uc003aie.2_Missense_Mutation_p.E280K|SEC14L4_uc003aif.2_Missense_Mutation_p.E241K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	295	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AACAGGATCTCGTTCTCCACC	0.652000														1			17		0	0	0.007413	0	0
TNR	7143	broad.mit.edu	37	1	175324761	175324761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175324761G>A	uc001gkp.1	-	14	3208	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	TNR_uc009wwu.1_Missense_Mutation_p.P1043S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1043	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTTGCCGGAGGGTCCAGGACT	0.542000														59			20		0	0	0.001523	0	0
TRMT1	55621	broad.mit.edu	37	19	13227068	13227068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13227068G>A	uc002mwj.2	-	0	396	c.146C>T	c.(145-147)cCa>cTa	p.P49L	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.P49L|TRMT1_uc002mwl.3_Missense_Mutation_p.P49L|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	49							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTTCACGTGGACGTTCTTC	0.587000														59			19		0	0	0.002780	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518385	41518385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41518385C>T	uc002opr.1	+	6	1154	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.P183S	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	383					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTACATCATCCCCAAGGTAAG	0.512000														41			14		0	0	0.002450	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222195	91222195	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91222195C>T	uc001kgm.3	-	2	442	c.141G>A	c.(139-141)tgG>tgA	p.W47*		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	17						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCATCCAGCCCCAGCCTCCAT	0.463000														80			16		0	0	0.006122	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:161116303C>T	uc003lyu.2	+	4	828	c.490C>T	c.(490-492)Cct>Tct	p.P164S	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)				77			16		0	0	0.001216	0	0
GLOD4	51031	broad.mit.edu	37	17	663430	663430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:663430G>A	uc002frv.3	-	9	1001	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	GLOD4_uc002frt.3_Missense_Mutation_p.P238S|GLOD4_uc002fru.3_Missense_Mutation_p.P294S|GLOD4_uc010vqc.2_Missense_Mutation_p.P285S	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	309						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAGCTTTGGGTTTATTGTGT	0.443000														48			9		0	0	0.000978	0	0
STEAP4	79689	broad.mit.edu	37	7	87913487	87913487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:87913487G>A	uc022agz.1	-	2	321	c.98C>T	c.(97-99)tCa>tTa	p.S33L	STEAP4_uc003ujs.3_Missense_Mutation_p.S33L|STEAP4_uc010lek.3_Missense_Mutation_p.S33L	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	33					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAATCCCAGTGATCTTCCAAA	0.418000														9			108		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228404	140228404	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140228404G>A	uc003lhu.2	+	0	1048	c.324G>A	c.(322-324)gtG>gtA	p.V108V	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_uc003lht.1_Silent_p.V108V	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	123	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)			ACCTGGAGGTGATCGTAGACA	0.542000														240			38		0	0	0.001951	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312871	42312871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42312871C>T	uc002orn.1	+	2	521	c.445C>T	c.(445-447)Cct>Tct	p.P149S	CEACAM3_uc010eia.1_Missense_Mutation_p.P149S|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	149						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGCCTTCCTGTGGGGGC	0.607000														55			93		0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581260	234581260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234581260C>T	uc002vus.3	+	0	717	c.680C>T	c.(679-681)gCc>gTc	p.A227V	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.A227V	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	230					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCAAAAATGCCCTAGAAATA	0.428000														129			79		0	0	0.003610	0	0
NOTCH3	4854	broad.mit.edu	37	19	15290951	15290951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15290951G>A	uc002nan.3	-	19	3335	c.3259C>T	c.(3259-3261)Ccc>Tcc	p.P1087S	NOTCH3_uc002nao.1_Missense_Mutation_p.P1035S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1087	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCAAGCAGGGGTCCACCTCC	0.652000														27			35		0	0	0.005524	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812825	45812825	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45812825C>T	uc011bai.2	-	5	943	c.819G>A	c.(817-819)caG>caA	p.Q273Q	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Silent_p.Q236Q	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	273					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGGCGTGCTTCTGGCAGTTGT	0.527000														57			19		0	0	0.007413	0	0
PAK7	57144	broad.mit.edu	37	20	9560902	9560902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9560902C>T	uc002wnl.2	-	4	1425	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PAK7_uc002wnk.2_Missense_Mutation_p.E294K|PAK7_uc002wnj.2_Missense_Mutation_p.E294K|PAK7_uc010gby.1_Missense_Mutation_p.E294K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	294	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCATCGGTTCCTGGAGTCCC	0.552000														20			45		0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24681479	24681479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24681479C>T	uc003swx.3	+	3	561	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	MPP6_uc003swy.3_Missense_Mutation_p.H88Y	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	88	L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAAAGAACCTCACTTCCAGGT	0.363000														73			32		0	0	0.003755	0	0
ANKRD28	23243	broad.mit.edu	37	3	15720984	15720984	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15720984C>A	uc003caj.1	-	22	2530	c.2387_splice	c.e22+1	p.V796_splice	ANKRD28_uc003cai.1_Splice_Site_p.V642_splice|ANKRD28_uc011avz.1_Splice_Site_p.V642_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Intron	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	796						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTTACTTACACGGCACAATGC	0.378000														36			18		5.03518e-11	7.98053e-11	0.007413	1	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37677213G>A	uc002ofq.3	-	4	1478	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_uc002ofr.1_Missense_Mutation_p.S223L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000														61			15		0	0	0.004007	0	0
MYT1	4661	broad.mit.edu	37	20	62853301	62853301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62853301C>T	uc002yii.3	+	13	2661	c.2297C>T	c.(2296-2298)tCg>tTg	p.S766L	MYT1_uc002yih.3_Missense_Mutation_p.S468L|MYT1_uc002yij.3_Missense_Mutation_p.S425L	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	766					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S766L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGGAAGTGTCGGAAGAGAAT	0.502000														37			23		0	0	0.002299	0	0
LAIR2	3904	broad.mit.edu	37	19	55014948	55014948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55014948G>A	uc002qgc.3	+	1	189	c.67G>A	c.(67-69)Gag>Aag	p.E23K	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.3_Missense_Mutation_p.E23K|LAIR2_uc010erl.3_Missense_Mutation_p.E23K	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	23						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCACACGCAGGAGGGTAAGTC	0.577000														18			60		0	0	0.003610	0	0
UNG	7374	broad.mit.edu	37	12	109537051	109537051	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:109537051C>T	uc001tnz.2	+	2	483	c.397C>T	c.(397-399)Caa>Taa	p.Q133*	UNG_uc001toa.2_Nonsense_Mutation_p.Q124*	NM_080911	NP_550433	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA.	133					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ACCCCCACACCAAGTCTTCAC	0.343000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM					17			20		0	0	0.001216	0	0
MYO18B	84700	broad.mit.edu	37	22	26423526	26423526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26423526G>A	uc003abz.1	+	42	7836	c.7586G>A	c.(7585-7587)gGa>gAa	p.G2529E	MYO18B_uc003aca.1_Missense_Mutation_p.G2410E|MYO18B_uc010guy.1_Missense_Mutation_p.G2411E|MYO18B_uc010guz.1_Missense_Mutation_p.G2409E|MYO18B_uc011aka.1_Missense_Mutation_p.G1683E|MYO18B_uc011akb.1_Missense_Mutation_p.G2042E|MYO18B_uc010gva.1_Missense_Mutation_p.G512E|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2529						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCGACCAGGAATCCCACGA	0.602000														4			37		0	0	0.003214	0	0
FREM2	341640	broad.mit.edu	37	13	39263123	39263123	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:39263123C>T	uc001uwv.3	+	0	1951	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	548					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTACAGTTTCTGTTCCCCAT	0.592000														7			5		0	0	0.000602	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714513	138714513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:138714513G>A	uc004cgr.4	-	10	1994	c.1994C>T	c.(1993-1995)aCc>aTc	p.T665I	CAMSAP1_uc004cgq.4_Missense_Mutation_p.T555I|CAMSAP1_uc010nbg.3_Missense_Mutation_p.T387I	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	665						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTGTCTCGGTGGGGTCGAT	0.582000														13			18		0	0	0.004990	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994708	45994708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45994708C>T	uc002zfk.1	+	0	1103	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	358	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCAGACCCTCCTCCTCCGTG	0.662000														143			21		0	0	0.002299	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767908	41767908	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:41767908G>A	uc001uxw.1	-	0	795	c.486C>T	c.(484-486)tcC>tcT	p.S162S	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	162							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGGCTAAGAAGGAGGCACAGG	0.582000														30			21		0	0	0.003330	0	0
DGKK	139189	broad.mit.edu	37	X	50130633	50130633	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50130633C>T	uc010njr.2	-	13	2081	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	679					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAAAATCTTCCACAGCTGAAC	0.408000														5			26		0	0	0.007291	0	0
OR2T34	127068	broad.mit.edu	37	1	248737510	248737510	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248737510G>A	uc001iep.1	-	0	549	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F183S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGTCTCACAGAAAAAACTCA	0.512000														89			27		0	0	0.003271	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265577	37265577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37265577C>T	uc002hrg.2	-	2	535	c.323G>A	c.(322-324)tGg>tAg	p.W108*	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	108					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATCTACCCACAGTTCCCG	0.607000														25			8		0	0	0.000673	0	0
CNTN5	53942	broad.mit.edu	37	11	100061878	100061878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:100061878G>A	uc001pga.3	+	13	2105	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	CNTN5_uc009ywv.2_Missense_Mutation_p.G534E|CNTN5_uc001pfz.3_Missense_Mutation_p.G534E|CNTN5_uc021qpb.1_Missense_Mutation_p.G534E|CNTN5_uc021qpc.1_Missense_Mutation_p.G460E|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	534	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G534V(3)|p.G534W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAGACGGGAGTCTACGG	0.368000														28			13		0	0	0.002450	0	0
NEFM	4741	broad.mit.edu	37	8	24775443	24775443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24775443C>T	uc003xed.4	+	2	2108	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Missense_Mutation_p.S316L	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	692	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggcaaagtcaaaagcagaa	0.453000														20			13		0	0	0.001368	0	0
F13B	2165	broad.mit.edu	37	1	197009744	197009744	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:197009744A>G	uc001gtt.1	-	10	1904	c.1860T>C	c.(1858-1860)acT>acC	p.T620T		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	620	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAGCTGGATAAGTATCTCCTC	0.323000														24			50		0	0	0.003610	0	0
TMEM202	338949	broad.mit.edu	37	15	72691003	72691003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72691003C>T	uc002auq.3	+	1	91	c.91C>T	c.(91-93)Cct>Tct	p.P31S	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	31						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GCCTACCGTCCCTGCCAAGAA	0.532000														36			27		0	0	0.001512	0	0
FBN2	2201	broad.mit.edu	37	5	127681179	127681179	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:127681179G>A	uc003kuu.3	-	23	3526	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	FBN2_uc003kuv.2_Silent_p.V996V	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1029	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCCGCCCCGACAGCACAGC	0.592000														86			24		0	0	0.003330	0	0
CD163L1	283316	broad.mit.edu	37	12	7531734	7531734	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7531734G>A	uc010sge.2	-	8	2267	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CD163L1_uc001qsy.3_Silent_p.I737I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	737	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAGACCCTGATTGCAGACC	0.483000														69			8		0	0	0.003080	0	0
ZNF839	55778	broad.mit.edu	37	14	102792644	102792644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102792644C>T	uc010awk.1	+	1	618	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ZNF839_uc001ylo.2_Missense_Mutation_p.S88F|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.S88F|ZNF839_uc001ylr.2_Missense_Mutation_p.S88F	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	88						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAACAGGGCTCCATGTTGACC	0.532000														4			5		0	0	0.001168	0	0
OR10X1	128367	broad.mit.edu	37	1	158549150	158549150	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158549150G>A	uc010pin.2	-	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	180			F -> L (in dbSNP:rs16840360).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGAGTCCCTGAATATCAGTG	0.443000														49			7		0	0	0.004482	0	0
DYSF	8291	broad.mit.edu	37	2	71825763	71825763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71825763C>T	uc010fen.3	+	32	3785	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	DYSF_uc010fei.3_Missense_Mutation_p.P1214L|DYSF_uc010feh.3_Missense_Mutation_p.P1183L|DYSF_uc002sig.4_Missense_Mutation_p.P1183L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1228L|DYSF_uc010fee.3_Missense_Mutation_p.P1197L|DYSF_uc010fef.3_Missense_Mutation_p.P1214L|DYSF_uc002sie.3_Missense_Mutation_p.P1197L|DYSF_uc010feo.3_Missense_Mutation_p.P1229L|DYSF_uc010fej.3_Missense_Mutation_p.P1184L|DYSF_uc010fel.3_Missense_Mutation_p.P1184L|DYSF_uc010fem.3_Missense_Mutation_p.P1198L|DYSF_uc002sif.3_Missense_Mutation_p.P1198L|DYSF_uc010fek.3_Missense_Mutation_p.P1215L|DYSF_uc010yqy.2_Missense_Mutation_p.P78L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1197	C2 4.					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						ACCCTTAACCCCACCTGGGAC	0.597000														37			10		0	0	0.006214	0	0
FAM47A	158724	broad.mit.edu	37	X	34150306	34150306	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34150306G>A	uc004ddg.3	-	0	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	30								p.F30F(2)		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						TGCACTTCGCGAAGCACTTGG	0.617000														7			46		0	0	0.003610	0	0
CACNA1B	774	broad.mit.edu	37	9	140809148	140809148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140809148C>T	uc004cog.3	+	4	810	c.665C>T	c.(664-666)cCa>cTa	p.P222L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P222L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	222					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCATGGTTCCACTCCTGCAG	0.547000														21			6		0	0	0.001984	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487679	117487679	+	Missense_Mutation	SNP	C	T	T	rs137888350	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117487679C>T	uc001egv.1	+	2	934	c.797C>T	c.(796-798)gCc>gTc	p.A266V		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	266	Ig-like C2-type 2.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAAGAAAAGGCCGTGGAAGTT	0.527000														19			6		0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158590148C>T	uc001fst.1	-	43	6428	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000														44			7		0	0	0.004482	0	0
OR1L6	392390	broad.mit.edu	37	9	125512429	125512429	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125512429G>A	uc022bna.1	+	0	303	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCCTGGCCCAGATGTACTTCT	0.488000														71			21		0	0	0.003330	0	0
KRT76	51350	broad.mit.edu	37	12	53170524	53170524	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53170524C>T	uc001sax.3	-	0	606	c.552G>A	c.(550-552)cgG>cgA	p.R184R		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	184	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTGTTCCCGCTCCTGGG	0.562000														129			17		0	0	0.001882	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457899	45457899	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:45457899G>A	uc001rol.3	-	0		c.1296C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAGATAGCATGGATATCATCC	0.433000														66			18		0	0	0.007413	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587465	111587465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:111587465C>T	uc003puv.4	+	3	1122	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	234					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TCTTTGTCTCCTTTTTCTGTT	0.378000														7			31		0	0	0.002445	0	0
CLDN4	1364	broad.mit.edu	37	7	73245539	73245539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73245539C>T	uc003tzi.4	+	0	347	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	3					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ACAATGGCCTCCATGGGGCTA	0.657000														31			63		0	0	0.003610	0	0
NALCN	259232	broad.mit.edu	37	13	101717859	101717859	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:101717859G>A	uc001vox.1	-	39	4690	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1501						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)					TCCACCTCCAGCCTCCCACGC	0.577000														30			18		0	0	0.006122	0	0
GAD1	2571	broad.mit.edu	37	2	171704187	171704187	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171704187G>A	uc002ugi.3	+	11	1425	c.1003_splice	c.e11-1	p.G335_splice		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	335					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTTGTAGGGATATGTTCCC	0.353000														66			31		0	0	0.004878	0	0
MYO10	4651	broad.mit.edu	37	5	16680099	16680099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:16680099G>A	uc003jft.4	-	32	4967	c.4499C>T	c.(4498-4500)gCc>gTc	p.A1500V	MYO10_uc011cnb.2_Missense_Mutation_p.A129V|MYO10_uc011cnc.2_Missense_Mutation_p.A379V|MYO10_uc011cnd.2_Missense_Mutation_p.A857V|MYO10_uc011cne.2_Missense_Mutation_p.A857V|MYO10_uc010itx.3_Missense_Mutation_p.A1122V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1500					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTCGATCGGGGCCTTGGTGTC	0.552000														21			7		0	0	0.004482	0	0
GPR128	84873	broad.mit.edu	37	3	100348442	100348442	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:100348442G>A	uc003duc.3	+	2	384	c.116_splice	c.e2-1	p.G39_splice		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	39					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTTTCTTTAGGAAAATCTACT	0.408000														28			9		0	0	0.004482	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716179	13716179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:13716179C>T	uc001rbt.2	-	12	4172	c.3993G>A	c.(3991-3993)atG>atA	p.M1331I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1331					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCCCATCCATGAATCGGC	0.607000														42			9		0	0	0.004482	0	0
CCDC164	92749	broad.mit.edu	37	2	26676345	26676345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26676345C>T	uc002rhg.2	+	13	1921	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	616										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						ACCCCACCCTCCCCCTGGGTC	0.582000														16			28		0	0	0.005443	0	0
CHIT1	1118	broad.mit.edu	37	1	203186116	203186116	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203186116C>T	uc001gzn.2	-	10	1398	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.R196R|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.R425R	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	434	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGAAGCTGGACCGTTCCCGAG	0.597000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			84		0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27802602	27802602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27802602G>A	uc002rkz.4	+	0	3214	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1055								p.S1054R(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCACAGAGTGATTCCCAGAC	0.463000														84			34		0	0	0.004289	0	0
SLC6A16	28968	broad.mit.edu	37	19	49796617	49796617	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49796617G>A	uc002pmz.3	-	9	1875	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	SLC6A16_uc002pna.3_Silent_p.F547F	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	547						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCCGCACACGAACATGAGCA	0.498000														10			11		0	0	0.000673	0	0
MARC1	64757	broad.mit.edu	37	1	220971379	220971379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220971379C>T	uc001hmt.3	+	3	1024	c.776C>T	c.(775-777)tCt>tTt	p.S259F	MARC1_uc001hms.3_Intron	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	251	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCCTTTGGATCTTTCCTTGGA	0.373000														42			96		0	0	0.003610	0	0
MACROD2	140733	broad.mit.edu	37	20	16030510	16030510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:16030510G>A	uc002wou.3	+	17	1600	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	MACROD2_uc002wot.3_Missense_Mutation_p.G423R|MACROD2_uc002woz.3_Missense_Mutation_p.G211R|MACROD2_uc002wpb.3_Missense_Mutation_p.G188R|MACROD2_uc002wpd.3_Missense_Mutation_p.G96R	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	446										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAAAGAAATGGAACTAAATG	0.512000														27			7		0	0	0.006214	0	0
ZNF502	91392	broad.mit.edu	37	3	44763775	44763775	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44763775A>T	uc011baa.2	+	3	1721	c.1466A>T	c.(1465-1467)aAg>aTg	p.K489M	ZNF502_uc003cns.3_Missense_Mutation_p.K489M|ZNF502_uc011bab.2_Missense_Mutation_p.K489M|ZNF502_uc003cnt.3_Missense_Mutation_p.K489M	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACTGGTGAGAAGCTCTATAAA	0.398000														21			9		0	0	0.006214	0	0
UNC13C	440279	broad.mit.edu	37	15	54305505	54305505	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54305505G>A	uc021smr.1	+	0	405	c.405G>A	c.(403-405)agG>agA	p.R135R	UNC13C_uc021sms.1_Silent_p.R135R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	135					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)		ATGAACTAAGGAGTAGCACAG	0.438000														38			26		0	0	0.004656	0	0
RBM47	54502	broad.mit.edu	37	4	40440485	40440485	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40440485G>A	uc003gvc.2	-	3	1136	c.426C>T	c.(424-426)ctC>ctT	p.L142L	RBM47_uc003gvd.2_Silent_p.L142L|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.L104L|RBM47_uc003gvg.1_Silent_p.L142L	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	142	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACACGCCGAGCAGGCGGC	0.627000														24			14		0	0	0.003163	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306491	61306491	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61306491C>T	uc002ljf.3	-	6	782	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SERPINB3_uc002lje.3_Silent_p.L211L|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	232					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGGTATTTCCAGGACCTTGG	0.398000														51			21		0	0	0.001523	0	0
APOB	338	broad.mit.edu	37	2	21225520	21225520	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21225520C>T	uc002red.3	-	28	12902	c.12774G>A	c.(12772-12774)agG>agA	p.R4258R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4258					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)	GTTTATGTTTCCTTAACTCGA	0.368000														424			138		0	0	0.003610	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054585	43054585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:43054585C>T	uc003xpx.4	+	17	1829	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	622					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AACTACTTCCCCTTTCAGTGG	0.483000														5			6		0	0	0.001168	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849570	102849570	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102849570C>T	uc001ksv.3	-	2	1390	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	Homo sapiens TLX1 neighbor (TLX1NB), mRNA.	31																	CTGCCCCCTCCCCAGGCCCCA	0.657000														8			5		0	0	0.000602	0	0
PRDM16	63976	broad.mit.edu	37	1	3319459	3319459	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:3319459T>A	uc001akf.3	+	5	863	c.781T>A	c.(781-783)Tac>Aac	p.Y261N	PRDM16_uc001ake.3_Missense_Mutation_p.Y261N|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.Y261N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	261					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCTGCGCTCTACGAGGGCCT	0.637000			T	EVI1	"""MDS, AML"""									5			17		0	0	0.007413	0	0
MXRA8	54587	broad.mit.edu	37	1	1289285	1289286	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1289285_1289286CC>TT	uc001aex.4	-	8	1294_1295	c.1263_1264GG>AA	c.(1261-1266)aaggag>aaAAag	p.E422K	MXRA8_uc001aew.3_Missense_Mutation_p.E416K|MXRA8_uc001aey.4_Missense_Mutation_p.E416K|MXRA8_uc001aez.3_Missense_Mutation_p.E315K|MXRA8_uc001afa.3_Missense_Mutation_p.E407K	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	416						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGCCCTCTCCTTCAGGATGT	0.649000														9			11		0	0	0.004672	0	0
HDAC5	10014	broad.mit.edu	37	17	42155754	42155754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42155754G>A	uc002iff.1	-	26	3694	c.3362C>T	c.(3361-3363)cCt>cTt	p.P1121L	HDAC5_uc002ifd.1_Missense_Mutation_p.P1120L|HDAC5_uc002ife.1_Missense_Mutation_p.P1120L|HDAC5_uc010czp.1_Missense_Mutation_p.P1035L	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	1120					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCACAGGGCAGGCTCCTGCTC	0.567000														18			15		0	0	0.004990	0	0
FLJ43860	389690	broad.mit.edu	37	8	142458068	142458068	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142458068G>A	uc003ywi.2	-	20	2839	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	920							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGCTGGGCAGGTTCAGCTCC	0.657000														11			10		0	0	0.001368	0	0
LILRB4	11006	broad.mit.edu	37	19	55177283	55177283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55177283G>A	uc002qgp.3	+	6	1137	c.775G>A	c.(775-777)Gag>Aag	p.E259K	LILRB4_uc002qgq.3_Missense_Mutation_p.E259K|LILRB4_uc010ert.3_Missense_Mutation_p.E300K|LILRB4_uc010eru.3_Missense_Mutation_p.E288K	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.	259						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)		AAGGCACTGGGAGGTACTGAT	0.552000														3			9		0	0	0.004482	0	0
LDLR	3949	broad.mit.edu	37	19	11227540	11227540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:11227540C>T	uc002mqk.4	+	11	1898	c.1711C>T	c.(1711-1713)Ctc>Ttc	p.L571F	LDLR_uc010xlk.2_Missense_Mutation_p.L571F|LDLR_uc010xll.2_Missense_Mutation_p.L530F|LDLR_uc021upc.1_Missense_Mutation_p.L450F|LDLR_uc010xln.2_Missense_Mutation_p.L444F|LDLR_uc010xlo.2_Missense_Mutation_p.L403F|LDLR_uc010xlm.2_Missense_Mutation_p.L424F|LDLR_uc021upd.1_Missense_Mutation_p.L308F	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	571					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTAGATCTCCTCAGTGGCCG	0.577000														188			82		0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521678	125521678	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:125521678C>T	uc010flu.3	+	15	2851	c.2487C>T	c.(2485-2487)ttC>ttT	p.F829F	CNTNAP5_uc002tno.3_Silent_p.F828F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	828	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCGGAGTTTTCCTAGAAAATC	0.363000														71			22		0	0	0.003330	0	0
APOBEC1	339	broad.mit.edu	37	12	7805127	7805127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7805127C>T	uc001qtb.3	-	2	383	c.349G>A	c.(349-351)Gct>Act	p.A117T	APOBEC1_uc001qtc.3_Missense_Mutation_p.A72T	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	117					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAAAGCCGAGCTACGTAGATC	0.478000														48			12		0	0	0.002450	0	0
PRDM9	56979	broad.mit.edu	37	5	23517998	23517998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:23517998C>T	uc003jgo.3	+	4	492	c.310C>T	c.(310-312)Cct>Tct	p.P104S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	104					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		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						AGTCAAACCTCCTTGGATGGC	0.358000										HNSCC(3;0.000094)				40			100		0	0	0.003610	0	0
CILP	8483	broad.mit.edu	37	15	65499260	65499260	+	Missense_Mutation	SNP	C	T	T	rs143925933	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65499260C>T	uc002aon.2	-	3	465	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	95					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTCAGTGGTCCGAGCCTCTAG	0.647000														25			4		0	0	0.000602	0	0
ZNF827	152485	broad.mit.edu	37	4	146686280	146686280	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:146686280C>T	uc003ikn.3	-	12	3138	c.3090G>A	c.(3088-3090)acG>acA	p.T1030T	ZNF827_uc003ikm.3_Silent_p.T1030T|ZNF827_uc010iox.3_Silent_p.T680T|ZNF827_uc003ikl.3_Silent_p.T115T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	1030					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACATGTTCTTCGTCTTGCAGA	0.532000														42			11		0	0	0.000673	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269461	150269461	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150269461G>A	uc003whl.3	+	2	385	c.303G>A	c.(301-303)aaG>aaA	p.K101K	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.K115K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	101							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAACGTCCAAGGAGATTATTC	0.522000														64			25		0	0	0.003330	0	0
LIN7B	64130	broad.mit.edu	37	19	49621263	49621263	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49621263A>G	uc002pmp.3	+	4	634	c.590A>G	c.(589-591)cAt>cGt	p.H197R	PPFIA3_uc002pmr.3_5'Flank|PPFIA3_uc010yai.2_5'Flank	NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	Homo sapiens lin-7 homolog B (C. elegans) (LIN7B), mRNA.	197					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CGCCAACAGCATCAGAGCTAC	0.647000														56			11		0	0	0.001368	0	0
TRPM2	7226	broad.mit.edu	37	21	45784063	45784063	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45784063C>T	uc010gpt.1	+	2	421	c.321C>T	c.(319-321)acC>acT	p.T107T	TRPM2_uc002zet.1_Silent_p.T107T|TRPM2_uc002zeu.1_Silent_p.T107T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.T107T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	107						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCCCACACCTTCCAGGGCA	0.572000														39			16		0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690488	77690488	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:77690488T>A	uc003yau.2	+	3	3525	c.3138T>A	c.(3136-3138)taT>taA	p.Y1046*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Y1020*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1020						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCCTGCTATTACTACTGTG	0.493000										HNSCC(33;0.089)				42			52		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55534779C>T	uc003xsd.1	+	2	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RP1_uc011ldy.1_Missense_Mutation_p.P240S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	240					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)			ATACTTGCTTCCTGCTAGATT	0.463000														19			22		0	0	0.002780	0	0
EVPL	2125	broad.mit.edu	37	17	74014603	74014603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74014603C>T	uc010wss.1	-	11	1591	c.1363G>A	c.(1363-1365)Ggg>Agg	p.G455R	EVPL_uc002jqi.2_Missense_Mutation_p.G455R|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	455	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGGTCTCCCCGCCAGGGCCC	0.647000														14			19		0	0	0.002299	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214133	1214133	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1214133C>T	uc003jbw.4	+	5	896	c.840C>T	c.(838-840)tcC>tcT	p.S280S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCCTTCTCCCTGGCCTTCG	0.637000														76			7		0	0	0.004482	0	0
FN1	2335	broad.mit.edu	37	2	216293030	216293030	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:216293030G>A	uc002vfa.3	-	5	983	c.717C>T	c.(715-717)tcC>tcT	p.S239S	FN1_uc002vfc.3_Silent_p.S239S|FN1_uc002vfe.3_Silent_p.S239S|FN1_uc002vff.3_Silent_p.S239S|FN1_uc002vfg.3_Silent_p.S239S|FN1_uc002vfh.3_Silent_p.S239S|FN1_uc002vfi.3_Silent_p.S239S|FN1_uc002vfj.3_Silent_p.S239S|FN1_uc002vfb.3_Silent_p.S239S|FN1_uc002vfl.3_Silent_p.S239S	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	239	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATTCTATAGGATGTCCTTG	0.478000														31			17		0	0	0.001216	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374808	48374808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:48374808C>T	uc002phr.2	-	5	902	c.762G>A	c.(760-762)tgG>tgA	p.W254*		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	254					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGTGATTTTTCCAGTCCCCAG	0.483000														15			35		0	0	0.003271	0	0
DENND3	22898	broad.mit.edu	37	8	142151412	142151412	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142151412C>T	uc003yvy.3	+	3	650	c.372C>T	c.(370-372)gaC>gaT	p.D124D	DENND3_uc003yvw.1_Silent_p.D137D|DENND3_uc003yvx.3_Missense_Mutation_p.T203I|DENND3_uc010mep.3_Silent_p.D137D	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	124	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTCAAGGACTGCCTTTCCT	0.627000														39			34		0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9069548	9069548	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9069548C>T	uc002mkp.3	-	2	18102	c.17898G>A	c.(17896-17898)agG>agA	p.R5966R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5968	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						CTATGGTCTTCCTCCTGCCAG	0.488000														42			25		0	0	0.003330	0	0
CFTR	1080	broad.mit.edu	37	7	117149196	117149196	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:117149196G>A	uc003vjd.3	+	3	405	c.273_splice	c.e3+1	p.G91_splice	CFTR_uc011knq.2_Splice_Site	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	91	ABC transmembrane type-1 1.		G -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATATTTAGGGGTAAGGATCT	0.308000									Cystic Fibrosis					119			14		0	0	0.001855	0	0
ANO4	121601	broad.mit.edu	37	12	101520688	101520688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:101520688C>T	uc010svm.1	+	26	3280	c.2708C>T	c.(2707-2709)tCa>tTa	p.S903L	ANO4_uc001thw.2_Missense_Mutation_p.S868L|ANO4_uc001thx.2_Missense_Mutation_p.S903L|ANO4_uc001thy.2_Missense_Mutation_p.S423L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	903						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCTCATTTCATATCTGATC	0.443000										HNSCC(74;0.22)				5			21		0	0	0.002299	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142688	156142688	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156142688G>A	uc001fnl.3	+	10	1385	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	SEMA4A_uc009wrq.3_Silent_p.V402V|SEMA4A_uc001fnm.3_Silent_p.V402V|SEMA4A_uc001fnn.3_Silent_p.V270V|SEMA4A_uc001fno.3_Silent_p.V402V	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	402	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATGAGCAAGTGGTGGGGACGC	0.572000														60			59		0	0	0.003610	0	0
SV2C	22987	broad.mit.edu	37	5	75581632	75581632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:75581632G>A	uc003kei.1	+	5	1208	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	358					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGCTTGGATGATTCTGAAGT	0.483000														96			16		0	0	0.001216	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024435	161024435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161024435C>T	uc001fxl.3	-	3	752	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ARHGAP30_uc001fxk.3_Missense_Mutation_p.E136K|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	136	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAGGGAGTTCCCGAAGCACC	0.522000														101			27		0	0	0.001786	0	0
DCLK3	85443	broad.mit.edu	37	3	36759552	36759553	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36759552_36759553GG>AA	uc003cgi.2	-	3	2192_2193	c.1701_1702CC>TT	c.(1699-1704)atccag>atTTag	p.Q568*		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	568	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCCAGCTGGATGATGTTAA	0.550000														65			62		0	0	0.004672	0	0
CCDC67	159989	broad.mit.edu	37	11	93122228	93122228	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93122228G>A	uc001pdq.3	+	8	1078	c.978G>A	c.(976-978)agG>agA	p.R326R	CCDC67_uc001pdo.1_Silent_p.R326R|CCDC67_uc001pdp.3_Silent_p.R326R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	326										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACCAGAAAGGAAAATAAAAG	0.284000														11			6		0	0	0.001984	0	0
OR51E2	81285	broad.mit.edu	37	11	4703801	4703801	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4703801G>A	uc001lzk.2	-	1	385	c.141C>T	c.(139-141)atC>atT	p.I47I	OR51E2_uc021qcr.1_Silent_p.I47I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCGTCCTTACGATGAAGACCA	0.512000														37			12		0	0	0.001368	0	0
FAT3	120114	broad.mit.edu	37	11	92087720	92087720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:92087720G>A	uc001pdj.4	+	0	2459	c.2442G>A	c.(2440-2442)tgG>tgA	p.W814*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	814	Cadherin 7.				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)				AATCGTCATGGAGACTGCTGA	0.413000										TCGA Ovarian(4;0.039)				251			303		0	0	0.003610	0	0
MRC2	9902	broad.mit.edu	37	17	60754805	60754805	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60754805C>T	uc002jad.3	+	11	2412	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	670					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTCCTGTCCCCAGGGCTGGG	0.672000														15			17		0	0	0.001216	0	0
PRSS57	400668	broad.mit.edu	37	19	686997	686997	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:686997G>A	uc002lpl.1	-	3	604	c.573C>T	c.(571-573)tcC>tcT	p.S191S	PRSS57_uc010xfs.1_Silent_p.S190S	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	Homo sapiens protease, serine, 57 (PRSS57), mRNA.	191	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGCCCTTCCAGGAGCTGTTGC	0.642000														38			9		0	0	0.004482	0	0
KRT72	140807	broad.mit.edu	37	12	52981575	52981575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52981575C>T	uc001sar.2	-	6	1236	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KRT72_uc001saq.2_Missense_Mutation_p.D384N|KRT72_uc010sns.1_Missense_Mutation_p.D342N|KRT72_uc010snt.1_Missense_Mutation_p.D196N	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	384	Coil 2.|Rod.					keratin filament	structural molecule activity	p.K383Q(1)		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)		GCCCGGGCATCTTTCAGGGCG	0.642000														64			17		0	0	0.004990	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638692	108638692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:108638692G>A	uc022cch.1	-	10	2387	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P768S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	768	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACACAGGAGGAGGCTTCTTA	0.468000														21			96		0	0	0.003610	0	0
UTP14C	9724	broad.mit.edu	37	13	52604614	52604614	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52604614C>T	uc001vgb.3	+	1	2236	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Silent_p.N558N	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	558					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AACTGATCAACCTACAGAACT	0.502000														35			25		0	0	0.003330	0	0
KRT3	3850	broad.mit.edu	37	12	53189292	53189292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53189292G>A	uc001say.3	-	0	601	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	179	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGCTGCAGGAGACTCTGGTTG	0.577000														53			11		0	0	0.000673	0	0
OR1C1	26188	broad.mit.edu	37	1	247921397	247921397	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247921397G>A	uc010pza.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAAGAAACGAAGAAGAAGA	0.473000														19			19		0	0	0.007413	0	0
HECW2	57520	broad.mit.edu	37	2	197183418	197183418	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197183418C>T	uc002utm.1	-	8	2379	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	HECW2_uc002utl.1_Silent_p.E376E	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E732K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCCCCCAGCTCCTCCTGGT	0.647000														10			5		0	0	0.001984	0	0
LMNA	4000	broad.mit.edu	37	1	156106056	156106056	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156106056C>T	uc001fni.2	+	6	1458	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	LMNA_uc001fnf.1_Silent_p.S403S|LMNA_uc001fng.2_Silent_p.S403S|LMNA_uc001fnh.2_Silent_p.S403S|LMNA_uc009wro.1_Silent_p.S403S|LMNA_uc010pgz.1_Silent_p.S291S|LMNA_uc001fnj.2_Silent_p.S322S|LMNA_uc001fnk.2_Silent_p.S304S|LMNA_uc009wrp.3_Missense_Mutation_p.P131L|LMNA_uc010pha.1_Silent_p.S59S	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	403	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCCGTGCTTCCTCTCACTCAT	0.642000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					44			51		0	0	0.003610	0	0
ZFP106	64397	broad.mit.edu	37	15	42742955	42742955	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42742955G>A	uc001zpw.3	-	1	1773	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Silent_p.S265S|ZFP106_uc001zpy.1_Silent_p.S505S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	482						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GTTCTCCAGGGGAAAAAAAAT	0.398000														112			60		0	0	0.003610	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370093	35370093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35370093C>T	uc001byc.3	-	0	892	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	298					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGCTCAAGTCCCGGTAGGAC	0.647000														36			20		0	0	0.001216	0	0
KCNH2	3757	broad.mit.edu	37	7	150649601	150649601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150649601G>A	uc003wic.3	-	5	1870	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	KCNH2_uc003wib.3_Missense_Mutation_p.A150V|KCNH2_uc011kux.2_Missense_Mutation_p.A394V|KCNH2_uc003wid.3_Missense_Mutation_p.A150V|KCNH2_uc003wie.3_Missense_Mutation_p.A490V	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	490			A -> T (in long QT syndrome; bradycardia- induced; dbSNP:rs28928905).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGTGGACGGCGATGCGGCC	0.592000														78			36		0	0	0.007835	0	0
PENK	5179	broad.mit.edu	37	8	57358378	57358378	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:57358378G>A	uc003xsz.2	-	0	216	c.135C>T	c.(133-135)ttC>ttT	p.F45F	AX747062_uc003xtb.1_Non-coding_Transcript|PENK_uc003xta.3_Silent_p.F45F|PENK_uc010lym.3_Silent_p.F45F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	45					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACTCACCAGGAAGTTGATGT	0.682000														41			22		0	0	0.006320	0	0
GPC5	2262	broad.mit.edu	37	13	93518683	93518683	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:93518683G>A	uc010tif.2	+	7	2076	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	570						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569P(2)|p.G570V(1)|p.P569H(1)|p.G570W(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TACTTCCCGGGATTTGGTAAC	0.433000														34			29		0	0	0.004289	0	0
AARD	441376	broad.mit.edu	37	8	117950577	117950577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:117950577C>T	uc003yof.3	+	0	114	c.95C>T	c.(94-96)cCc>cTc	p.P32L	AL832163_uc022baa.1_Non-coding_Transcript	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	32																	CCACCTCGTCCCGCGTGCGAC	0.692000														14			11		0	0	0.001368	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802839	185802839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185802839G>A	uc002uph.3	+	3	3310	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	906						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTTCTGGTGAATTGTCAGA	0.408000														27			13		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9085046	9085046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9085046C>T	uc002mkp.3	-	0	6973	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2257	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCAGTATCAGGGGAGGGG	0.463000														14			17		0	0	0.006122	0	0
PHF19	26147	broad.mit.edu	37	9	123620471	123620471	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:123620471G>A	uc004bks.1	-	14	1747	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	PHF19_uc011lyf.1_Silent_p.C289C|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTCCGAGGGGCAGCGTCCAT	0.607000														29			14		0	0	0.001855	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392681	140392681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140392681G>A	uc010ncj.1	-	16	2111	c.1774C>T	c.(1774-1776)Ccg>Tcg	p.P592S	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.P567S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	567					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACGACGGTCGGCTGCTTCCGC	0.647000														16			32		0	0	0.003271	0	0
TECPR2	9895	broad.mit.edu	37	14	102894633	102894633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102894633C>T	uc001ylw.2	+	6	1224	c.998C>T	c.(997-999)tCg>tTg	p.S333L	TECPR2_uc010awl.3_Missense_Mutation_p.S333L|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	333							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGTCTGTTTCGTGCACAGAA	0.323000														7			20		0	0	0.007413	0	0
TRBV19	28568	broad.mit.edu	37	7	142327008	142327008	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142327008G>A	uc003vzo.2	+	1	501	c.306G>A	c.(304-306)aaG>aaA	p.K102K	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CGGCCCAAAAGAACCCGACAG	0.493000														163			68		0	0	0.003610	0	0
HNF4A	3172	broad.mit.edu	37	20	43052704	43052704	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43052704C>T	uc002xma.3	+	7	1028	c.939C>T	c.(937-939)tcC>tcT	p.S313S	HNF4A_uc002xlt.3_Silent_p.S291S|HNF4A_uc002xlu.3_Silent_p.S291S|HNF4A_uc002xlv.3_Silent_p.S291S|HNF4A_uc002xly.3_Silent_p.S313S|HNF4A_uc010ggq.3_Silent_p.S306S|HNF4A_uc002xlz.3_Silent_p.S313S	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	313					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTGCGTTCCCAGGTGCAGG	0.612000														312			57		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144947005	144947005	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144947005C>T	uc003zaa.1	-	0	430	c.417G>A	c.(415-417)aaG>aaA	p.K139K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	139						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACAACCTCCTTCCCGATGG	0.677000														22			6		0	0	0.001984	0	0
CRB2	286204	broad.mit.edu	37	9	126132826	126132826	+	Nonsense_Mutation	SNP	G	A	A	rs144803819	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126132826G>A	uc004bnx.1	+	6	1586	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	CRB2_uc004bnw.1_Nonsense_Mutation_p.W498*	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	498	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACACTCTGGAGCTACAGCA	0.602000														20			25		0	0	0.002096	0	0
PCK1	5105	broad.mit.edu	37	20	56140548	56140548	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:56140548G>A	uc002xyn.4	+	9	1720	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	PCK1_uc010zzm.2_Silent_p.K202K	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	519					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGTTCCGGAAGGACAAGGAAG	0.547000														48			20		0	0	0.001216	0	0
CRB2	286204	broad.mit.edu	37	9	126133596	126133596	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126133596C>T	uc004bnx.1	+	7	2267	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	CRB2_uc004bnw.1_Silent_p.L725L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	725	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGATGGGCTCCGTCACCTGG	0.667000														81			28		0	0	0.001512	0	0
PREX2	80243	broad.mit.edu	37	8	68984784	68984784	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:68984784G>A	uc003xxv.1	+	13	1575	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L	PREX2_uc003xxu.1_Silent_p.L516L|PREX2_uc011lez.1_Silent_p.L451L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	516	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.L516L(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCAACAAACTGATAGACTGGT	0.323000														33			34		0	0	0.006999	0	0
LEPREL4	10609	broad.mit.edu	37	17	39966001	39966001	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39966001G>A	uc002hxu.3	-	4	1340	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Silent_p.F291F	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	291	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGGTGGCCACGAACTTGTCCA	0.577000														40			45		0	0	0.003214	0	0
abParts	0	broad.mit.edu	37	14	106406096	106406096	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:106406096C>T	uc021ser.1	-	3032		c.49814_splice	c.e3032-1							Parts of antibodies, mostly variable regions.																		AGCCAGAATTCAGCAGGCTCT	0.577000														4			7		0	0	0.001984	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467298	85467298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85467298C>T	uc002blg.3	+	11	1242	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	SLC28A1_uc010upd.1_Missense_Mutation_p.A269V|SLC28A1_uc010bnb.3_Missense_Mutation_p.A347V|SLC28A1_uc010upe.2_Missense_Mutation_p.A347V|SLC28A1_uc010upf.1_Missense_Mutation_p.A347V|SLC28A1_uc010upg.1_Missense_Mutation_p.A347V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	347					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)			GGAGGTTACGCCACCATTGCT	0.547000														99			11		0	0	0.000978	0	0
NCKAP5	344148	broad.mit.edu	37	2	133636465	133636465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:133636465C>T	uc002ttp.3	-	8	978	c.604G>A	c.(604-606)Gag>Aag	p.E202K	NCKAP5_uc002ttq.3_Missense_Mutation_p.E202K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	202							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTCATTCTCCAAAGCCAAC	0.398000														58			16		0	0	0.007413	0	0
SPTA1	6708	broad.mit.edu	37	1	158632567	158632567	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158632567G>A	uc001fst.1	-	16	2588	c.2389C>T	c.(2389-2391)Ctg>Ttg	p.L797L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	797					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACAAATCAGCTGCAGATGG	0.512000														18			41		0	0	0.001951	0	0
FAM35B2	439965	broad.mit.edu	37	10	47381107	47381107	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:47381107C>T	uc010qfz.2	+	0		c.1388C>T								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		ACATAAAATTCGGACCAAATT	0.343000														26			13		0	0	0.002445	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100920	27100920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27100920C>T	uc003niw.3	+	0	104	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA.	24					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.L24L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TAGGGCCGGTCTCCAGTTCCC	0.657000														61			16		0	0	0.006122	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621226	144621226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144621226G>A	uc003yyd.2	-	1	340	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	104					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTGCGGGACAGGAGGCTGGCC	0.627000														32			40		0	0	0.007835	0	0
ABCA12	26154	broad.mit.edu	37	2	215820086	215820086	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:215820086C>T	uc002vew.3	-	43	6454	c.6234_splice	c.e43-1	p.G2078_splice	ABCA12_uc002vev.3_Splice_Site_p.G1760_splice|ABCA12_uc010zjn.2_Splice_Site_p.G1005_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2078					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTGCATACCTGCAGGTTAA	0.458000														15			4		0	0	0.000602	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436188	27436188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:27436188G>A	uc011aww.2	-	19	3159	c.2938C>T	c.(2938-2940)Cca>Tca	p.P980S	SLC4A7_uc011awx.2_Missense_Mutation_p.P967S|SLC4A7_uc021wun.1_Missense_Mutation_p.P856S|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.P963S|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.P852S|SLC4A7_uc011axb.2_Missense_Mutation_p.P967S|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.P852S|SLC4A7_uc010hfl.3_Missense_Mutation_p.P521S|SLC4A7_uc003cdv.3_Missense_Mutation_p.P971S|SLC4A7_uc003cdw.3_Missense_Mutation_p.P847S	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	971						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACAAACCATGGAAGTCCCATG	0.423000														39			15		0	0	0.004007	0	0
ZNF438	220929	broad.mit.edu	37	10	31134208	31134208	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:31134208A>T	uc010qdz.2	-	7	2604	c.2169T>A	c.(2167-2169)tgT>tgA	p.C723*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.C674*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.C713*|ZNF438_uc001ivo.4_Nonsense_Mutation_p.C287*|ZNF438_uc009xlg.3_Nonsense_Mutation_p.C723*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.C713*|ZNF438_uc010qea.2_Nonsense_Mutation_p.C723*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.C723*	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCAGTCTTGGACATGCATGTG	0.527000														16			21		0	0	0.001882	0	0
IFIH1	64135	broad.mit.edu	37	2	163163336	163163336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:163163336G>A	uc002uce.3	-	2	874	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	218					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCCACTTGAGGACCATCAACT	0.383000														18			12		0	0	0.001368	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321978	134321978	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134321978C>T	uc004can.4	+	5	859	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PRRC2B_uc010mzj.1_5'Flank|PRRC2B_uc004cam.1_Silent_p.F268F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	268							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCACAGTTCATGGGAAATG	0.522000														18			21		0	0	0.001523	0	0
FAM83F	113828	broad.mit.edu	37	22	40417616	40417616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40417616G>A	uc003ayk.1	+	3	1196	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	368										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGGCGAGTCGGCCTGGCGCCT	0.711000														4			32		0	0	0.003755	0	0
RANBP2	5903	broad.mit.edu	37	2	109383182	109383182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:109383182C>T	uc002tem.4	+	19	6313	c.6187C>T	c.(6187-6189)Ctc>Ttc	p.L2063F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2063	RanBD1 2.				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	p.L2063L(1)	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						CTTAAAAATTCTCAAAAACGA	0.383000														320			139		0	0	0.003610	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146930	70146930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70146930G>A	uc003hej.3	+	0	714	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E238K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	238					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTTTTACAGTGAAGTTTTAGG	0.343000														43			21		0	0	0.003330	0	0
SPAG9	9043	broad.mit.edu	37	17	49197823	49197823	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:49197823G>A	uc002itc.3	-	0	404	c.195C>T	c.(193-195)ttC>ttT	p.F65F	SPAG9_uc002itd.3_Silent_p.F65F|SPAG9_uc002itb.3_Silent_p.F65F	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	65					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGTCCTGCGCGAACACCGAGT	0.642000														18			4		0	0	0.000602	0	0
CD22	933	broad.mit.edu	37	19	35823659	35823659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35823659G>A	uc010edt.3	+	2	328	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CD22_uc010edu.3_Missense_Mutation_p.D82N|CD22_uc010edv.3_Missense_Mutation_p.D82N|CD22_uc002nzb.4_Missense_Mutation_p.D82N|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	82	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGCACAAAGGATGGGAAGGT	0.473000														39			19		0	0	0.001216	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106152	9106152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9106152C>T	uc003brf.1	-	4	1276	c.600G>A	c.(598-600)atG>atA	p.M200I	SRGAP3_uc003brg.1_Missense_Mutation_p.M200I|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.M200I|SRGAP3_uc003brj.1_Missense_Mutation_p.M60I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGAGCAGGTTCATGCTGAGGT	0.577000			T	RAF1	pilocytic astrocytoma									66			29		0	0	0.002096	0	0
CLTCL1	8218	broad.mit.edu	37	22	19230400	19230400	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:19230400G>A	uc021wle.1	-	3	654	c.579C>T	c.(577-579)ccC>ccT	p.P193P	CLTCL1_uc021wld.1_Silent_p.P193P|CLTCL1_uc021wlc.1_Silent_p.P193P|CLTCL1_uc021wlf.1_Silent_p.P193P|CLTCL1_uc011agw.1_Silent_p.P193P	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	193	Globular terminal domain.			P -> H (in Ref. 1; AAC50494).	anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGCCTTCTATGGGTTGTGAAA	0.478000			T	?	ALCL									42			19		0	0	0.006122	0	0
CACNA1S	779	broad.mit.edu	37	1	201012516	201012516	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201012516G>A	uc001gvv.3	-	39	5168	c.4941C>T	c.(4939-4941)ttC>ttT	p.F1647F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1647					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATCTTGTGGGAAGTCCTCCA	0.552000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			63		0	0	0.003610	0	0
CDH9	1007	broad.mit.edu	37	5	26915831	26915831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:26915831C>T	uc003jgs.1	-	2	599	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CDH9_uc010iug.3_Missense_Mutation_p.E144K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143S(1)		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						ATGATAAATTCCGATTCCGGT	0.398000														150			31		0	0	0.001786	0	0
ALPK2	115701	broad.mit.edu	37	18	56203321	56203321	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:56203321C>T	uc002lhj.4	-	4	4312	c.4098G>A	c.(4096-4098)aaG>aaA	p.K1366K	ALPK2_uc002lhk.1_Silent_p.K697K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAACATTTTCCTTCCCTCCAG	0.453000														42			62		0	0	0.003610	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798671	203798671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203798671C>T	uc001hac.3	+	7	1007	c.391C>T	c.(391-393)Cct>Tct	p.P131S	ZC3H11A_uc001had.3_Missense_Mutation_p.P131S|ZC3H11A_uc001hae.3_Missense_Mutation_p.P131S|ZC3H11A_uc001haf.3_Missense_Mutation_p.P131S|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P77S|ZC3H11A_uc001hag.1_Missense_Mutation_p.P131S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	131							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGTCCAATCCTTCCCCTCA	0.483000														113			25		0	0	0.003954	0	0
ASTN1	460	broad.mit.edu	37	1	176905451	176905451	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176905451G>A	uc001glc.3	-	14	2645	c.2433C>T	c.(2431-2433)gtC>gtT	p.V811V	ASTN1_uc001glb.1_Silent_p.V811V|ASTN1_uc001gld.1_Silent_p.V811V|ASTN1_uc009wwx.1_Silent_p.V811V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	819					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACAGACCGGACCTTCCAGT	0.507000														41			17		0	0	0.001216	0	0
KLF17	128209	broad.mit.edu	37	1	44595756	44595756	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44595756G>A	uc001clp.3	+	1	871	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KLF17_uc009vxf.1_Silent_p.G234G	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	271					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CTCAGGAAGGGACTGGTAGAA	0.562000														25			20		0	0	0.001882	0	0
TSKS	60385	broad.mit.edu	37	19	50250056	50250056	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50250056C>T	uc002ppm.3	-	6	675	c.664_splice	c.e6-1	p.E222_splice		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	222							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGCTTCTCCTGGGTGGTAA	0.647000														28			5		0	0	0.000602	0	0
RASL12	51285	broad.mit.edu	37	15	65351754	65351754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65351754C>T	uc002aoi.1	-	2	378	c.163G>A	c.(163-165)Gac>Aac	p.D55N	RASL12_uc002aoj.1_Missense_Mutation_p.D36N|RASL12_uc010uir.1_Missense_Mutation_p.D44N	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	55					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CTGTAGGTGTCCTCTACAACA	0.552000														70			17		0	0	0.001882	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260607	42260607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42260607C>T	uc002orm.2	+	1	313	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	55	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCTACTCGCCCACAACCTG	0.493000														99			40		0	0	0.006999	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276937	37276937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:37276937G>A	uc002rpp.1	-	17	2651	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	852							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCAGGGCAGATTTACGAAC	0.413000														25			8		0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100350647	100350647	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100350647G>A	uc003uwj.3	+	13	3084	c.2919G>A	c.(2917-2919)acG>acA	p.T973T	ZAN_uc003uwk.3_Silent_p.T973T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	973	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACTTA	0.542000														161			32		0	0	0.002096	0	0
THRAP3	9967	broad.mit.edu	37	1	36752763	36752763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36752763C>T	uc001cae.4	+	3	1156	c.932C>T	c.(931-933)cCa>cTa	p.P311L	THRAP3_uc001caf.4_Missense_Mutation_p.P311L|THRAP3_uc001cag.1_Missense_Mutation_p.P311L	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	311	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCTGAGTCCATCCAAAAAG	0.562000			T	USP6	aneurysmal bone cysts									22			15		0	0	0.002450	0	0
DGKI	9162	broad.mit.edu	37	7	137271913	137271913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:137271913G>A	uc003vtt.3	-	12	1356	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	DGKI_uc003vtu.3_Missense_Mutation_p.P152L	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	452	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGGCTGAGGGCTCAGCTG	0.537000														95			15		0	0	0.003163	0	0
PFKFB1	5207	broad.mit.edu	37	X	54982606	54982606	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:54982606G>A	uc004dty.1	-	6	689	c.618C>T	c.(616-618)ccC>ccT	p.P206P	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Silent_p.P141P	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	206	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						cctcATCCAAGGGTTGGTAGT	0.438000														21			17		0	0	0.006122	0	0
CEP350	9857	broad.mit.edu	37	1	180062207	180062207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180062207C>T	uc001gnt.3	+	33	7350	c.6967C>T	c.(6967-6969)Cat>Tat	p.H2323Y	CEP350_uc009wxl.2_Missense_Mutation_p.H2322Y|CEP350_uc001gnv.3_Missense_Mutation_p.H458Y|CEP350_uc001gnw.1_Missense_Mutation_p.H80Y|CEP350_uc001gnx.1_Missense_Mutation_p.H80Y	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2323						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGAAAATCTCCATAAAAGTGA	0.343000														14			12		0	0	0.001855	0	0
DBC1	1620	broad.mit.edu	37	9	121929812	121929812	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:121929812G>A	uc004bkc.2	-	7	2292	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	612					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGACCGTCTCGAAAAATGTTT	0.552000														84			24		0	0	0.003330	0	0
TATDN3	128387	broad.mit.edu	37	1	212988386	212988386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:212988386C>T	uc001hjo.2	+	9	807	c.713C>T	c.(712-714)tCa>tTa	p.S238L	TATDN3_uc010ptj.1_Intron|TATDN3_uc010ptk.1_Missense_Mutation_p.S245L|TATDN3_uc001hjp.2_Missense_Mutation_p.S237L|TATDN3_uc010ptl.1_Missense_Mutation_p.S217L|TATDN3_uc010ptm.1_Missense_Mutation_p.S185L	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA.	238						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		ATTTCTATTTCAGCAGAATAT	0.433000														134			46		0	0	0.002522	0	0
DENND1C	79958	broad.mit.edu	37	19	6477258	6477258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6477258G>A	uc002mfe.3	-	7	576	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P118S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	162	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTAGGGGGGGGGATACCCTGC	0.672000														10			16		0	0	0.006122	0	0
E2F8	79733	broad.mit.edu	37	11	19251064	19251064	+	Silent	SNP	G	A	A	rs139665641	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:19251064G>A	uc001mpm.3	-	9	2352	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Silent_p.L610L	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	610					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACTGTCCTCGAGCATGCTTG	0.507000														23			86		0	0	0.003610	0	0
BRSK1	84446	broad.mit.edu	37	19	55816924	55816924	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55816924C>T	uc002qkf.3	+	17	2035	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	BRSK1_uc002qkg.3_Silent_p.I620I|BRSK1_uc002qkh.3_Silent_p.I315I	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	620					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCAGCAGCATCAAAGCAGACA	0.557000														226			59		0	0	0.003610	0	0
FKBP15	23307	broad.mit.edu	37	9	115931882	115931882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115931882C>T	uc004bgs.2	-	25	3260	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K	FKBP15_uc004bgr.2_Missense_Mutation_p.R473K|FKBP15_uc011lxc.1_Missense_Mutation_p.R617K|FKBP15_uc011lxd.1_Missense_Mutation_p.R968K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1036					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCTAGAACTCTGTGGGATGG	0.552000														23			15		0	0	0.003163	0	0
TULP3	7289	broad.mit.edu	37	12	3040401	3040401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:3040401C>T	uc001qlj.2	+	5	772	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Nonsense_Mutation_p.Q231*|TULP3_uc010sei.1_Nonsense_Mutation_p.Q88*	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	231					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAAGAAAATCAGAAGGTATG	0.403000														2			12		0	0	0.001368	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:123274229C>T	uc003ieh.3	+	78	14065	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_uc003iem.3_Missense_Mutation_p.R1030C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000														26			20		0	0	0.001523	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412151	19412151	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:19412151G>A	uc010tcj.1	-	0		c.33959C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AACCTCTTCTGGAAATTCTTC	0.498000														12			12		0	0	0.000978	0	0
EGLN3	112399	broad.mit.edu	37	14	34419857	34419857	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:34419857G>A	uc001wsa.4	-	0	428	c.102C>T	c.(100-102)ttC>ttT	p.F34F	EGLN3_uc001wry.3_Intron	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA.	34					apoptosis	cytoplasm|nucleus	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CCTCGCCCAGGAAGTTGTCCA	0.682000														25			15		0	0	0.004007	0	0
NRF1	4899	broad.mit.edu	37	7	129350218	129350218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129350218C>T	uc003vpa.3	+	6	890	c.770C>T	c.(769-771)tCa>tTa	p.S257L	NRF1_uc003voz.3_Missense_Mutation_p.S257L|NRF1_uc011kpa.2_Missense_Mutation_p.S96L|NRF1_uc003vpb.3_Missense_Mutation_p.S257L	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	257					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGACAGGTTTCATGGACCCAG	0.408000														12			91		0	0	0.003610	0	0
AVIL	10677	broad.mit.edu	37	12	58197128	58197128	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58197128A>C	uc001sqj.2	-	14	1893	c.1864T>G	c.(1864-1866)Tcc>Gcc	p.S622A	AVIL_uc009zqe.2_Missense_Mutation_p.S615A|AVIL_uc001sqk.1_Missense_Mutation_p.S200A	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	622	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTCTTATTGGAACATTCAAAG	0.448000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		435			28		0	0	0.007291	0	0
ATAD3B	83858	broad.mit.edu	37	1	1430980	1430980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1430980C>T	uc001afv.3	+	15	1831	c.1730C>T	c.(1729-1731)cCt>cTt	p.P577L	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.P531L	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	577							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGGAGGGGCCTGGGCGCGGG	0.672000														10			25		0	0	0.003330	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284989	125284989	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:125284989G>A	uc010flu.3	+	9	1969	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	CNTNAP5_uc002tno.3_Silent_p.G534G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	534	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTCCCTGGGGAATTTTAGTG	0.423000														64			21		0	0	0.001216	0	0
JAM2	58494	broad.mit.edu	37	21	27062200	27062200	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:27062200C>T	uc002ylp.1	+	2	701	c.156C>T	c.(154-156)acC>acT	p.T52T	JAM2_uc011ace.1_Silent_p.T52T|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	52	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTGCAAAACCCCAAAGAAGA	0.378000														92			31		0	0	0.006230	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687365	8687365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8687365C>T	uc001quo.1	-	5	694	c.529G>A	c.(529-531)Gag>Aag	p.E177K		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	177	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GCACAGTCCTCCAGGGTAGCT	0.413000														20			45		0	0	0.003610	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74648914	74648914	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:74648914C>T	uc004ecg.3	-	7	1081	c.603_splice	c.e7+1	p.R201_splice	ZDHHC15_uc004ech.3_Splice_Site_p.R192_splice|ZDHHC15_uc011mqo.1_Intron	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	201						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTAACTTACTCTCCAGTATTT	0.373000														14			5		0	0	0.000602	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235747	6235747	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:6235747G>A	uc001mck.4	-	10	2852	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	FAM160A2_uc001mcl.4_Silent_p.F817F	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	817					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCTGGGAAGTCCTCCT	0.557000														15			65		0	0	0.003610	0	0
DDX51	317781	broad.mit.edu	37	12	132627287	132627287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:132627287G>A	uc001ujy.4	-	2	695	c.656C>T	c.(655-657)tCg>tTg	p.S219L	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	219					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S219S(1)		endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AAAGTAGGACGAGATGCCGTG	0.622000														25			16		0	0	0.004990	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019596	76019596	+	Silent	SNP	C	T	T	rs114593678	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76019596C>T	uc002bax.1	+	3	762	c.540C>T	c.(538-540)taC>taT	p.Y180Y		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 1 (ODF3L1), mRNA.	180										kidney(1)|lung(1)	2						CTCCCTGCTACAGTCTGGCCT	0.602000														41			35		0	0	0.002445	0	0
MORC2	22880	broad.mit.edu	37	22	31338233	31338233	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:31338233T>A	uc003aje.1	-	7	1630	c.266A>T	c.(265-267)aAt>aTt	p.N89I		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	151							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCCGAGCATTCCAGGTGGG	0.502000														26			162		0	0	0.003610	0	0
ZAN	7455	broad.mit.edu	37	7	100346084	100346084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100346084C>T	uc003uwj.3	+	10	1405	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	ZAN_uc003uwk.3_Missense_Mutation_p.P414S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	414	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGAGGTTTCCCTAATGCAGG	0.582000														2			18		0	0	0.007413	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43947864	43947864	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43947864T>A	uc010yny.2	+	15	2600	c.2517T>A	c.(2515-2517)taT>taA	p.Y839*	PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.Y838*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	839	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGACATTATATTATTTTCGGA	0.318000														245			327		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164776809	164776809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164776809C>T	uc003fei.3	-	11	1403	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	447	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTGTGTTTCCCCTCTCATA	0.353000										HNSCC(35;0.089)				17			11		0	0	0.001855	0	0
DOCK4	9732	broad.mit.edu	37	7	111430560	111430560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:111430560G>A	uc003vfy.3	-	31	3645	c.3376C>T	c.(3376-3378)Cat>Tat	p.H1126Y	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.H531Y|DOCK4_uc003vfx.3_Missense_Mutation_p.H1090Y	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1090	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCATATCATGAAAAATTGGA	0.483000														55			20		0	0	0.002299	0	0
TNR	7143	broad.mit.edu	37	1	175306693	175306693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175306693C>T	uc001gkp.1	-	16	3586	c.3505G>A	c.(3505-3507)Gat>Aat	p.D1169N	TNR_uc009wwu.1_Missense_Mutation_p.D1169N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1169	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGGTCATATCACAGTACACT	0.512000														29			37		0	0	0.006999	0	0
RDH12	145226	broad.mit.edu	37	14	68191281	68191281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:68191281G>A	uc001xjz.4	+	3	484	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	54					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CATTGGCAAGGAGACGGCCAG	0.557000														15			11		0	0	0.000673	0	0
VSIG10	54621	broad.mit.edu	37	12	118520187	118520187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:118520187G>A	uc001tws.3	-	2	743	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	137	Ig-like C2-type 2.					integral to membrane		p.P137H(1)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGCCGTTGGGGAGTGTGCCG	0.597000														7			33		0	0	0.002445	0	0
SPATC1	375686	broad.mit.edu	37	8	145094953	145094954	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145094953_145094954GG>AA	uc011lkw.2	+	1	457_458	c.355_356GG>AA	c.(355-357)ggc>AAc	p.G119N	SPATC1_uc011lkx.2_Missense_Mutation_p.G119N	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	119										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTGACAGGCACCCTCAGC	0.649000														27			12		0	0	0.004672	0	0
CILP2	148113	broad.mit.edu	37	19	19655067	19655067	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19655067C>T	uc002nmw.4	+	7	1816	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	CILP2_uc002nmv.4_Silent_p.P571P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	571						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACACGATCCCCCTGGGCGAGC	0.632000														87			25		0	0	0.004656	0	0
NCOR1	9611	broad.mit.edu	37	17	15968285	15968285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:15968285G>A	uc002gpo.3	-	33	5269	c.5000C>T	c.(4999-5001)cCa>cTa	p.P1667L	NCOR1_uc002gpn.3_Missense_Mutation_p.P1683L|NCOR1_uc002gpm.3_Missense_Mutation_p.P187L|NCOR1_uc010vwb.2_Missense_Mutation_p.P251L|NCOR1_uc010coy.3_Missense_Mutation_p.P575L|NCOR1_uc010vwc.2_Missense_Mutation_p.P477L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1667	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.H1666Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGTTCCCCCTGGATGAGGCAC	0.423000														55			12		0	0	0.000978	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10934997C>T	uc002yip.1	-	15	1164	c.796_splice	c.e15-1	p.E266_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E248_splice|TPTE_uc002yir.1_Splice_Site_p.E228_splice|TPTE_uc010gkv.1_Splice_Site_p.E128_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333000														67			11		0	0	0.002450	0	0
FAM59A	64762	broad.mit.edu	37	18	29867085	29867085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29867085G>A	uc002kxl.3	-	3	1531	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	FAM59A_uc002kxk.2_Missense_Mutation_p.S492F	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	492										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGGAAGAGGAGAAGTCGCACA	0.537000														80			32		0	0	0.002096	0	0
PDE1C	5137	broad.mit.edu	37	7	31855735	31855735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31855735G>A	uc003tcm.2	-	14	2077	c.1616C>T	c.(1615-1617)gCt>gTt	p.A539V	PDE1C_uc003tcn.1_Missense_Mutation_p.A539V|PDE1C_uc003tco.2_Missense_Mutation_p.A599V|PDE1C_uc003tcr.3_Missense_Mutation_p.A539V|PDE1C_uc003tcs.3_Missense_Mutation_p.A539V	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	539					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)			GGCCAGGCGAGCCTTTTCCTC	0.512000														123			61		0	0	0.003610	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	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														57			51		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38320211	38320211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38320211C>T	uc010abx.3	-	2	995	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.D254N|TRPC4_uc001uws.3_Missense_Mutation_p.D254N|TRPC4_uc010tey.2_Missense_Mutation_p.D254N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.D254N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	254	Multimerization domain (By similarity).				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)		TCCAGTAGGTCCTTAGCAAAT	0.413000														46			29		0	0	0.002096	0	0
TDP1	55775	broad.mit.edu	37	14	90446902	90446902	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:90446902C>T	uc001xxy.3	+	7	1109	c.810C>T	c.(808-810)ctC>ctT	p.L270L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.L270L|TDP1_uc010atn.3_Silent_p.L270L|TDP1_uc001xya.3_Silent_p.L31L|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	270					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGCTGCTGCTCTATGAAGAAG	0.418000								Repair of DNA-protein crosslinks						13			37		0	0	0.002222	0	0
MRVI1	10335	broad.mit.edu	37	11	10647561	10647561	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10647561C>T	uc010rcc.1	-	8	1706	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	MRVI1_uc010rcb.1_Silent_p.Q432Q|MRVI1_uc001miw.2_Silent_p.Q431Q|MRVI1_uc001mix.3_Silent_p.Q125Q|MRVI1_uc001miz.2_Silent_p.Q349Q|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Silent_p.Q125Q|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	413					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCACTTGTATCTGAAAGTCTT	0.587000														0			9		0	0	0.004482	0	0
SSX7	280658	broad.mit.edu	37	X	52682029	52682029	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:52682029G>A	uc004dqx.1	-	2	234	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	25	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CAATATCATCGAAGGACTAGG	0.413000														6			55		0	0	0.003610	0	0
CCDC62	84660	broad.mit.edu	37	12	123285920	123285920	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:123285920C>T	uc001udc.3	+	8	1389	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Silent_p.L170L|CCDC62_uc021rfn.1_Silent_p.L224L	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	409						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACACAACCTCCCTTGGTCTC	0.418000														5			12		0	0	0.003163	0	0
DDR2	4921	broad.mit.edu	37	1	162746107	162746107	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:162746107C>T	uc001gcf.3	+	16	2695	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	DDR2_uc001gcg.3_Nonsense_Mutation_p.Q744*|Metazoa_SRP_uc021pds.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	744	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TTACCGGATCCAGGGCCGGGC	0.493000														120			28		0	0	0.002445	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022449	161022449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161022449G>A	uc001fxl.3	-	6	1149	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ARHGAP30_uc001fxk.3_Missense_Mutation_p.P268L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.P114L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P114L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTATGGTAGGGCCGCATCTG	0.592000														29			6		0	0	0.001168	0	0
CCDC108	255101	broad.mit.edu	37	2	219870935	219870935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219870935G>A	uc002vjl.1	-	30	4814	c.4730C>T	c.(4729-4731)cCc>cTc	p.P1577L		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1577						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCTTGATGGGAGGCAGTGT	0.612000														24			11		0	0	0.002450	0	0
GLP2R	9340	broad.mit.edu	37	17	9765355	9765355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:9765355G>A	uc002gmd.1	+	8	1004	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	335					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACAACAAATGGGAATAAGAAA	0.473000														58			78		0	0	0.003610	0	0
CDCP1	64866	broad.mit.edu	37	3	45152315	45152315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45152315G>A	uc003com.3	-	3	809	c.674C>T	c.(673-675)tCt>tTt	p.S225F	CDCP1_uc003con.3_Missense_Mutation_p.S225F	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	225						extracellular region|integral to membrane|plasma membrane		p.E224*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCAAACACAGACTCGATGAT	0.552000														92			104		0	0	0.003610	0	0
CPT1B	1375	broad.mit.edu	37	22	51011367	51011367	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51011367G>T	uc003bmm.3	-	10	1388	c.1289C>A	c.(1288-1290)cCc>cAc	p.P430H	CPT1B_uc003bmk.4_Missense_Mutation_p.P430H|CPT1B_uc003bml.3_Missense_Mutation_p.P430H|CPT1B_uc003bmo.3_Missense_Mutation_p.P430H|CPT1B_uc011asa.2_Missense_Mutation_p.P396H|CPT1B_uc003bmn.3_Missense_Mutation_p.P430H|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.P227H|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	430					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.D429N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCATCTTCGGGGTCATAGGA	0.572000														185			31		1.22384e-17	1.94611e-17	0.002836	1	0
UNC5A	90249	broad.mit.edu	37	5	176306753	176306754	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176306753_176306754CC>TA	uc003mey.3	+	14	2587_2588	c.2395_2396CC>TA	c.(2395-2397)ccc>TAc	p.P799Y		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	799	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGCCCAGCCCCACAGCCATG	0.693000														51			11		0	0	0.004672	0	0
NUP153	9972	broad.mit.edu	37	6	17649490	17649490	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:17649490G>A	uc003ncd.1	-	11	1637	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	NUP153_uc011dje.1_Silent_p.I510I|NUP153_uc010jpl.1_Silent_p.I479I	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	479					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAGAACTGGTGATCGGTAGAG	0.373000														85			12		0	0	0.001368	0	0
DSC3	1825	broad.mit.edu	37	18	28574254	28574254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28574254G>A	uc002kwj.4	-	15	2733	c.2578C>T	c.(2578-2580)Cca>Tca	p.P860S	DSC3_uc002kwi.4_3'UTR	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	860					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAACCAGCTGGAGATCCTCTT	0.388000														38			16		0	0	0.007413	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993706	45993706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45993706C>T	uc002zfk.1	+	0	101	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	24						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GACTCTTGCTCCGACTCCTGG	0.682000														92			23		0	0	0.005443	0	0
NR5A2	2494	broad.mit.edu	37	1	200017507	200017507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200017507C>T	uc001gvb.3	+	4	877	c.671C>T	c.(670-672)cCt>cTt	p.P224L	NR5A2_uc001gvc.3_Missense_Mutation_p.P178L|NR5A2_uc009wzh.3_Missense_Mutation_p.P184L|NR5A2_uc010pph.2_Missense_Mutation_p.P152L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	224					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAAGGCCTACCTCTGAACCAT	0.512000														57			101		0	0	0.003610	0	0
BTNL8	79908	broad.mit.edu	37	5	180338607	180338607	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180338607G>A	uc003mmp.3	+	2	900	c.666G>A	c.(664-666)caG>caA	p.Q222Q	BTNL8_uc003mmq.3_Silent_p.Q222Q|BTNL8_uc010jll.3_Silent_p.Q222Q|BTNL8_uc011dhg.2_Silent_p.Q97Q|BTNL8_uc010jlm.3_Silent_p.Q106Q|BTNL8_uc011dhh.2_Silent_p.Q38Q	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	222	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGTACAGATAGGAGGTG	0.547000														56			14		0	0	0.002450	0	0
PRSS50	29122	broad.mit.edu	37	3	46758961	46758961	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46758961G>A	uc003cqe.1	-	1	755	c.273C>T	c.(271-273)ttC>ttT	p.F91F	PRSS50_uc021wxe.1_Silent_p.F91F|PRSS50_uc003cqf.2_Silent_p.F5F	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	91					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGAAACTGGGAATTGGGTCT	0.607000														41			14		0	0	0.007413	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783812	140783812	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140783812C>T	uc003lkh.2	+	0	1293	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.P431P	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	433	Cadherin 4.				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)			GAACTCCGCCCCTGTCCACAG	0.453000														7			29		0	0	0.001786	0	0
CA1	759	broad.mit.edu	37	8	86253846	86253846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:86253846C>T	uc022axc.1	-	0	98	c.19G>A	c.(19-21)Gga>Aga	p.G7R	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.G7R|CA1_uc022axd.1_Missense_Mutation_p.G7R|CA1_uc010mae.2_Missense_Mutation_p.G7R|CA1_uc003ydi.3_Missense_Mutation_p.G7R	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	7					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATCATATCCCCAGTCTGGA	0.328000														51			16		0	0	0.007413	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695493	219695493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219695493C>T	uc002vjb.1	-	2	224	c.205G>A	c.(205-207)Ggg>Agg	p.G69R	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.G69R|PRKAG3_uc010zko.1_Missense_Mutation_p.G69R	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	69					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGCTCCCCTTCCTCCACC	0.612000														42			26		0	0	0.005443	0	0
GABRA5	2558	broad.mit.edu	37	15	27193130	27193130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:27193130G>A	uc001zbd.2	+	10	1671	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	GABRA5_uc021sgi.1_Missense_Mutation_p.G380E|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTACAACTGGGAAGATGTCT	0.438000														4			8		0	0	0.003080	0	0
CHRM3	1131	broad.mit.edu	37	1	240071103	240071103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240071103G>A	uc021plc.1	+	0	352	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	CHRM3_uc001hyp.3_Missense_Mutation_p.G118R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	118					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)	TCTGATTATCGGGGTCATTTC	0.478000														58			15		0	0	0.004007	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377262	104377262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:104377262G>A	uc003vce.3	+	1	710	c.586G>A	c.(586-588)Gga>Aga	p.G196R	LHFPL3_uc003vcf.3_Missense_Mutation_p.G196R	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	182						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGCTATTATTGGAATTTTGGA	0.458000														30			22		0	0	0.002299	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236460	103236461	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103236460_103236461CC>TT	uc002tca.3	+	0	295_296	c.153_154CC>TT	c.(151-156)agccct>agTTct	p.P52S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	52						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCGCCTAGCCCTGCGAGCGT	0.678000														11			8		0	0	0.004672	0	0
POM121	9883	broad.mit.edu	37	7	72413956	72413956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72413956C>T	uc003twk.2	+	10	3424	c.3424C>T	c.(3424-3426)Ccc>Tcc	p.P1142S	POM121_uc003twj.3_Missense_Mutation_p.P877S|POM121_uc010lam.1_Missense_Mutation_p.P877S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1142	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CACCTCCACCCCCTTCGCAGG	0.612000														37			18		0	0	0.007291	0	0
SCN5A	6331	broad.mit.edu	37	3	38607912	38607912	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38607912G>A	uc021wvo.1	-	19	3880	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	SCN5A_uc021wvk.1_Silent_p.F1275F|SCN5A_uc021wvl.1_Silent_p.F1222F|SCN5A_uc021wvm.1_Silent_p.F1276F|SCN5A_uc021wvn.1_Silent_p.F1275F|SCN5A_uc021wvp.1_Silent_p.F1276F|SCN5A_uc021wvq.1_Silent_p.F1275F|SCN5A_uc021wvr.1_Silent_p.F1276F|SCN5A_uc021wvs.1_Silent_p.F1276F|SCN5A_uc021wvt.1_Silent_p.F1275F|SCN5A_uc021wvu.1_Silent_p.F1222F|SCN5A_uc021wvv.1_Silent_p.F1276F|SCN5A_uc021wvj.1_Silent_p.F1088F|SCN5A_uc021wvi.1_Silent_p.F1142F|SCN5A_uc021wvw.1_Silent_p.F886F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1276					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)	CTACGATGAGGAAGTCGAGCC	0.577000														44			17		0	0	0.001216	0	0
CNPY3	10695	broad.mit.edu	37	6	42906465	42906465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42906465C>T	uc003ota.4	+	5	1222	c.773C>T	c.(772-774)cCc>cTc	p.P258L	CNPY3_uc003otb.4_Missense_Mutation_p.P169L	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	258	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GACCCCAGCCCCGAGGAGGAT	0.612000														5			33		0	0	0.002222	0	0
GRM4	2914	broad.mit.edu	37	6	34101185	34101185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:34101185G>A	uc003oir.4	-	0	452	c.89C>T	c.(88-90)tCc>tTc	p.S30F	GRM4_uc011dsn.2_Missense_Mutation_p.S30F|GRM4_uc010jvh.3_Missense_Mutation_p.S30F|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	30					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTTTCCCAGGGAGGAAGGCAT	0.632000														47			10		0	0	0.000673	0	0
FBXL7	23194	broad.mit.edu	37	5	15928222	15928222	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:15928222C>T	uc003jfn.1	+	2	832	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	117	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TAGACCGGCTCCCGGACCACT	0.692000														3			9		0	0	0.000978	0	0
EPPK1	83481	broad.mit.edu	37	8	144940509	144940509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144940509G>A	uc003zaa.1	-	0	6926	c.6913C>T	c.(6913-6915)Cgc>Tgc	p.R2305C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2305						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACGGCGCGCTCGGCCGAC	0.697000														114			15		0	0	0.004990	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270486	153270486	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153270486G>A	uc001fbn.1	-	6	1025	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	324					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.L323L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCCAGGGGACAGGATGT	0.592000														72			142		0	0	0.003610	0	0
GLIS1	148979	broad.mit.edu	37	1	54060041	54060041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:54060041G>A	uc001cvr.1	-	2	1102	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	179					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGCCTCCAAGGCTTGGGCCA	0.687000														8			11		0	0	0.001368	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806560	97806560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97806560G>A	uc011bgs.2	+	0	544	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTTCTACTGTGAAATTTTACA	0.308000														60			17		0	0	0.006122	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478219	42478220	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42478219_42478220GG>AA	uc002igw.2	-	7	1444_1445	c.1225_1226CC>TT	c.(1225-1227)ccc>TTc	p.P409F	GPATCH8_uc002igv.2_Missense_Mutation_p.P331F|GPATCH8_uc010wiz.2_Missense_Mutation_p.P331F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	409						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTAGAAAGGGAAAATTAGGT	0.431000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			20		0	0	0.004672	0	0
CGN	57530	broad.mit.edu	37	1	151498197	151498197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151498197C>T	uc009wmw.3	+	8	1838	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	559	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAGACTTCAGAGGAGACA	0.552000														25			36		0	0	0.006230	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348823	38348823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38348823C>T	uc003cib.2	+	1	668	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	SLC22A14_uc010hhc.1_Missense_Mutation_p.L199F|SLC22A14_uc003cia.2_Missense_Mutation_p.L199F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	199						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATAGGCTCTCTCATCTTCAG	0.537000														25			30		0	0	0.003271	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789060	56789060	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:56789060G>A	uc003dih.2	-	5	530	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ARHGEF3_uc011bew.1_Silent_p.F108F|ARHGEF3_uc011bev.1_Silent_p.F79F|ARHGEF3_uc003dif.2_Silent_p.F114F|ARHGEF3_uc003dig.2_Silent_p.F108F|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Silent_p.F108F	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	108	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGCACACATCGAAGGTCTCAC	0.582000														72			26		0	0	0.006320	0	0
TULP2	7288	broad.mit.edu	37	19	49388798	49388798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49388798C>T	uc002pkz.2	-	8	1119	c.968G>A	c.(967-969)cGa>cAa	p.R323Q		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	323					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCTTCTCTTTCGCCCAGCCAG	0.512000														40			15		0	0	0.002450	0	0
FARP1	10160	broad.mit.edu	37	13	99061620	99061620	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:99061620C>T	uc001vnh.3	+	13	1682	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	FARP1_uc001vnj.3_Silent_p.S481S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	481					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTTTCCGAGCTGTCTG	0.517000														27			17		0	0	0.002299	0	0
EPHA6	285220	broad.mit.edu	37	3	96706726	96706726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:96706726G>A	uc010how.1	+	2	1046	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	EPHA6_uc003drp.1_Missense_Mutation_p.E335K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	240	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAGAGTGCTGAAGAGCGTGA	0.478000														110			33		0	0	0.003755	0	0
TAF1C	9013	broad.mit.edu	37	16	84215990	84215990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84215990G>A	uc002fhn.3	-	6	781	c.539C>T	c.(538-540)cCc>cTc	p.P180L	TAF1C_uc010vnz.2_5'UTR|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_5'UTR|TAF1C_uc002fhm.3_Missense_Mutation_p.P113L|TAF1C_uc010vnx.2_Missense_Mutation_p.P180L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Missense_Mutation_p.P180L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCCAGGATGGGGCCCCCGAG	0.657000														5			3		0	0	0.004672	0	0
ACVRL1	94	broad.mit.edu	37	12	52307413	52307413	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52307413C>T	uc001rzj.3	+	3	667	c.384C>T	c.(382-384)gcC>gcT	p.A128A	ACVRL1_uc001rzk.3_Silent_p.A128A|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	128					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)	CCGTGCTGGCCTTGCTGGCCC	0.682000														23			7		0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270786	233270786	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233270786G>A	uc001hvl.2	-	20	4045	c.3810C>T	c.(3808-3810)ttC>ttT	p.F1270F	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1270						integral to membrane		p.F1270F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACACCATGAAGAAATCCAGTA	0.338000														39			45		0	0	0.003610	0	0
LGALS4	3960	broad.mit.edu	37	19	39294164	39294164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39294164G>A	uc002ojg.3	-	6	782	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	LGALS4_uc010xuj.2_3'UTR	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	190					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCATACCGGGTTGAAGGTT	0.537000														51			20		0	0	0.003330	0	0
SCFD1	23256	broad.mit.edu	37	14	31191097	31191097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31191097C>T	uc001wqm.1	+	21	1768	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	SCFD1_uc001wqn.1_Missense_Mutation_p.P515S|SCFD1_uc010tpg.1_Missense_Mutation_p.P523S|SCFD1_uc010tph.1_Missense_Mutation_p.P397S|SCFD1_uc010amf.1_Missense_Mutation_p.P397S|SCFD1_uc010tpi.1_Missense_Mutation_p.P490S	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	582					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGCTCAGTTCCCAGAAATAA	0.338000														66			35		0	0	0.006999	0	0
MXRA5	25878	broad.mit.edu	37	X	3241058	3241058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3241058C>T	uc004crg.4	-	4	2825	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	890						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)				TCGGAAAGGTCATCAACAACT	0.473000														6			46		0	0	0.003610	0	0
DCAF6	55827	broad.mit.edu	37	1	168044630	168044630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:168044630C>T	uc001gew.3	+	18	2893	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	DCAF6_uc001gex.3_Missense_Mutation_p.S938L|DCAF6_uc010plk.2_Missense_Mutation_p.S907L|DCAF6_uc001gev.3_Missense_Mutation_p.S867L|DCAF6_uc001gey.3_Missense_Mutation_p.S720L|DCAF6_uc001gez.3_Missense_Mutation_p.S150L	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	847					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GGTGACAGATCAGAAGGCTCT	0.318000														9			10		0	0	0.001855	0	0
CENPF	1063	broad.mit.edu	37	1	214794131	214794131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214794131C>T	uc001hkm.3	+	5	881	c.707C>T	c.(706-708)cCa>cTa	p.P236L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	236	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAGAACTCCAATTAGGAGA	0.438000														90			82		0	0	0.003610	0	0
PDE5A	8654	broad.mit.edu	37	4	120419785	120419785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:120419785C>T	uc003idh.3	-	20	2754	c.2599G>A	c.(2599-2601)Ggg>Agg	p.G867R	PDE5A_uc003idf.3_Missense_Mutation_p.G825R|PDE5A_uc003idg.3_Missense_Mutation_p.G815R|LOC645513_uc021xrg.1_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	867					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CCGCTTTCCCCATTAATCAGC	0.493000														39			21		0	0	0.002780	0	0
GPSM1	26086	broad.mit.edu	37	9	139250996	139250996	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139250996G>A	uc004chd.2	+	12	2035	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	GPSM1_uc011mdu.1_Silent_p.K96K|GPSM1_uc022bpn.1_Silent_p.K96K|GPSM1_uc004che.2_Silent_p.K96K	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	605	GoLoco 3.				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGCTCATCAAGTACCAGGTGG	0.682000														13			5		0	0	0.001168	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306454	2306454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:2306454G>A	uc003gex.2	-	7	1933	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.S468L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.S508L|ZFYVE28_uc003gew.2_Missense_Mutation_p.S424L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	538					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACGGGCTCCGAGGCGGCCTC	0.672000														21			8		0	0	0.003080	0	0
MYO5A	4644	broad.mit.edu	37	15	52664505	52664505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:52664505G>A	uc002aby.2	-	20	2877	c.2633C>T	c.(2632-2634)gCc>gTc	p.A878V	MYO5A_uc002abx.3_Missense_Mutation_p.A878V|MYO5A_uc010uge.1_Missense_Mutation_p.A747V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	878	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTGTGTGCGGGCCAGCCAGCC	0.527000														32			14		0	0	0.001855	0	0
ACE	1636	broad.mit.edu	37	17	61571734	61571734	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61571734C>T	uc002jau.2	+	22	3316	c.3282_splice	c.e22-1	p.R1094_splice	ACE_uc010wpj.2_Splice_Site_p.R520_splice|ACE_uc010ddv.2_Splice_Site_p.R321_splice|ACE_uc002jav.2_Splice_Site_p.R520_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R340_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1094	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTCGACAGGCTGAAGTACCA	0.552000														20			9		0	0	0.000673	0	0
ATOH8	84913	broad.mit.edu	37	2	85982046	85982046	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:85982046C>A	uc002sqm.4	+	0	1138	c.734C>A	c.(733-735)aCc>aAc	p.T245N	ATOH8_uc002sqn.3_Missense_Mutation_p.T245N	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	Homo sapiens atonal homolog 8 (Drosophila) (ATOH8), mRNA.	245	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGGTGCACACCATCAGCGCA	0.706000														27			15		1.05317e-09	1.6667e-09	0.002450	1	0
RPL18	6141	broad.mit.edu	37	19	49122432	49122432	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49122432A>C	uc002pjq.1	-	1	1	c.-32_splice	c.e1-1		RPL18_uc010xzs.1_Splice_Site|RPL18_uc021uwv.1_Splice_Site|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		AGGTCCGGAAAGAGAGAACGG	0.662000														5			3		0	0	0.004672	0	0
ASXL2	55252	broad.mit.edu	37	2	26022340	26022340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26022340G>A	uc002rgs.2	-	3	538	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	106	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGAATCTGACTGACCATC	0.458000														99			41		0	0	0.006999	0	0
ILDR1	286676	broad.mit.edu	37	3	121720279	121720279	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121720279G>A	uc003ees.3	-	4	725	c.522C>T	c.(520-522)atC>atT	p.I174I	ILDR1_uc003eeq.3_Silent_p.I186I|ILDR1_uc003eer.3_Silent_p.I174I|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	174						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)		CTCCCAGGATGATGAAGATCA	0.542000														21			18		0	0	0.007413	0	0
PARD3B	117583	broad.mit.edu	37	2	206166390	206166390	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:206166390G>A	uc002var.2	+	17	2802	c.2595G>A	c.(2593-2595)agG>agA	p.R865R	PARD3B_uc010fub.2_Silent_p.R865R|PARD3B_uc002vao.2_Silent_p.R865R|PARD3B_uc002vap.2_Silent_p.R803R|PARD3B_uc002vaq.2_Silent_p.R796R	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	865	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		atccagaaaggaaaataaaga	0.418000														10			13		0	0	0.001368	0	0
FMOD	2331	broad.mit.edu	37	1	203316739	203316739	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203316739C>T	uc001gzr.3	-	1	796	c.660G>A	c.(658-660)agG>agA	p.R220R		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	220					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			ACCGGAGGCCCCTCATGGAAC	0.567000														105			28		0	0	0.005443	0	0
PKP2	5318	broad.mit.edu	37	12	32974422	32974422	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32974422G>A	uc001rlj.4	-	9	2128	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	PKP2_uc001rlk.4_Silent_p.P627P|PKP2_uc010skj.2_Silent_p.P624P	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	671					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCACGCCCTTGGGGTTGCTCT	0.478000														41			33		0	0	0.002836	0	0
PSMB8	5696	broad.mit.edu	37	6	32809461	32809461	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32809461T>C	uc003oce.3	-	4	632	c.589A>G	c.(589-591)Atg>Gtg	p.M197V	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.M193V|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	197					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	p.T196T(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						GTGGAGAACATATTTCCTGAG	0.502000														198			106		0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73550937	73550937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73550937C>T	uc001jrx.4	+	44	6479	c.6089C>T	c.(6088-6090)tCg>tTg	p.S2030L		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2033	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAGGCATTCTCGCCACCCATC	0.622000														13			4		0	0	0.000248	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428848	19428848	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:19428848G>A	uc010tcj.1	-	0		c.17262C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		caaagtgctgggattacaggt	0.448000														7			5		0	0	0.000602	0	0
DSG1	1828	broad.mit.edu	37	18	28918289	28918289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28918289G>A	uc002kwp.3	+	9	1489	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	426	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.M425T(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGTAATGGGAAATAATCCA	0.303000														16			26		0	0	0.007291	0	0
ERC2	26059	broad.mit.edu	37	3	55733504	55733504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:55733504C>T	uc021wzo.1	-	14	2889	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.D913N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	917						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)		tggtCATCATCATAGTTGTCT	0.498000														145			50		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10400511	10400511	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10400511C>T	uc002gmo.3	-	33	4626	c.4532_splice	c.e33-1	p.Q1511_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1511						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						GAAATCTCCTCTGTTGGTGAA	0.328000														28			7		0	0	0.003080	0	0
PDGFRA	5156	broad.mit.edu	37	4	54294293	54294293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:54294293C>T	uc003gzy.3	+	12	1303	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Missense_Mutation_p.P358S|PDGFRA_uc011bzt.1_Missense_Mutation_p.P337S|PDGFRA_uc011bzu.2_Missense_Mutation_p.P358S|PDGFRA_uc003gzz.3_Missense_Mutation_p.P299S|PDGFRA_uc003hab.3_Missense_Mutation_p.P338S|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_5'UTR	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.P373T(1)		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)	tccacctcctccatttcttcc	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				12			18		0	0	0.007413	0	0
CD33	945	broad.mit.edu	37	19	51742917	51742917	+	Missense_Mutation	SNP	G	A	A	rs148758925	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51742917G>A	uc002pwa.2	+	6	1109	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	357					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			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)	CACCTCCACCGAATACTCAGA	0.527000														37			11		0	0	0.000978	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517586	75517587	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:75517586_75517587CC>TT	uc003udw.1	+	3	1098_1099	c.1014_1015CC>TT	c.(1012-1017)agccct>agTTct	p.P339S	RHBDD2_uc003udv.1_Missense_Mutation_p.P198S	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	339						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTGTGAACAGCCCTGGCACGGT	0.619000														70			128		0	0	0.004672	0	0
MUC3A	4584	broad.mit.edu	37	7	100552270	100552270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100552270G>A	uc003uxl.1	+	0	1521	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	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						TCCATGTGTTGAAATGGATCC	0.473000														461			60		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140745253C>T	uc003lju.2	+	0	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F452F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	454	Cadherin 4.				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)			CACCCAATTTCCCTCAAGCCT	0.522000														138			27		0	0	0.005443	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870620	140870620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140870620C>T	uc003lla.2	+	0	1813	c.1813C>T	c.(1813-1815)Ctc>Ttc	p.L605F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.L605F	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	605	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)			CAATGCGTGGCTCTCCTACTC	0.617000														17			31		0	0	0.003271	0	0
COL20A1	57642	broad.mit.edu	37	20	61937319	61937319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61937319G>A	uc011aau.2	+	4	524	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	COL20A1_uc011aav.2_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	142					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCCCACACGGGGAGCCCAGA	0.642000														57			6		0	0	0.001984	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58345576	58345576	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58345576C>T	uc001sqp.3	+	3	391	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	117					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						ATAATCAGGCCCATATGAACA	0.418000														499			30		0	0	0.002445	0	0
ASIC4	55515	broad.mit.edu	37	2	220396617	220396617	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220396617G>A	uc002vlz.3	+	1	1275	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	ASIC4_uc010fwi.2_Silent_p.R367R|ASIC4_uc010fwj.2_Silent_p.R367R|ASIC4_uc002vly.2_Silent_p.R367R|ASIC4_uc002vma.3_Silent_p.R367R|ASIC4_uc002vmb.3_Silent_p.R21R	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	367						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCATCTGGAGGGAGACAAGTA	0.667000														38			29		0	0	0.001512	0	0
EPHA7	2045	broad.mit.edu	37	6	93964399	93964399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:93964399C>T	uc003poe.3	-	13	2739	c.2498G>A	c.(2497-2499)gGa>gAa	p.G833E	EPHA7_uc003pof.3_Missense_Mutation_p.G828E|EPHA7_uc011eac.2_Missense_Mutation_p.G829E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	833	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGGTCTTTCTCCATAAGACAT	0.403000														8			22		0	0	0.001512	0	0
NOMO1	23420	broad.mit.edu	37	16	14947412	14947412	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14947412A>C	uc002dcv.3	+	7	890	c.824A>C	c.(823-825)gAa>gCa	p.E275A		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	275						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTCCAGAGAAGATGGCTCG	0.517000														123			106		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131861930	131861930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131861930C>T	uc003ytd.4	-	9	2586	c.2330G>A	c.(2329-2331)tGg>tAg	p.W777*	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	777					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCATTAATCCAACAGCAAGT	0.448000										HNSCC(32;0.087)				14			19		0	0	0.001216	0	0
WDR62	284403	broad.mit.edu	37	19	36591691	36591691	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:36591691C>T	uc002odd.2	+	22	2872	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	WDR62_uc002odc.2_Silent_p.F927F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	927					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCCTCCTTCCTGCCCCAGC	0.602000														77			22		0	0	0.002299	0	0
G2E3	55632	broad.mit.edu	37	14	31084663	31084663	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31084663C>T	uc001wqk.2	+	13	1936	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	G2E3_uc010tpf.1_Silent_p.I548I|G2E3_uc001wql.1_Silent_p.I106I	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	594	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGCAAAAATCCTTAGTGAGC	0.388000														61			46		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141274503	141274503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141274503C>T	uc002tvj.1	-	49	9076	c.8104G>A	c.(8104-8106)Gat>Aat	p.D2702N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2702	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2702N(2)		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)		TTCTGACCATCGCATATCCAG	0.328000										TSP Lung(27;0.18)				30			11		0	0	0.001368	0	0
VWCE	220001	broad.mit.edu	37	11	61058815	61058815	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61058815G>A	uc001nra.3	-	2	495	c.216C>T	c.(214-216)tcC>tcT	p.S72S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	72	EGF-like 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGCCGAAGGAGCAGAGGG	0.642000														10			13		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	8995964	8995964	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8995964G>A	uc002mkp.3	-	61	41481	c.41277C>T	c.(41275-41277)tcC>tcT	p.S13759S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S576S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13761				Missing (in Ref. 3; AAK74120).	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						TGCTGGTGGTGGACACAGAGC	0.532000														29			16		0	0	0.001882	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110457059G>A	uc003yne.3	+	37	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1654					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433000										HNSCC(38;0.096)				148			53		0	0	0.003610	0	0
CENPE	1062	broad.mit.edu	37	4	104029962	104029962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:104029962G>A	uc003hxb.1	-	47	8099	c.8009C>T	c.(8008-8010)cCa>cTa	p.P2670L	CENPE_uc003hxc.1_Missense_Mutation_p.P2549L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2670	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTACTTACCTGGACAAAGGCC	0.358000														5			5		0	0	0.000602	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379681	45379681	+	Missense_Mutation	SNP	C	T	T	rs151002444		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45379681C>T	uc002zdx.3	+	3	1045	c.380C>T	c.(379-381)cCg>cTg	p.P127L	AGPAT3_uc002zdv.3_Missense_Mutation_p.P40L|AGPAT3_uc002zdw.3_Missense_Mutation_p.P40L|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	40					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GCGCTCTGGCCGGTCAGCAAG	0.647000														42			9		0	0	0.004482	0	0
SNRPN	6638	broad.mit.edu	37	15	25472064	25472064	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25472064G>A	uc001yzw.1	+	7		c.1107_splice	c.e7-1		SNORD115-15_uc001yzq.1_Intron|SNORD115-31_uc001yzz.1_5'Flank|SNORD115-32_uc001zaa.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-15 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGTCTCCCCAGATGGTGACCC	0.607000									Prader-Willi syndrome					3			4		0	0	0.000248	0	0
FGD3	89846	broad.mit.edu	37	9	95776252	95776252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:95776252G>A	uc004asz.2	+	8	1682	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D	FGD3_uc004asw.2_Missense_Mutation_p.G385D|FGD3_uc004asx.2_Missense_Mutation_p.G385D|FGD3_uc004ata.3_Missense_Mutation_p.G188D|FGD3_uc011luc.1_5'Flank	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	385	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCAAGAACGGCACCCCCCAG	0.617000														56			21		0	0	0.002299	0	0
ADAM28	10863	broad.mit.edu	37	8	24199169	24199169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24199169G>A	uc003xdy.3	+	15	1812	c.1729G>A	c.(1729-1731)Gga>Aga	p.G577R	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G264R	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	577	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCCCTGGAAAGGACGGATAGT	0.428000														24			41		0	0	0.001951	0	0
C1orf150	148823	broad.mit.edu	37	1	247737590	247737590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247737590G>A	uc001idf.3	+	4	461	c.314G>A	c.(313-315)aGg>aAg	p.R105K	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	105										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTTAGAGAAAGGTCAGAGACA	0.438000														35			12		0	0	0.000978	0	0
PRDM1	639	broad.mit.edu	37	6	106553680	106553680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:106553680C>T	uc003prd.2	+	4	1879	c.1645C>T	c.(1645-1647)Ctc>Ttc	p.L549F	PRDM1_uc003pre.3_Missense_Mutation_p.L415F	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	549					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGCCATGAATCTCATTAAAAA	0.552000			"""D, N, Mis, F, S"""		DLBCL									4			21		0	0	0.001882	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														14			27		0	0	0.007291	0	0
DNAH8	1769	broad.mit.edu	37	6	38875791	38875791	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:38875791G>A	uc021yzh.1	+	63	9517	c.9408G>A	c.(9406-9408)gtG>gtA	p.V3136V	DNAH8_uc003ooe.2_Silent_p.V2919V|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTCAGTGATGAAGAGGG	0.393000														34			30		0	0	0.002096	0	0
ABCA1	19	broad.mit.edu	37	9	107555133	107555133	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107555133C>T	uc004bcl.3	-	41	6095	c.5691G>A	c.(5689-5691)cgG>cgA	p.R1897R		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1897			R -> W (in HDLD2; uncertain pathogenicity).		Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.R1897L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTCTTTCCCGCCTCACAT	0.398000														28			13		0	0	0.001368	0	0
NOD2	64127	broad.mit.edu	37	16	50753905	50753905	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:50753905C>T	uc002egm.1	+	6	2805	c.2700C>T	c.(2698-2700)tcC>tcT	p.S900S	NOD2_uc010cbl.1_Silent_p.S650S|NOD2_uc010cbm.1_Intron|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Silent_p.S38S|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	900					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAACACCTCCTTGCAGTTCC	0.587000														18			17		0	0	0.007413	0	0
MYH2	4620	broad.mit.edu	37	17	10435093	10435093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10435093C>T	uc010coi.3	-	21	2682	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E852K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	852					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTCCTTCTCAGTTTCTGCA	0.428000														45			39		0	0	0.001951	0	0
KEAP1	9817	broad.mit.edu	37	19	10610578	10610578	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10610578G>A	uc002moq.1	-	1	288	c.132C>T	c.(130-132)ccC>ccT	p.P44P	KEAP1_uc002mor.1_Silent_p.P44P	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGCTGGGAGGGCGTCACCT	0.642000														49			44		0	0	0.003610	0	0
UTS2R	2837	broad.mit.edu	37	17	80332317	80332317	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80332317G>A	uc010wvl.2	+	0	117	c.117G>A	c.(115-117)ccG>ccA	p.P39P		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	39						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGGCCAGCCCGACCGAGCCCA	0.716000														8			8		0	0	0.000673	0	0
DPP6	1804	broad.mit.edu	37	7	154684121	154684121	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:154684121C>T	uc003wlk.3	+	25	2658	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	DPP6_uc003wli.3_Silent_p.F779F|DPP6_uc003wlm.3_Silent_p.F781F|DPP6_uc011kvq.2_Silent_p.F736F	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	843					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCAACTTCTTCGTGGAATGCT	0.512000														110			49		0	0	0.003610	0	0
MAPT	4137	broad.mit.edu	37	17	44067303	44067303	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:44067303C>T	uc002ijr.4	+	7	1564	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	MAPT_uc010dau.3_Silent_p.H414H|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	414				H -> L (in Ref. 5; AAC04277).	cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCCCCAAACACCCCACTCCTG	0.468000														182			127		0	0	0.003610	0	0
C20orf197	284756	broad.mit.edu	37	20	58645808	58645808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:58645808G>A	uc002ybj.1	+	3	532	c.226G>A	c.(226-228)Gga>Aga	p.G76R		NM_173644	NP_775915	Q8N268	CT197_HUMAN	Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.	76										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GAAGATAGAGGGACTTCTGCA	0.468000														33			26		0	0	0.006320	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013896	156013896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156013896G>A	uc001fna.3	-	5	1043	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	UBQLN4_uc010pgx.2_Missense_Mutation_p.S320F	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	340						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGGGCCTGGGAGGTGGGGGG	0.687000														18			4		0	0	0.000248	0	0
CPD	1362	broad.mit.edu	37	17	28750597	28750597	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28750597C>T	uc002hfb.2	+	5	1788	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	CPD_uc010wbo.2_Silent_p.L330L|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	577	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGTTGAACCTCATAGAATACC	0.378000														30			11		0	0	0.000978	0	0
OLFM2	93145	broad.mit.edu	37	19	9968153	9968153	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9968153C>T	uc002mmp.3	-	3	394	c.366G>A	c.(364-366)ctG>ctA	p.L122L		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	122						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCTGTCCTTCAGCTCCTGTG	0.557000														24			9		0	0	0.006214	0	0
LMOD3	56203	broad.mit.edu	37	3	69168514	69168514	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:69168514A>G	uc003dns.2	-	1	1201	c.992T>C	c.(991-993)aTg>aCg	p.M331T	LMOD3_uc003dnt.2_Missense_Mutation_p.M331T	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	331						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAGACACCTCATGATGGCCAC	0.453000														208			64		0	0	0.003610	0	0
BTG3	10950	broad.mit.edu	37	21	18966434	18966434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:18966434G>A	uc002ykl.3	-	5	1128	c.868C>T	c.(868-870)Cct>Tct	p.P290S	BTG3_uc002ykk.3_Missense_Mutation_p.P246S	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	246					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AACATGTGAGGATTAATCCAG	0.378000														24			11		0	0	0.000978	0	0
ACAP3	116983	broad.mit.edu	37	1	1231242	1231243	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1231242_1231243GG>AA	uc001aeb.2	-	17	1652_1653	c.1578_1579CC>TT	c.(1576-1581)gccctg>gcTTtg	p.526_527AL>AL	ACAP3_uc001ady.2_Silent_p.256_257AL>AL|ACAP3_uc001aea.2_Silent_p.484_485AL>AL	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	526					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCCTCCAGGGCTGGTGCCA	0.649000														9			13		0	0	0.004672	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432633	104432633	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:104432633G>A	uc004bbp.2	-	2	2662	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	GRIN3A_uc004bbq.1_Silent_p.I687I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	687					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)	AGACGGCAGTGATGTGCAGAG	0.498000														45			35		0	0	0.006230	0	0
ARNT2	9915	broad.mit.edu	37	15	80867401	80867401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:80867401C>T	uc002bfr.3	+	13	1629	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	ARNT2_uc010unm.2_Missense_Mutation_p.S477F|ARNT2_uc002bfs.3_Missense_Mutation_p.S477F	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	488					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAATCTTCTCCCAGGAAAGA	0.473000														135			34		0	0	0.004289	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595183	7595183	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7595183C>T	uc002mgo.3	+	11	1512	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	MCOLN1_uc002mgp.3_Silent_p.L422L	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	457					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCGCTCACTCTCCATGGTGT	0.647000														121			34		0	0	0.004878	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435745	104435745	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:104435745G>A	uc003kok.3	+	0		c.571G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TGACTTCATCGAAACCATTGG	0.413000														3			4		0	0	0.000248	0	0
ZNF812	729648	broad.mit.edu	37	19	9801144	9801144	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9801144G>A	uc021uop.1	-	5	1681	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	ZNF812_uc010xkx.2_Silent_p.S241S	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAGGGTTGAGGATCCATTGA	0.418000														19			33		0	0	0.002096	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231754	142231754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142231754G>A	uc003vyh.2	-	1	261	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGTCTTGTCGATACCAGAAC	0.488000														176			65		0	0	0.003610	0	0
MYO1E	4643	broad.mit.edu	37	15	59497637	59497637	+	Silent	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59497637A>G	uc002aga.3	-	14	1950	c.1578T>C	c.(1576-1578)ctT>ctC	p.L526L	LDHAL6B_uc002agb.3_5'Flank	NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	526	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATCCATAAAAAGCACATCCC	0.378000														146			30		0	0	0.004289	0	0
OR1D2	4991	broad.mit.edu	37	17	2995520	2995520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:2995520C>T	uc010vrb.2	-	0	771	c.771G>A	c.(769-771)atG>atA	p.M257I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	257					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAGGTATACCATACAAAGTG	0.488000														54			14		0	0	0.003163	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422341	70422341	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:70422341G>A	uc002eyw.2	-	2	2750	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ST3GAL2_uc002eyx.2_Silent_p.F214F	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 2 (ST3GAL2), mRNA.	214					amino sugar metabolic process	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GCACCAGCACGAAGCTGACGT	0.592000														73			76		0	0	0.003610	0	0
RRAD	6236	broad.mit.edu	37	16	66957429	66957429	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66957429G>A	uc002eqn.2	-	3	791	c.639C>T	c.(637-639)gtC>gtT	p.V213V	RRAD_uc002eqo.2_Silent_p.V213V	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	213					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CATCCACCGAGACCTCACGAG	0.632000														44			16		0	0	0.004007	0	0
TIMM44	10469	broad.mit.edu	37	19	7998811	7998811	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7998811G>A	uc002miz.3	-	5	793	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	207					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTCTCTTCCGGAGTCGCTGGG	0.617000														40			12		0	0	0.001368	0	0
OR4A16	81327	broad.mit.edu	37	11	55110799	55110799	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55110799C>T	uc010rie.2	+	0	123	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGGAAACCTCCTCATTTGGG	0.433000														32			37		0	0	0.006999	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777443	95777443	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:95777443C>T	uc003ygx.2	+	8	1027	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	301						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ACATATTTTCCCTCTTTCTGG	0.294000														181			209		0	0	0.003610	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:19378093G>A	uc010tkp.2	+	0	500	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000														402			28		0	0	0.003610	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463648	6463648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6463648G>A	uc001qnw.3	-	6	1757	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	SCNN1A_uc001qnv.3_Missense_Mutation_p.P139L|SCNN1A_uc001qnx.3_Missense_Mutation_p.P439L|SCNN1A_uc010sfb.2_Missense_Mutation_p.P462L	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	439					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CACGTTCTGGGGCCGCGGATA	0.582000														31			9		0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92565004	92565004	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:92565004C>A	uc001pdj.4	+	12	9715	c.9698C>A	c.(9697-9699)cCc>cAc	p.P3233H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3233	Cadherin 29.				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)				AATGACAACCCCCCTGTGTTT	0.557000										TCGA Ovarian(4;0.039)				314			9		0.000274275	0.000430906	0.004482	1	0
ZNF786	136051	broad.mit.edu	37	7	148767554	148767554	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148767554G>A	uc003wfh.2	-	3	2447	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	ZNF786_uc011kuk.1_Silent_p.L733L|ZNF786_uc003wfi.2_Silent_p.L684L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAGTTGGCTGAGCCTTTTCT	0.483000														36			450		0	0	0.003610	0	0
CTSO	1519	broad.mit.edu	37	4	156858553	156858553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156858553G>A	uc003ipg.3	-	4	684	c.635C>T	c.(634-636)tCt>tTt	p.S212F		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	212					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TGAAAATCCAGAATGTGAACC	0.294000														21			10		0	0	0.000978	0	0
TRIM51	84767	broad.mit.edu	37	11	55653307	55653307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55653307G>A	uc010rip.2	+	1	495	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	135						intracellular	zinc ion binding										GGCTGCTGAGGAACGCCGGGT	0.478000														16			20		0	0	0.002780	0	0
COL5A3	50509	broad.mit.edu	37	19	10092762	10092762	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10092762G>T	uc002mmq.1	-	31	2525	c.2439C>A	c.(2437-2439)ccC>ccA	p.P813P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	813	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTATGGGTCCCAGGG	0.542000														38			13		9.31168e-06	1.46844e-05	0.001855	1	0
PCDH8	5100	broad.mit.edu	37	13	53418792	53418792	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:53418792C>A	uc001vhi.3	-	2	3320	c.3116G>T	c.(3115-3117)gGg>gTg	p.G1039V	PCDH8_uc001vhj.3_Missense_Mutation_p.G942V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	1039					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGGGAGCCTCCCTGGACGGGG	0.582000														46			29		1.06647e-15	1.69545e-15	0.003755	1	0
TMEM174	134288	broad.mit.edu	37	5	72469221	72469221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:72469221G>A	uc010izc.3	+	0	199	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	51						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGGACTGGTGGGGATCACATT	0.572000														35			95		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181759674	181759674	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181759674C>T	uc009wxt.3	+	43	6075	c.5880C>T	c.(5878-5880)ttC>ttT	p.F1960F	CACNA1E_uc001gow.3_Silent_p.F1960F|CACNA1E_uc009wxs.3_Silent_p.F1941F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1960					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGGACAGTTCCAAGAACGGC	0.473000														55			9		0	0	0.006214	0	0
ARMC4	55130	broad.mit.edu	37	10	28284023	28284023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:28284023C>T	uc009xky.3	-	1	147	c.49G>A	c.(49-51)Gga>Aga	p.G17R	ARMC4_uc001itz.3_Missense_Mutation_p.G17R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	17							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTCCAGTTCCATGTCCGGCA	0.468000														17			6		0	0	0.001984	0	0
C17orf75	64149	broad.mit.edu	37	17	30658842	30658842	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:30658842G>A	uc002hhg.3	-	9	1201	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	377					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACATTTTTGGCTTCAGGCA	0.313000														57			15		0	0	0.004007	0	0
CHD4	1108	broad.mit.edu	37	12	6700950	6700950	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6700950G>A	uc001qpo.3	-	20	3296	c.3132C>T	c.(3130-3132)gcC>gcT	p.A1044A	CHD4_uc001qpn.3_Silent_p.A1037A|CHD4_uc001qpp.3_Silent_p.A1041A	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1044					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTCTGATTAGGGCACTGCCAT	0.438000														21			8		0	0	0.003080	0	0
POU3F4	5456	broad.mit.edu	37	X	82764188	82764188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:82764188G>A	uc004eeg.2	+	0	920	c.856G>A	c.(856-858)Gag>Aag	p.E286K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	286					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GACCTCCATCGAGGTGAGTGT	0.607000														3			20		0	0	0.001523	0	0
LMAN1	3998	broad.mit.edu	37	18	57021803	57021803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:57021803G>A	uc002lhz.3	-	3	519	c.487C>T	c.(487-489)Cct>Tct	p.P163S	LMAN1_uc010xek.1_Missense_Mutation_p.P163S	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	163	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACTATAGCAGGATTATTTTTC	0.284000														50			8		0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11687804	11687804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11687804G>A	uc002gne.3	+	40	8077	c.8009G>A	c.(8008-8010)gGa>gAa	p.G2670E	DNAH9_uc010coo.3_Missense_Mutation_p.G1964E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2670	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCCACAGGAATCAAATTC	0.517000														56			66		0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14613992	14613992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:14613992C>T	uc003ssz.3	-	18	1805	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	DGKB_uc011jxt.2_Missense_Mutation_p.E521K|DGKB_uc003sta.3_Missense_Mutation_p.E540K|DGKB_uc011jxu.2_Missense_Mutation_p.E539K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	540	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCTCACCTTCGTAACCTAGT	0.323000														115			22		0	0	0.002299	0	0
FCRL4	83417	broad.mit.edu	37	1	157556094	157556094	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157556094C>T	uc001fqw.3	-	5	1135	c.999G>A	c.(997-999)ggG>ggA	p.G333G	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	333	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAGTTTTCCTCCCCAGACTCT	0.582000														36			51		0	0	0.003610	0	0
OR1L8	138881	broad.mit.edu	37	9	125330481	125330481	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125330481G>A	uc004bmp.1	-	0	276	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CATAGGAGATGGTCTTCTTTT	0.453000														47			26		0	0	0.006320	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520449	33520449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:33520449G>A	uc002hjd.2	-	0	964	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	293	DUF6 2.					integral to membrane											CAGTATAAGGGCCACAACCAC	0.577000														110			83		0	0	0.003610	0	0
LINC00477	144360	broad.mit.edu	37	12	24736652	24736652	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24736652G>A	uc001rgb.1	-	0		c.451C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		TGCTCAGTGGGGAAGGAGGGT	0.567000														72			15		0	0	0.004990	0	0
COL17A1	1308	broad.mit.edu	37	10	105815715	105815715	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105815715C>T	uc001kxr.3	-	17	1681	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	COL17A1_uc010qqv.1_Silent_p.R488R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	504	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCTCCTGATCCTCTCCAGCT	0.597000														81			25		0	0	0.006320	0	0
FAM83A	84985	broad.mit.edu	37	8	124206276	124206276	+	Missense_Mutation	SNP	C	T	T	rs149619029		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124206276C>T	uc003ypv.3	+	3	2675	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	FAM83A_uc003ypw.3_Missense_Mutation_p.R221W|FAM83A_uc003ypx.3_Missense_Mutation_p.R221W|FAM83A_uc003ypy.3_Missense_Mutation_p.R165W|FAM83A_uc003ypz.3_Missense_Mutation_p.R221W	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	221										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CATTTCCATCCGGAGTGTGGA	0.453000														26			16		0	0	0.004990	0	0
TDRD10	126668	broad.mit.edu	37	1	154516548	154516548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154516548C>T	uc009wow.3	+	8	1451	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	TDRD10_uc001ffd.3_Missense_Mutation_p.P205S|TDRD10_uc001ffe.3_Missense_Mutation_p.P126S	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	205							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGTATCGTCCCGAAGACCCC	0.627000														63			36		0	0	0.004289	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819474	31819474	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:31819474C>T	uc001zfq.3	-	4	783	c.690G>A	c.(688-690)cgG>cgA	p.R230R	OTUD7A_uc001zfr.3_Silent_p.R230R	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	230	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGAGAGCTTTCCGTAACACCA	0.567000														80			80		0	0	0.003610	0	0
CTSS	1520	broad.mit.edu	37	1	150720314	150720314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150720314C>T	uc001evn.3	-	6	1096	c.835G>A	c.(835-837)Ggt>Agt	p.G279S	CTSS_uc010pcj.2_Missense_Mutation_p.G229S	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	279					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACAAGTACACCATGATTCACA	0.348000														39			71		0	0	0.003610	0	0
OR14J1	442191	broad.mit.edu	37	6	29274755	29274755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29274755C>T	uc011dln.2	+	0	289	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCAGTGCATTCTTCAGGTTTT	0.458000														68			175		0	0	0.003610	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508985	26508985	+	Silent	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26508985T>A	uc001bln.4	+	5	592	c.534T>A	c.(532-534)gcT>gcA	p.A178A	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.A178A|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	178					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACGTGGCTGGGATCTGCC	0.642000														17			10		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858517	9858517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9858517C>T	uc010uym.2	-	13	3194	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	GRIN2A_uc002czo.4_Missense_Mutation_p.E962K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E805K|GRIN2A_uc002czr.4_Missense_Mutation_p.E962K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	962					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	p.E962K(4)		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)	GTTTGGAGTTCGTTCATGTTG	0.438000														50			50		0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693226	187693226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187693226C>T	uc002upu.1	-	8	1427	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	463					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTGTATTTTCATAGGCATCT	0.284000														24			9		0	0	0.000978	0	0
SERTM1	400120	broad.mit.edu	37	13	37269294	37269294	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:37269294C>T	uc001uvt.4	+	1	525	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	SERTM1_uc021rii.1_Silent_p.L27L	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	27						integral to membrane											TCCCACATCCCTGTCCACGTC	0.473000														60			46		0	0	0.003610	0	0
GOT1	2805	broad.mit.edu	37	10	101163312	101163312	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101163312G>A	uc001kpr.3	-	6	1081	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	291					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAATCCGCACGATCTTCTCCA	0.537000														70			29		0	0	0.001786	0	0
PAN2	9924	broad.mit.edu	37	12	56722378	56722378	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56722378G>A	uc001skx.3	-	2	707	c.330C>T	c.(328-330)tcC>tcT	p.S110S	PAN2_uc001sky.3_Silent_p.S110S|PAN2_uc001skz.3_Silent_p.S110S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	110					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACTTGAAAGGATGAGTAGC	0.507000														164			10		0	0	0.001368	0	0
STAB1	23166	broad.mit.edu	37	3	52542337	52542337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52542337C>T	uc003dej.3	+	20	2271	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	STAB1_uc003dei.1_Missense_Mutation_p.P733S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	733	EGF-like 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P733L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACGCAGTGTCCTGGGGGCTT	0.572000														64			17		0	0	0.007413	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004023	75004023	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:75004023G>A	uc004ecj.2	-	0	1057	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	288	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTTCCAGGGCCTTATTAT	0.473000														33			17		0	0	0.004990	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646600	19646600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:19646600G>A	uc002gwk.3	-	1	352	c.89C>T	c.(88-90)cCt>cTt	p.P30L	ALDH3A1_uc010cqu.3_Silent_p.T113T|ALDH3A1_uc010vzd.2_Silent_p.T113T|ALDH3A1_uc002gwj.3_Silent_p.T113T|ALDH3A1_uc010cqv.3_Silent_p.T113T|ALDH3A1_uc002gwl.1_Silent_p.T40T			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	318					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGTAGTTCCAGGTGCCAATGA	0.657000														20			18		0	0	0.007413	0	0
PARP8	79668	broad.mit.edu	37	5	50055551	50055551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:50055551C>T	uc003jon.4	+	4	441	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Missense_Mutation_p.H87Y|PARP8_uc003jop.3_Missense_Mutation_p.H87Y	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	87						intracellular	NAD+ ADP-ribosyltransferase activity	p.F86F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATTTTTCATAGAATAGC	0.254000														46			13		0	0	0.004990	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343724	134343724	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134343724C>A	uc003lag.3	+	3	656	c.570C>A	c.(568-570)atC>atA	p.I190I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	190					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATGTACATCTTCGCTATCT	0.557000														42			28		1.06801e-11	1.69318e-11	0.001786	1	0
MYO1A	4640	broad.mit.edu	37	12	57423650	57423650	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57423650G>A	uc001smw.4	-	24	2838	c.2598C>T	c.(2596-2598)ccC>ccT	p.P866P	MYO1A_uc010sqz.2_Silent_p.P704P|MYO1A_uc009zpd.3_Silent_p.P866P	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	866					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAATGGAATGGGGACACTGA	0.622000														161			15		0	0	0.004007	0	0
EGFR	1956	broad.mit.edu	37	7	55269037	55269037	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:55269037C>T	uc003tqk.3	+	24	3349	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	EGFR_uc022adm.1_Silent_p.L1035L|EGFR_uc010kzg.2_Silent_p.L990L|EGFR_uc022adn.1_Silent_p.L990L|EGFR_uc011kco.2_Silent_p.L982L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1035	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACTCCCCTCCTGAGCTCTCT	0.488000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				83			33		0	0	0.002445	0	0
GKAP1	80318	broad.mit.edu	37	9	86354623	86354623	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:86354623G>A	uc004amy.3	-	12	1586	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	GKAP1_uc004amz.3_Nonsense_Mutation_p.Q313*	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	364					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CACCTACACTGGTCGGATTCA	0.333000														33			12		0	0	0.000978	0	0
COG2	22796	broad.mit.edu	37	1	230810853	230810853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:230810853C>T	uc001htw.3	+	8	1160	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	COG2_uc001htx.3_Missense_Mutation_p.P337S|COG2_uc010pwc.2_Missense_Mutation_p.P210S	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	337					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCTGGGAATCCCGATGCATT	0.413000														79			29		0	0	0.007291	0	0
NBEA	26960	broad.mit.edu	37	13	35756549	35756549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:35756549C>T	uc021rid.1	+	28	5249	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L	NBEA_uc021ric.1_Missense_Mutation_p.S1569L|NBEA_uc010abi.3_Missense_Mutation_p.S260L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1572						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACTTCATTTCGGTTCTGATG	0.373000														42			20		0	0	0.007413	0	0
OR2G3	81469	broad.mit.edu	37	1	247769401	247769401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247769401C>T	uc010pyz.2	+	0	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGCAACCATAGGCTGGA	0.463000														65			16		0	0	0.006122	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357705	63357705	+	Missense_Mutation	SNP	G	A	A	rs141685584		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63357705G>A	uc001nxh.2	-	2	677	c.254C>T	c.(253-255)tCg>tTg	p.S85L	PLA2G16_uc001nxi.2_Missense_Mutation_p.S97L|PLA2G16_uc009you.1_Missense_Mutation_p.S85L	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	85					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GGGCAGCGGCGAGTACTTGTC	0.547000														25			43		0	0	0.002852	0	0
TTN	7273	broad.mit.edu	37	2	179597596	179597596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179597596C>T	uc021vsy.1	-	51	12800	c.12575G>A	c.(12574-12576)gGa>gAa	p.G4192E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G853E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5119							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)			GTCTTTGCTTCCCACGGAATT	0.428000														17			8		0	0	0.003080	0	0
PRB4	5545	broad.mit.edu	37	12	11461663	11461663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11461663C>T	uc001qzf.1	-	2	288	c.254G>A	c.(253-255)gGa>gAa	p.G85E	PRB4_uc001qzt.3_Missense_Mutation_p.G85E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	85	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.612000										HNSCC(22;0.051)				302			37		0	0	0.003610	0	0
KIF17	57576	broad.mit.edu	37	1	21009190	21009190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21009190C>T	uc001bdr.4	-	10	2537	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	KIF17_uc001bdp.4_Missense_Mutation_p.E85K|KIF17_uc009vpx.3_Missense_Mutation_p.E177K|KIF17_uc001bds.4_Missense_Mutation_p.E807K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	807					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCCGCACTTCCTCCTGGATG	0.637000														31			13		0	0	0.002450	0	0
OR1J2	26740	broad.mit.edu	37	9	125273186	125273186	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125273186C>T	uc011lyv.2	+	0	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	OR1J2_uc004bmj.2_Silent_p.L36L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGGCATGTACCTGACCACGGT	0.597000														106			31		0	0	0.002096	0	0
SMCR8	140775	broad.mit.edu	37	17	18220690	18220690	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18220690C>T	uc002gsy.4	+	0	2097	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	529										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGCCCTCATCCCTGATGACT	0.537000														49			63		0	0	0.003610	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978411	6978411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:6978411C>T	uc002gek.3	-	8	1216	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CLEC10A_uc002gej.3_Missense_Mutation_p.E281K|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	305	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGGCCAGCCTCGCAGACCCAG	0.647000														62			17		0	0	0.006122	0	0
KLK5	25818	broad.mit.edu	37	19	51452135	51452135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51452135C>T	uc002pue.3	-	4	790	c.572G>A	c.(571-573)gGg>gAg	p.G191E	KLK5_uc002puf.3_Missense_Mutation_p.G191E|KLK5_uc002pug.3_Missense_Mutation_p.G191E	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	191	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTTGGTTGTCCCCCAGCCAGA	0.507000														31			14		0	0	0.003163	0	0
OR1J1	347168	broad.mit.edu	37	9	125239572	125239572	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125239572G>A	uc011lyu.2	-	0	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGATGCACAGGAATGGAAGC	0.502000														39			22		0	0	0.006320	0	0
LDB2	9079	broad.mit.edu	37	4	16590354	16590354	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:16590354C>T	uc003goz.3	-	3	826	c.510G>A	c.(508-510)ccG>ccA	p.P170P	LDB2_uc003gpa.3_Silent_p.P170P|LDB2_uc011bxh.2_Silent_p.P170P|LDB2_uc003gpb.3_Silent_p.P170P|LDB2_uc010iee.3_Silent_p.P170P|LDB2_uc011bxi.2_Silent_p.P46P	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	170							LIM domain binding|transcription cofactor activity	p.P170Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGATGCTTCTCGGGACTAACT	0.388000														27			19		0	0	0.001882	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963608	73963608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73963608C>T	uc004eby.3	-	2	1401	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	262					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E262D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATAAAAGTCTCGAAGTAACCC	0.393000														37			31		0	0	0.002096	0	0
CTCF	10664	broad.mit.edu	37	16	67670719	67670719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67670719C>T	uc002etl.3	+	10	2408	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	CTCF_uc010cek.3_Missense_Mutation_p.P327L|CTCF_uc002etm.1_Missense_Mutation_p.P144L	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	655					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGAGGACGACCCCCTGGCAGA	0.602000														123			39		0	0	0.003610	0	0
OR13D1	286365	broad.mit.edu	37	9	107456939	107456939	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107456939C>T	uc011lvs.2	+	0	237	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCCTCATTATCATCACCATCT	0.453000														80			59		0	0	0.003610	0	0
NELL1	4745	broad.mit.edu	37	11	20948935	20948935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:20948935C>T	uc009yid.3	+	8	1078	c.925C>T	c.(925-927)Cga>Tga	p.R309*	NELL1_uc010rdp.2_Nonsense_Mutation_p.R41*|NELL1_uc001mqe.3_Nonsense_Mutation_p.R281*|NELL1_uc001mqf.3_Nonsense_Mutation_p.R281*|NELL1_uc010rdo.2_Nonsense_Mutation_p.R224*	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	281	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTGCTCTATCGAGATCAAGA	0.398000														4			24		0	0	0.006320	0	0
DNAH1	25981	broad.mit.edu	37	3	52384040	52384040	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52384040C>T	uc011bef.2	+	14	2823	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	DNAH1_uc003ddt.1_Silent_p.I854I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	854	Stem (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)		GCCGCAAGATCTATGAGAAGC	0.632000														28			4		0	0	0.001984	0	0
TTC37	9652	broad.mit.edu	37	5	94818193	94818193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:94818193G>A	uc003klb.3	-	38	4493	c.4196C>T	c.(4195-4197)tCt>tTt	p.S1399F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1399							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGCTGGAACAGAGGTTGAGTT	0.393000														42			71		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82538248	82538248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82538248C>T	uc003uhx.2	-	7	13671	c.13382G>A	c.(13381-13383)cGa>cAa	p.R4461Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4461Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4392	PDZ.				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						CGGCAGTTTTCGGTCCAGACC	0.418000														6			101		0	0	0.003610	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282867	105282867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:105282867G>A	uc001tla.3	-	3	991	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	275						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAGAAGTATGGAATGATCAAG	0.388000														13			41		0	0	0.006999	0	0
DZIP1L	199221	broad.mit.edu	37	3	137781670	137781670	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137781670G>A	uc003erq.3	-	15	2655	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	764						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACCAGGCAGGGACCCTGGGTT	0.597000														251			90		0	0	0.003610	0	0
DISC1	27185	broad.mit.edu	37	1	232162271	232162271	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:232162271A>C	uc010pxh.2	+	12	2547	c.2494A>C	c.(2494-2496)Atc>Ctc	p.I832L	DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pxn.1_Missense_Mutation_p.I445L|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.I423L|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.I678L|DISC1_uc001huz.3_Missense_Mutation_p.I800L|DISC1_uc001hva.3_Missense_Mutation_p.I778L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	800	Interaction with ATF4 and ATF5.|Interaction with NDEL1.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACACAGCAATCCACAGTCA	0.378000														6			17		0	0	0.007413	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478590	85478590	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85478590G>A	uc002blg.3	+	14	1624	c.1422G>A	c.(1420-1422)ttG>ttA	p.L474L	SLC28A1_uc010bnb.3_Silent_p.L474L|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.L474L|SLC28A1_uc010upg.1_Silent_p.L474L	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	474					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)			TAGCCTTCTTGATGGGTGTGG	0.592000														40			25		0	0	0.003954	0	0
CELSR1	9620	broad.mit.edu	37	22	46932281	46932282	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46932281_46932282GG>AA	uc003bhw.1	-	0	786_787	c.786_787CC>TT	c.(784-789)accctc>acTTtc	p.L263F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	263	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGAGGATGAGGGTGCCCGCCG	0.663000														21			56		0	0	0.004672	0	0
OR10G7	390265	broad.mit.edu	37	11	123909189	123909189	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:123909189G>A	uc001pzq.1	-	0	520	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	174					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)		AAGTAGTGCTGGATCTGGTTG	0.557000														34			53		0	0	0.003610	0	0
HIRA	7290	broad.mit.edu	37	22	19348765	19348765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:19348765G>A	uc002zpf.1	-	16	2300	c.2080C>T	c.(2080-2082)Ctc>Ttc	p.L694F	HIRA_uc011agx.1_Missense_Mutation_p.L560F|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Missense_Mutation_p.L650F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	694	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTTACCTGGAGGGTGAATGCT	0.547000														5			47		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61835477	61835477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61835477G>A	uc001jky.3	-	36	5500	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1721	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAGAGGGGAAATAGATCC	0.408000														48			10		0	0	0.001368	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114199	75114199	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75114199C>T	uc002ayt.1	+	9	1091	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	LMAN1L_uc010bke.1_Silent_p.S351S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	363						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATTCCATCCACCCCAGGGA	0.612000														60			46		0	0	0.003610	0	0
MICAL3	57553	broad.mit.edu	37	22	18389393	18389393	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:18389393G>A	uc002zng.4	-	1	539	c.186C>T	c.(184-186)gcC>gcT	p.A62A	MICAL3_uc011agl.2_Silent_p.A62A|MICAL3_uc002znh.2_Silent_p.A62A|MICAL3_uc002znk.1_Silent_p.A62A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Silent_p.A62A|MICAL3_uc011agm.1_Silent_p.A62A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	62						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGAGGGCTTTGGCTTTCCAGT	0.493000														18			180		0	0	0.003610	0	0
PCSK9	255738	broad.mit.edu	37	1	55525299	55525299	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55525299C>T	uc001cyf.2	+	9	2006	c.1644C>T	c.(1642-1644)acC>acT	p.T548T	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	548					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCATGGGGACCCGTGTCCACT	0.647000														55			42		0	0	0.001951	0	0
LAMA1	284217	broad.mit.edu	37	18	6983119	6983119	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6983119C>T	uc002knm.3	-	39	5869	c.5775G>A	c.(5773-5775)agG>agA	p.R1925R	LAMA1_uc010wzj.2_Silent_p.R1401R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1925	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.H1924N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTCACAGTCCTGTGAGCAT	0.512000														9			36		0	0	0.001951	0	0
NWD1	284434	broad.mit.edu	37	19	16918626	16918626	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16918626C>T	uc002neu.4	+	17	4388	c.3966C>T	c.(3964-3966)gtC>gtT	p.V1322V	NWD1_uc002net.4_Silent_p.V1187V|NWD1_uc002nev.4_Silent_p.V1116V|NWD1_uc021uqg.1_Silent_p.V1187V	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1322							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAACATCGTCCTGGTGCTGG	0.607000														49			21		0	0	0.001882	0	0
MS4A14	84689	broad.mit.edu	37	11	60184081	60184081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60184081C>T	uc001npj.3	+	4	2205	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	MS4A14_uc001npi.3_Missense_Mutation_p.S435F|MS4A14_uc001npn.3_Missense_Mutation_p.S285F|MS4A14_uc001npk.3_Missense_Mutation_p.S530F|MS4A14_uc001npl.3_Missense_Mutation_p.S285F|MS4A14_uc001npm.3_Missense_Mutation_p.S285F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	547	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAGGCACTCCGTAGATAAG	0.453000														20			27		0	0	0.001512	0	0
MYO16	23026	broad.mit.edu	37	13	109707928	109707928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:109707928C>T	uc010agk.2	+	26	3942	c.3320C>T	c.(3319-3321)tCg>tTg	p.S1107L	MYO16_uc001vqt.1_Missense_Mutation_p.S1085L|MYO16_uc001vqu.1_Missense_Mutation_p.S885L|MYO16_uc010tjh.1_Missense_Mutation_p.S597L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1085	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.A1107V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTTTCCTTCTCGGATTTCCTG	0.433000														21			28		0	0	0.002096	0	0
EPRS	2058	broad.mit.edu	37	1	220192380	220192380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220192380C>T	uc001hly.1	-	10	1661	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.R215K|EPRS_uc001hlz.1_Missense_Mutation_p.R464K|EPRS_uc009xdt.1_Missense_Mutation_p.R187K	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	464	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGTCATCCCTCTTCTCAGTAC	0.393000														76			19		0	0	0.002299	0	0
C1S	716	broad.mit.edu	37	12	7177477	7177477	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7177477T>A	uc001qsj.3	+	14	2308	c.1589T>A	c.(1588-1590)aTt>aAt	p.I530N	C1S_uc001qsk.3_Missense_Mutation_p.I530N|C1S_uc001qsl.3_Missense_Mutation_p.I530N|C1S_uc009zfr.3_Missense_Mutation_p.I363N|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	530	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GATAATGACATTGCACTGGTG	0.517000														7			21		0	0	0.001882	0	0
OR4F5	79501	broad.mit.edu	37	1	69517	69517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:69517G>A	uc001aal.1	+	0	427	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_001005484	NP_001005484	Q8NH21	OR4F5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 5 (OR4F5), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTCACATGGGGAATTGGCTT	0.473000														125			40		0	0	0.003610	0	0
CUL2	8453	broad.mit.edu	37	10	35328007	35328007	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:35328007G>A	uc010qer.2	-	8	879	c.775C>T	c.(775-777)Cta>Tta	p.L259L	CUL2_uc021ppa.1_Silent_p.L253L|CUL2_uc009xma.3_Silent_p.L109L|CUL2_uc001ixv.3_Silent_p.L240L|CUL2_uc001ixw.3_Silent_p.L240L|CUL2_uc010qes.2_Silent_p.L177L	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	240					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AATCTACCTAGAACCTATAAA	0.318000														12			14		0	0	0.002450	0	0
BTAF1	9044	broad.mit.edu	37	10	93771156	93771156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:93771156C>T	uc001khr.3	+	29	4393	c.4295C>T	c.(4294-4296)tCt>tTt	p.S1432F		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1432	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTATTCTTTCTGGAACACCA	0.308000														13			9		0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589383	136589383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136589383C>T	uc003qgx.1	-	9	2567	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	BCLAF1_uc011edb.1_Missense_Mutation_p.E100K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E770K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E770K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E599K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	772					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTCTTTCCTTCTTACTC	0.388000														65			20		0	0	0.003954	0	0
PKN3	29941	broad.mit.edu	37	9	131476941	131476941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131476941C>T	uc004bvw.3	+	11	1975	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S	PKN3_uc010myh.3_Missense_Mutation_p.P528S|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	528	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CGAGGAGACTCCGGTGAGGGG	0.642000														9			3		0	0	0.004672	0	0
SCN10A	6336	broad.mit.edu	37	3	38770042	38770042	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38770042C>T	uc003ciq.3	-	14	2631	c.2631G>A	c.(2629-2631)ggG>ggA	p.G877G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	877					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		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)	CCACCAGGTTCCCTAGCACCA	0.498000														14			25		0	0	0.006320	0	0
PCP4	5121	broad.mit.edu	37	21	41300911	41300911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41300911G>A	uc002yyp.3	+	2	145	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	22					central nervous system development	cytosol|nucleus		p.G22R(2)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TGCTACAGATGGACAGAAGAA	0.453000														64			13		0	0	0.004007	0	0
TAF9	6880	broad.mit.edu	37	5	68651550	68651550	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:68651550G>A	uc003jwa.3	-	3	344	c.252C>T	c.(250-252)ttC>ttT	p.F84F	TAF9_uc003jwb.3_Silent_p.F81F	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	84						Cajal body	ATP binding|adenylate kinase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AGCGTTCAGGGAAGAAATCAC	0.333000														77			15		0	0	0.003163	0	0
TOB1	10140	broad.mit.edu	37	17	48940550	48940550	+	Missense_Mutation	SNP	G	A	A	rs150689356		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48940550G>A	uc002isw.3	-	1	1272	c.829C>T	c.(829-831)Cct>Tct	p.P277S	TOB1_uc021uac.1_Missense_Mutation_p.P138S|TOB1_uc010wmz.2_Missense_Mutation_p.P277S|TOB1_uc021uad.1_Missense_Mutation_p.P277S	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	277					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCATATTAGGAAAAATAAAT	0.507000														32			24		0	0	0.002780	0	0
OR2M3	127062	broad.mit.edu	37	1	248366471	248366472	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248366471_248366472CT>TA	uc010pzg.2	+	0	102_103	c.102_103CT>TA	c.(100-105)atcttt>atTAtt	p.F35I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TCCTGGCCATCTTTTCAGTGGC	0.540000														239			61		0	0	0.004672	0	0
ELF5	2001	broad.mit.edu	37	11	34502436	34502436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:34502436C>T	uc001mvo.1	-	5	814	c.584G>A	c.(583-585)tGg>tAg	p.W195*	ELF5_uc021qft.1_Nonsense_Mutation_p.W117*|ELF5_uc001mvp.2_Nonsense_Mutation_p.W185*|ELF5_uc009ykd.2_Nonsense_Mutation_p.W90*	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	195					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCTATCTTCCCATTCCAGAAT	0.418000														13			45		0	0	0.002852	0	0
TTC37	9652	broad.mit.edu	37	5	94852694	94852694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:94852694G>A	uc003klb.3	-	21	2659	c.2362C>T	c.(2362-2364)Cgc>Tgc	p.R788C		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	788							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGCTTGGCGATAATAATTA	0.333000														17			15		0	0	0.002450	0	0
FABP2	2169	broad.mit.edu	37	4	120241921	120241921	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:120241921G>A	uc003icw.3	-	1	203	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	48							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						CTTTGACTGTGAATTTATTTC	0.358000														22			25		0	0	0.003954	0	0
PRG4	10216	broad.mit.edu	37	1	186281394	186281394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:186281394G>A	uc001gru.4	+	10	3932	c.3881G>A	c.(3880-3882)gGa>gAa	p.G1294E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.G1253E|PRG4_uc009wyl.3_Missense_Mutation_p.G1201E|PRG4_uc009wym.3_Missense_Mutation_p.G1160E|PRG4_uc010poo.2_Non-coding_Transcript|TPR_uc001grv.3_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1294					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAGTGTATGGAGAAACGACA	0.433000														70			23		0	0	0.002299	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495124	96495124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96495124G>A	uc001kjv.4	+	8	1722	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D407N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	466					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGACCCAAAGGATATTGACAT	0.498000														77			73		0	0	0.003610	0	0
SPG11	80208	broad.mit.edu	37	15	44876092	44876092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:44876092G>A	uc001ztx.3	-	29	5817	c.5786C>T	c.(5785-5787)cCa>cTa	p.P1929L	SPG11_uc010bdw.3_Missense_Mutation_p.P218L|SPG11_uc010ueh.2_Missense_Mutation_p.P1929L|SPG11_uc010uei.2_Missense_Mutation_p.P1929L|SPG11_uc001zty.1_Missense_Mutation_p.P658L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1929					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATGGATCTCTGGGTGCAGATC	0.493000														38			20		0	0	0.001523	0	0
RFTN2	130132	broad.mit.edu	37	2	198436869	198436869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:198436869C>T	uc002uuo.4	-	8	1771	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	457						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTCCAGCATTCCCGGGAGGGA	0.547000														36			19		0	0	0.001216	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038874	17038874	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17038874C>T	uc002nfb.3	-	24	3488	c.3456G>A	c.(3454-3456)ctG>ctA	p.L1152L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1105						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						GTGGGACCCCCAGGGTGAAGG	0.627000														20			31		0	0	0.004289	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086976	39086976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39086976C>T	uc011aej.1	-	2	537	c.484G>A	c.(484-486)Gat>Aat	p.D162N	KCNJ6_uc002ywo.2_Missense_Mutation_p.D162N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	162					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGGCATTTATCTGTGATGACC	0.428000														61			16		0	0	0.001216	0	0
WDFY3	23001	broad.mit.edu	37	4	85617242	85617242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:85617242C>T	uc003hpd.3	-	57	9190	c.8782G>A	c.(8782-8784)Gta>Ata	p.V2928I	WDFY3_uc003hpe.1_Missense_Mutation_p.V539I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2928	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGACATTTACAGCTTCTACT	0.408000														44			24		0	0	0.003954	0	0
TTC3	7267	broad.mit.edu	37	21	38529064	38529064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:38529064G>A	uc002yvz.3	+	27	2953	c.2848G>A	c.(2848-2850)Gac>Aac	p.D950N	TTC3_uc011aee.1_Missense_Mutation_p.D640N|TTC3_uc002ywa.3_Missense_Mutation_p.D950N|TTC3_uc002ywb.3_Missense_Mutation_p.D950N|TTC3_uc010gnf.3_Missense_Mutation_p.D715N|TTC3_uc002ywc.3_Missense_Mutation_p.D640N|TTC3_uc002ywd.1_Missense_Mutation_p.D14N	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	950					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCACAAACTAGACTCTATAGA	0.388000														61			9		0	0	0.004482	0	0
TSG101	7251	broad.mit.edu	37	11	18505616	18505616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18505616G>A	uc001mor.3	-	7	784	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	215					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATCCCTACTGGGACCTGCAGG	0.498000														12			65		0	0	0.003610	0	0
CAD	790	broad.mit.edu	37	2	27461301	27461301	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27461301C>T	uc002rji.3	+	30	5025	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I	CAD_uc010eyw.3_Silent_p.I1558I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1621	DHOase (dihydroorotase).				'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			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)	TTCCCCAGATCCTGCTAATTA	0.552000														53			20		0	0	0.001216	0	0
PLCL1	5334	broad.mit.edu	37	2	198950925	198950925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:198950925G>A	uc010fsp.3	+	1	3082	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	PLCL1_uc002uuv.4_Missense_Mutation_p.R816Q	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	895					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATCCATTACGAGAAGCCATA	0.388000														8			9		0	0	0.000673	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930226	47930226	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:47930226G>A	uc003tny.2	-	15	2623	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	863	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCATCACAAGGAACTGATCAT	0.582000														67			22		0	0	0.001523	0	0
CASS4	57091	broad.mit.edu	37	20	55020983	55020983	+	Missense_Mutation	SNP	C	T	T	rs139063252		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:55020983C>T	uc002xxp.2	+	3	712	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CASS4_uc002xxq.4_Missense_Mutation_p.R163W|CASS4_uc010zze.1_Missense_Mutation_p.R109W|CASS4_uc002xxr.2_Missense_Mutation_p.R163W|CASS4_uc010gio.2_Missense_Mutation_p.R163W	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	163					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.R163Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGACCTGTCCGGGCCTCACT	0.567000														30			29		0	0	0.003271	0	0
UBL4B	164153	broad.mit.edu	37	1	110655204	110655204	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110655204G>A	uc001dzc.3	+	0	143	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	Homo sapiens ubiquitin-like 4B (UBL4B), mRNA.	16	Ubiquitin-like.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCAGTCTGAAGGTGTCAGGGC	0.592000														38			21		0	0	0.001523	0	0
OR5K3	403277	broad.mit.edu	37	3	98110187	98110187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98110187G>A	uc011bgw.2	+	0	678	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	226					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						TATTTACAATGAAATCCAAGG	0.343000														65			12		0	0	0.000978	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500708	27500708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27500708G>A	uc002rjl.1	+	3	618	c.200G>A	c.(199-201)gGg>gAg	p.G67E	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.G67E	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	67	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATCCAGGGAATGCTCAA	0.502000														63			21		0	0	0.001523	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277969	10277969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10277969G>A	uc001qxg.2	-	3	606	c.419C>T	c.(418-420)tCc>tTc	p.S140F	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.S94F|CLEC7A_uc001qxh.2_Missense_Mutation_p.S94F|CLEC7A_uc001qxi.2_Missense_Mutation_p.S140F|CLEC7A_uc001qxj.2_Missense_Mutation_p.S61F|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.S94F|CLEC7A_uc021qva.1_Missense_Mutation_p.S94F	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	140	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCCATCCCAGGAATTTAGTGA	0.383000														23			39		0	0	0.002522	0	0
RP1	6101	broad.mit.edu	37	8	55537382	55537382	+	Missense_Mutation	SNP	C	T	T	rs72182715		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55537382C>T	uc003xsd.1	+	3	1088	c.940C>T	c.(940-942)Cct>Tct	p.P314S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	314					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)			ACCAATATATCCTTCTGAAGA	0.308000														37			13		0	0	0.001855	0	0
LAMA3	3909	broad.mit.edu	37	18	21441693	21441693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21441693G>A	uc002kuq.3	+	34	4592	c.4506G>A	c.(4504-4506)atG>atA	p.M1502I	LAMA3_uc002kur.3_Missense_Mutation_p.M1502I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1502	Laminin IV type A.				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)	GCAACAGTATGGTGGCGGATC	0.577000														14			18		0	0	0.006122	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517566	173517566	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:173517566T>C	uc001giz.2	-	11	1846	c.1423A>G	c.(1423-1425)Acc>Gcc	p.T475A	SLC9C2_uc009wwe.2_Missense_Mutation_p.T33A|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	475					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCTACTAAGGTCCAGTTAACA	0.363000														17			50		0	0	0.003610	0	0
TPTE2	93492	broad.mit.edu	37	13	20024470	20024470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:20024470C>T	uc001umd.3	-	12	1028	c.817G>A	c.(817-819)Gat>Aat	p.D273N	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.D162N|TPTE2_uc001ume.3_Missense_Mutation_p.D196N|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	273	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGCTTAGGATCATAAGCTCTT	0.299000														61			34		0	0	0.005524	0	0
TLN2	83660	broad.mit.edu	37	15	63058592	63058592	+	Missense_Mutation	SNP	C	T	T	rs146711240		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:63058592C>T	uc002alb.4	+	37	5167	c.5167C>T	c.(5167-5169)Cgg>Tgg	p.R1723W	TLN2_uc002alc.4_Missense_Mutation_p.R116W|TLN2_uc002ald.3_Missense_Mutation_p.R116W	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1723					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.R1723L(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACAGCGGCTCGGGGAGAAGC	0.542000														44			15		0	0	0.006122	0	0
GTF2H1	2965	broad.mit.edu	37	11	18382231	18382231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18382231C>T	uc001moi.2	+	14	2231	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	GTF2H1_uc001moh.2_Missense_Mutation_p.R513W|GTF2H1_uc009yhm.2_Missense_Mutation_p.R397W	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	513					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAAAAGATTCGGAGACAGTA	0.323000								Nucleotide excision repair (NER)						16			63		0	0	0.003610	0	0
FAM5C	339479	broad.mit.edu	37	1	190129848	190129848	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:190129848G>A	uc001gse.1	-	6	1366	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	FAM5C_uc010pot.1_Silent_p.S276S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	378						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)					TCTTGCTAAGGCTAAAAAGCT	0.398000														91			38		0	0	0.005524	0	0
ACOT4	122970	broad.mit.edu	37	14	74062026	74062026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74062026G>A	uc001xoo.3	+	2	1188	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	312					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GATTCCAATAGAGAAGGCCCA	0.507000														18			21		0	0	0.001216	0	0
MAPK13	5603	broad.mit.edu	37	6	36106167	36106167	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:36106167G>A	uc003ols.3	+	8	806	c.708G>A	c.(706-708)ctG>ctA	p.L236L	MAPK13_uc003olt.3_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	236	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCCAGATCCTGAAAGTGACCG	0.602000														2			28		0	0	0.002445	0	0
ACTN2	88	broad.mit.edu	37	1	236925806	236925806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236925806C>T	uc001hyf.2	+	20	2776	c.2572C>T	c.(2572-2574)Cag>Tag	p.Q858*	ACTN2_uc001hyg.2_Nonsense_Mutation_p.Q650*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Q858*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Q547*	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	858					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.Q858Q(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCCCCGGATCAGGCCCAGTA	0.577000														20			23		0	0	0.003954	0	0
PAX1	5075	broad.mit.edu	37	20	21687255	21687255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:21687255G>A	uc002wsj.2	+	1	520	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PAX1_uc010zsl.2_Missense_Mutation_p.E156K|PAX1_uc010zsm.2_Missense_Mutation_p.E132K	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	156	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.E62K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGCTACAACGAGACCGGCTC	0.652000														68			24		0	0	0.003330	0	0
COL4A2	1284	broad.mit.edu	37	13	111102714	111102714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:111102714C>T	uc001vqx.3	+	19	1541	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	418	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCCGGCATCCCTGCGCTCTA	0.647000														11			16		0	0	0.004007	0	0
POLR2A	5430	broad.mit.edu	37	17	7405248	7405248	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7405248C>T	uc002ghf.4	+	14	2765	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	793					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGCAGAACGTCGAGGGCAAGC	0.512000														25			29		0	0	0.004289	0	0
CTCFL	140690	broad.mit.edu	37	20	56083709	56083709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:56083709G>A	uc010giw.1	-	8	1738	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	CTCFL_uc010gix.1_Missense_Mutation_p.P543S|CTCFL_uc002xym.2_Missense_Mutation_p.P543S|CTCFL_uc010gjb.1_Missense_Mutation_p.P543S|CTCFL_uc010gja.1_Missense_Mutation_p.P493S|CTCFL_uc010gjc.1_Missense_Mutation_p.P543S|CTCFL_uc010gjd.1_Missense_Mutation_p.P543S|CTCFL_uc010gje.3_Missense_Mutation_p.P543S|CTCFL_uc010gjg.3_Missense_Mutation_p.P275S|CTCFL_uc010gjf.3_Missense_Mutation_p.P338S|CTCFL_uc010gjh.2_Missense_Mutation_p.P399S|CTCFL_uc010gji.2_Missense_Mutation_p.P338S|CTCFL_uc010gjj.2_Missense_Mutation_p.P543S|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	543					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TAAACAGTCGGGATGAAATTT	0.438000														197			25		0	0	0.004656	0	0
C1orf9	51430	broad.mit.edu	37	1	172558334	172558334	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172558334T>C	uc001giq.4	+	17	2409	c.2093T>C	c.(2092-2094)gTt>gCt	p.V698A	C1orf9_uc010pmm.1_Missense_Mutation_p.V698A|C1orf9_uc009wwd.3_Missense_Mutation_p.V654A|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	698					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GAAACTGTTGTTCTGGGTGAT	0.413000														81			23		0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168099701	168099701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168099701C>T	uc002udx.3	+	8	1888	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S425F|XIRP2_uc010fpq.3_Missense_Mutation_p.S378F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	425					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						GGTGATATTTCCAGGGGCATT	0.433000														20			10		0	0	0.001368	0	0
TMEM8A	58986	broad.mit.edu	37	16	426736	426736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:426736G>A	uc002cgu.4	-	4	841	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	TMEM8A_uc002cgv.4_Missense_Mutation_p.P45S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	238					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGACGCACGGGGCAGCCCAGG	0.687000														18			10		0	0	0.006214	0	0
LOC441455	441455	broad.mit.edu	37	9	99489118	99489118	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:99489118C>T	uc011luo.1	+	0		c.1016C>T								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		CCAAGTGAGTCCTGGGTGGAG	0.448000														10			19		0	0	0.001882	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382115	41382115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41382115C>T	uc003jmm.1	-	1	727	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	209					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCATCTGCCCAGGCCAGAGA	0.512000														37			17		0	0	0.004990	0	0
DOCK2	1794	broad.mit.edu	37	5	169081436	169081436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169081436C>T	uc003maf.3	+	1	153	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	25	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAGCCCCCCAGCTCTC	0.557000														23			31		0	0	0.003755	0	0
ZNF607	84775	broad.mit.edu	37	19	38189499	38189499	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38189499C>T	uc002ohc.2	-	4	2129	c.1533G>A	c.(1531-1533)ggG>ggA	p.G511G	ZNF607_uc002ohb.2_Silent_p.G510G	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	511					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)			TAAAGGCCTTCCCACATTCCT	0.403000														57			21		0	0	0.001882	0	0
CSMD2	114784	broad.mit.edu	37	1	34383840	34383840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34383840G>A	uc001bxm.1	-	4	952	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	CSMD2_uc001bxn.1_Missense_Mutation_p.P219S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	219	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTCCGAGGGGAAGTGGGGG	0.582000														16			7		0	0	0.003080	0	0
MKI67	4288	broad.mit.edu	37	10	129911697	129911697	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129911697G>A	uc001lke.3	-	7	1845	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	MKI67_uc001lkf.3_Silent_p.I190I|MKI67_uc009yav.1_Silent_p.I125I|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	550					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCACCTTGATGATTTTCTTCA	0.458000														95			39		0	0	0.007835	0	0
NME8	51314	broad.mit.edu	37	7	37927900	37927900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:37927900G>A	uc003tfn.3	+	14	1641	c.1269G>A	c.(1267-1269)atG>atA	p.M423I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	423	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTTTGCGATGGACAGTTTGC	0.363000														78			30		0	0	0.005524	0	0
STOM	2040	broad.mit.edu	37	9	124110310	124110310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:124110310G>A	uc004blh.3	-	5	723	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.R164C	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	215					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CGGGCCTCGCGGGACGCTTCT	0.423000														75			20		0	0	0.001882	0	0
GRID1	2894	broad.mit.edu	37	10	87489366	87489366	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:87489366C>T	uc001kdl.1	-	8	1340	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_5'UTR	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	413						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGTCCCATGTCGCCAACTGTG	0.532000										Multiple Myeloma(13;0.14)				31			19		0	0	0.001523	0	0
NPY5R	4889	broad.mit.edu	37	4	164272238	164272238	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164272238C>T	uc003iqn.3	+	3	995	c.813C>T	c.(811-813)ctC>ctT	p.L271L	NPY5R_uc021xtw.1_Silent_p.L271L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	271					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)				AGGTGAAACTCTCTGGCAGCC	0.398000														19			37		0	0	0.005524	0	0
GATA2	2624	broad.mit.edu	37	3	128205204	128205204	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128205204C>T	uc003ekm.3	-	3	672	c.237G>A	c.(235-237)ctG>ctA	p.L79L	GATA2_uc003ekn.3_Silent_p.L79L|GATA2_uc003eko.2_Silent_p.L79L	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	79					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCCTCCGGTCAGGCGGGCTG	0.652000			Mis		AML(CML blast transformation)									20			7		0	0	0.000673	0	0
CBLL1	79872	broad.mit.edu	37	7	107389390	107389390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107389390C>T	uc003veq.3	+	1	409	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CBLL1_uc011kme.2_5'UTR|CBLL1_uc011kmf.2_Missense_Mutation_p.P27S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	27					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGACGAATTCCTATAAAGCT	0.418000														122			53		0	0	0.003610	0	0
SAP130	79595	broad.mit.edu	37	2	128699649	128699649	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128699649G>A	uc010fmd.2	-	20	3315	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	SAP130_uc002tpn.2_Silent_p.V786V|SAP130_uc002tpp.2_Silent_p.V1026V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1026					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GCAGCTTCAGGACACGGTCTT	0.408000														84			25		0	0	0.006320	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142941	31142941	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31142941G>A	uc003tca.2	+	13	1426	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	ADCYAP1R1_uc003tcg.3_Silent_p.R407R|ADCYAP1R1_uc003tce.2_Silent_p.R406R|ADCYAP1R1_uc003tcb.2_Silent_p.R358R|ADCYAP1R1_uc003tcc.2_Silent_p.R407R|ADCYAP1R1_uc003tcf.1_Silent_p.R137R	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	379					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAGCAAAAGGGAAAGACTCG	0.587000														120			16		0	0	0.003163	0	0
LPA	4018	broad.mit.edu	37	6	160978556	160978556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160978556G>A	uc003qtl.3	-	29	4799	c.4679C>T	c.(4678-4680)cCc>cTc	p.P1560L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4068	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAACACCAGGGTTGTTTCCC	0.493000														9			38		0	0	0.005524	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553072	178553072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178553072C>T	uc003mjw.3	-	17	2779	c.2677G>A	c.(2677-2679)Ggc>Agc	p.G893S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	893	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCACAGAAGCCACGGTGTACC	0.652000														107			14		0	0	0.004007	0	0
SELT	51714	broad.mit.edu	37	3	150340893	150340893	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:150340893G>A	uc021xfp.1	+	2	396	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_016275		P62341	SELT_HUMAN	Homo sapiens selenoprotein T (SELT), mRNA.	104					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGTTGGCAAGGATCCTTTTG	0.373000														27			15		0	0	0.003163	0	0
ZNF254	9534	broad.mit.edu	37	19	24309664	24309664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:24309664C>T	uc002nru.3	+	3	996	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	ZNF254_uc010xrk.2_Missense_Mutation_p.H203Y	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	288					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAGATAATTCATACTGGAGA	0.353000														29			7		0	0	0.001984	0	0
CCDC141	285025	broad.mit.edu	37	2	179720257	179720257	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179720257C>T	uc002une.2	-	18	2995	c.2877G>A	c.(2875-2877)agG>agA	p.R959R	CCDC141_uc002unf.1_Silent_p.R438R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	384							protein binding	p.R384R(1)		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)			TTTCCATTTTCCTTTTCAAAG	0.274000														21			11		0	0	0.000673	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43762387C>T	uc002owd.4	-	4	1309	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	404	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000														165			76		0	0	0.003610	0	0
IDE	3416	broad.mit.edu	37	10	94247036	94247036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94247036G>A	uc001kia.3	-	12	1649	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	IDE_uc010qnp.2_5'UTR|IDE_uc001khz.3_5'UTR	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	525					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTTTGTAGGAAGTTTAAAT	0.328000														341			98		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113529299	113529299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113529299G>A	uc003ynu.3	-	27	4879	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	CSMD3_uc003yns.3_Missense_Mutation_p.R846W|CSMD3_uc003ynt.3_Missense_Mutation_p.R1534W|CSMD3_uc011lhx.2_Missense_Mutation_p.R1470W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1574	Sushi 8.					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						CAGAAGTACCGATTTTCTACC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				39			28		0	0	0.002445	0	0
PSG4	5672	broad.mit.edu	37	19	43421912	43421912	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43421912C>T	uc002ovj.1	-	0	132	c.33G>A	c.(31-33)caG>caA	p.Q11Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.Q11Q	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	11			Q -> H (in dbSNP:rs11883278).		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)				AGGTGATGTGCTGAGTGCAGG	0.597000														83			29		0	0	0.004878	0	0
SREBF1	6720	broad.mit.edu	37	17	17721617	17721617	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:17721617G>A	uc002gru.2	-	5	1334	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Silent_p.L126L|SREBF1_uc002grs.2_Silent_p.L356L|SREBF1_uc002grt.2_Silent_p.L410L|SREBF1_uc010cpp.1_Silent_p.L356L|SREBF1_uc010cpq.1_Silent_p.L380L	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	380	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTCCTGCTTGAGTTTCTGGT	0.542000														21			35		0	0	0.001951	0	0
INTS4L1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:64643370C>T	uc003ttw.3	+	5		c.777C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAGAGATATTCGAGAGGCTCT	0.398000														6			17		0	0	0.002299	0	0
IMPG1	3617	broad.mit.edu	37	6	76751784	76751784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:76751784C>T	uc003pik.1	-	1	257	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	43					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGTTGTTTCATTTCTTGGG	0.323000														43			19		0	0	0.001882	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	T	T	rs147738330		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:28358748C>T	uc001iua.1	-	14	1561	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R386Q|MPP7_uc009xla.2_Missense_Mutation_p.R386Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000														17			11		0	0	0.001368	0	0
TRANK1	9881	broad.mit.edu	37	3	36875372	36875372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36875372G>A	uc003cgj.3	-	20	5818	c.5570C>T	c.(5569-5571)tCc>tTc	p.S1857F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1857					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAGAGCTTGGAAATGGGAAG	0.413000														48			19		0	0	0.007413	0	0
TP53BP1	7158	broad.mit.edu	37	15	43784542	43784542	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43784542G>A	uc001zrs.3	-	1	265	c.117C>T	c.(115-117)caC>caT	p.H39H	TP53BP1_uc010udp.2_Silent_p.H39H|TP53BP1_uc001zrq.4_Silent_p.H44H|TP53BP1_uc001zrr.4_Silent_p.H44H|TP53BP1_uc010udq.1_Silent_p.H44H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	39					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCATACTGAAGTGAGAACCAG	0.418000								Other conserved DNA damage response genes						94			38		0	0	0.006230	0	0
SCN9A	6335	broad.mit.edu	37	2	167151135	167151135	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167151135G>A	uc010fpl.3	-	7	1280	c.939C>T	c.(937-939)ctC>ctT	p.L313L	BC051759_uc002udp.3_Non-coding_Transcript|SCN9A_uc002udr.1_Silent_p.L184L|SCN9A_uc002uds.1_Silent_p.L184L|SCN9A_uc002udt.1_Silent_p.L184L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	313						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACCACAAAGGAGAGCATCTT	0.328000														10			14		0	0	0.003163	0	0
OR6F1	343169	broad.mit.edu	37	1	247875959	247875959	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247875959C>T	uc001idj.1	-	0	99	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGATGTACATCACCAGAAAAA	0.463000														94			73		0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858742	9858742	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9858742G>A	uc010uym.2	-	13	2969	c.2659C>T	c.(2659-2661)Ctg>Ttg	p.L887L	GRIN2A_uc002czo.4_Silent_p.L887L|GRIN2A_uc010uyn.2_Silent_p.L730L|GRIN2A_uc002czr.4_Silent_p.L887L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	887					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)	GATCCCGTCAGATTGAAGTCT	0.473000														103			32		0	0	0.002096	0	0
ZNF70	7621	broad.mit.edu	37	22	24086047	24086047	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:24086047G>A	uc002zxs.3	-	1	1742	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	ZNF70_uc021wmu.1_Silent_p.S427S	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	427						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCCCCCGGAAGGACTTGCCGC	0.547000														16			152		0	0	0.003610	0	0
LOC494141	494141	broad.mit.edu	37	11	18231744	18231744	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18231744C>T	uc009yhh.3	+	1		c.768C>T			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AGAGTTTTATCGAGGTTTGGT	0.443000														11			28		0	0	0.002096	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:25718576C>T	uc003xes.2	-	12	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000														78			66		0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7583695	7583695	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7583695T>C	uc003mxp.1	+	23	6479	c.6200T>C	c.(6199-6201)cTg>cCg	p.L2067P	DSP_uc003mxq.1_Missense_Mutation_p.L1468P|DSP_uc021yle.1_Missense_Mutation_p.L1624P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2067	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)		AATGAGAAGCTGACTGTCGAC	0.473000														58			123		0	0	0.003610	0	0
ALS2CL	259173	broad.mit.edu	37	3	46729610	46729610	+	Missense_Mutation	SNP	G	A	A	rs144978241		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46729610G>A	uc003cqa.2	-	2	473	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R94C	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	94					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding	p.R94C(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGTACACGGTCAGCACCT	0.617000														23			25		0	0	0.007291	0	0
CEP97	79598	broad.mit.edu	37	3	101446231	101446231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101446231C>T	uc003dvk.1	+	2	218	c.191C>T	c.(190-192)tCa>tTa	p.S64L	CEP97_uc010hpm.1_Missense_Mutation_p.S64L|CEP97_uc011bhf.1_Missense_Mutation_p.S64L|CEP97_uc003dvl.1_5'UTR	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	64						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACAGTTATCAGTAGCTAAT	0.348000														54			18		0	0	0.001216	0	0
POM121L12	285877	broad.mit.edu	37	7	53103958	53103958	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:53103958C>T	uc003tpz.3	+	0	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	198								p.F198F(4)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667000														80			32		0	0	0.003755	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886130	24886130	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24886130C>T	uc001wpf.4	+	8	5493	c.5175C>T	c.(5173-5175)gcC>gcT	p.A1725A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1725	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCAAGAGGGCCCTCAAGGAGT	0.642000														14			10		0	0	0.000978	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923456	9923456	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9923456G>A	uc010uym.2	-	9	2141	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	GRIN2A_uc002czo.4_Silent_p.L611L|GRIN2A_uc010uyn.2_Silent_p.L454L|GRIN2A_uc002czr.4_Silent_p.L611L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	611					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	p.G610S(1)		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)	TTGAACACCAGGCCCCAAAGA	0.458000														56			16		0	0	0.006122	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898264	64898264	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:64898264C>T	uc001xhb.3	+	13	1713	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	MTHFD1_uc010aqe.2_Silent_p.L478L|MTHFD1_uc010aqf.3_Silent_p.L498L	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	442	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATCTCCACCTCACAGGTGACA	0.443000														5			16		0	0	0.006122	0	0
HPS5	11234	broad.mit.edu	37	11	18303642	18303642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18303642C>T	uc001mod.1	-	21	3462	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	HPS5_uc001moe.1_Missense_Mutation_p.V948M|HPS5_uc001mof.1_Missense_Mutation_p.V948M	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	1062						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACATTCTCCACATTGATGGGG	0.542000									Hermansky-Pudlak syndrome					12			42		0	0	0.002222	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152287816C>T	uc001ezu.1	-	1	153	c.117G>A	c.(115-117)aaG>aaA	p.K39K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis					118			38		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41447141	41447141	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41447141C>T	uc002yyq.1	-	27	5164	c.4712_splice	c.e27-1	p.S1571_splice	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1571					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAATTGTACCTGAAAGCAGG	0.498000														38			10		0	0	0.000978	0	0
DDX41	51428	broad.mit.edu	37	5	176939113	176939113	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176939113G>A	uc003mho.3	-	15	1737	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Silent_p.S441S|DDX41_uc003mhp.3_Silent_p.S441S	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	572					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TGTCCAGCATGGACTCATCCC	0.617000														23			48		0	0	0.003610	0	0
POLQ	10721	broad.mit.edu	37	3	121208787	121208787	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121208787A>C	uc003eee.4	-	15	3120	c.2991T>G	c.(2989-2991)aaT>aaG	p.N997K	POLQ_uc003eed.3_Missense_Mutation_p.N169K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	997					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTCTCTTTATTTATATCTA	0.363000								DNA polymerases (catalytic subunits)						54			17		0	0	0.006122	0	0
CCP110	9738	broad.mit.edu	37	16	19554064	19554064	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19554064C>T	uc002dgl.4	+	6	2596	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	CCP110_uc002dgk.4_Silent_p.A783A	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	783	Calmodulin-binding.				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						TTGGAAGAGCCAAAACTAGAT	0.368000														22			10		0	0	0.000978	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809058	43809058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43809058C>T	uc002zbb.2	-	3	503	c.302G>A	c.(301-303)gGg>gAg	p.G101E	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G101E|TMPRSS3_uc002zbd.3_Missense_Mutation_p.G101E	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	101	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTCGTCCTCCCCGTCTTTGCA	0.537000														46			6		0	0	0.003080	0	0
MYH14	79784	broad.mit.edu	37	19	50812353	50812353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50812353G>A	uc010enu.1	+	41	5926	c.5879G>A	c.(5878-5880)aGg>aAg	p.R1960K	MYH14_uc002prq.1_Missense_Mutation_p.R1927K|MYH14_uc002prr.1_Missense_Mutation_p.R1919K|MYH14_uc010ycb.2_Missense_Mutation_p.R270K|MYH14_uc002prs.1_Missense_Mutation_p.R270K	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1919					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCGCCGGAGGCTGCAGCGT	0.622000														48			19		0	0	0.007413	0	0
EP300	2033	broad.mit.edu	37	22	41564798	41564798	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41564798G>T	uc003azl.4	+	24	4494	c.4099G>T	c.(4099-4101)Gat>Tat	p.D1367Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1367					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGAAGAAATTGATGGTGTTGA	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					120			34		2.20474e-14	3.50148e-14	0.003755	1	0
SYK	6850	broad.mit.edu	37	9	93650881	93650881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:93650881G>A	uc004aqz.3	+	12	2012	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	SYK_uc004ara.3_Missense_Mutation_p.D580N|SYK_uc004arb.3_Missense_Mutation_p.D580N|SYK_uc004arc.3_Missense_Mutation_p.D603N|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	603	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.D580H(1)|p.L603L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAGATGTACGATCTCATGAA	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									7			4		0	0	0.000248	0	0
MDH1B	130752	broad.mit.edu	37	2	207619767	207619767	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:207619767G>A	uc002vbs.3	-	4	931	c.876C>T	c.(874-876)gcC>gcT	p.A292A	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.A292A|MDH1B_uc021vvm.1_Silent_p.A194A	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	292					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.A292V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGGCCAGTATGGCTTTCGCTT	0.423000														25			17		0	0	0.004007	0	0
GAB4	128954	broad.mit.edu	37	22	17445721	17445721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:17445721G>A	uc002zlw.3	-	7	1519	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	471										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGAGATGGGGTGTTGGGAG	0.572000														52			14		0	0	0.004007	0	0
RFPL1	5988	broad.mit.edu	37	22	29835098	29835098	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:29835098G>A	uc003afn.3	+	0	527	c.318G>A	c.(316-318)ctG>ctA	p.L106L	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	106							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAAGGAACTGGAGCCCAAGC	0.527000														128			38		0	0	0.006999	0	0
ABHD12B	145447	broad.mit.edu	37	14	51368622	51368622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:51368622G>A	uc001wys.3	+	9	871	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ABHD12B_uc001wyr.3_Missense_Mutation_p.D209N|ABHD12B_uc001wyq.3_Missense_Mutation_p.D179N|ABHD12B_uc010any.3_Non-coding_Transcript	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	286							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CTTTCCTAATGATGAAAAGTA	0.318000														3			8		0	0	0.006214	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906936	164906936	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164906936C>T	uc003fej.4	-	1	2127	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	SLITRK3_uc003fek.3_Silent_p.E561E|SLITRK3_uc021xgy.1_Silent_p.E561E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	561						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCAAGGATTCTCATTGAGGT	0.532000										HNSCC(40;0.11)				41			13		0	0	0.003163	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032706	4032706	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:4032706A>G	uc003mvv.3	+	1	1046	c.955A>G	c.(955-957)Act>Gct	p.T319A	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	319	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGGTCTGAAACTGATAAAGA	0.413000														43			86		0	0	0.003610	0	0
IDI2	91734	broad.mit.edu	37	10	1066776	1066776	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:1066776C>T	uc001ifv.1	-	3	362	c.297G>A	c.(295-297)aaG>aaA	p.K99K	IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	99	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CGATGGCATCCTTTTCTTCCA	0.522000														6			12		0	0	0.000978	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376722	8376722	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8376722C>T	uc001qui.2	-	4	772	c.213G>A	c.(211-213)ccG>ccA	p.P71P	FAM90A1_uc001quh.2_Silent_p.P71P	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	71							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCCAAAGTTCGGTGGAACCA	0.552000														79			10		0	0	0.006214	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871204	8871204	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:8871204G>A	uc002qzc.2	-	29	5144	c.4962C>T	c.(4960-4962)tcC>tcT	p.S1654S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.S1555S|KIDINS220_uc002qzb.2_Silent_p.S508S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1654					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTGCATTCGGAAGGGCTTT	0.517000														43			31		0	0	0.002096	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749403	62749403	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62749403G>A	uc001nwk.3	-	3	1041	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SLC22A6_uc001nwl.3_Silent_p.L236L|SLC22A6_uc001nwj.3_Silent_p.L236L|SLC22A6_uc001nwm.3_Silent_p.L236L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	236					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L236L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACCAGCCAGGAGGAACTGGC	0.592000														15			15		0	0	0.002450	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013235	73013235	+	Silent	SNP	C	T	T	rs145038184	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:73013235C>T	uc003hgg.2	+	3	1373	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NPFFR2_uc010iig.2_Silent_p.F207F|NPFFR2_uc003hgi.2_Silent_p.F326F|NPFFR2_uc003hgh.2_Silent_p.F323F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	425					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGCTGGCATTCGGCAACAGCA	0.463000														35			32		0	0	0.003271	0	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214170398C>T	uc001hkh.3	+	1	792	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_uc001hkg.1_Missense_Mutation_p.R174W	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000														67			32		0	0	0.003271	0	0
NFATC2	4773	broad.mit.edu	37	20	50092036	50092036	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:50092036G>A	uc002xwd.3	-	3	1714	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	NFATC2_uc002xwc.3_Silent_p.V498V|NFATC2_uc010zyv.2_Silent_p.V279V|NFATC2_uc010zyw.2_Silent_p.V279V|NFATC2_uc002xwe.3_Silent_p.V478V|NFATC2_uc010zyx.2_Silent_p.V478V|NFATC2_uc010zyy.2_Silent_p.V279V|NFATC2_uc010zyz.2_Silent_p.V279V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	498	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K497E(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTATCTCCAGGACTTTGGTGT	0.577000														157			70		0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154394966	154394966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154394966C>T	uc010jih.1	+	0	1707	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	516					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.H515Y(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)			ACTCAGCATGCTCTCCATCAA	0.493000														46			36		0	0	0.006230	0	0
LRRK1	79705	broad.mit.edu	37	15	101595334	101595334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101595334C>T	uc002bwr.3	+	26	4557	c.4238C>T	c.(4237-4239)tCg>tTg	p.S1413L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1413	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1413D(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TACGGGATTTCGAGGCAGTCA	0.522000														38			38		0	0	0.007835	0	0
RYR3	6263	broad.mit.edu	37	15	33603265	33603265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:33603265G>A	uc001zhi.3	+	0	89	c.19G>A	c.(19-21)Gga>Aga	p.G7R	RYR3_uc010bar.3_Missense_Mutation_p.G7R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	7					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)		AGGGGGAGAAGGAGGCGAGGA	0.741000														18			8		0	0	0.006214	0	0
KCNT2	343450	broad.mit.edu	37	1	196227610	196227610	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196227610G>A	uc001gtd.1	-	25	2985	c.2925C>T	c.(2923-2925)atC>atT	p.I975I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.I908I|KCNT2_uc001gtf.1_Silent_p.I951I|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Silent_p.I479I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	975						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTCTACACTGATAGATATTT	0.363000														57			10		0	0	0.000978	0	0
ODZ3	55714	broad.mit.edu	37	4	183675719	183675719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:183675719C>T	uc003ivd.1	+	20	4274	c.4199C>T	c.(4198-4200)aCa>aTa	p.T1400I	ODZ3_uc003ive.1_Missense_Mutation_p.T813I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1400					signal transduction	integral to membrane				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)		GCGGTGCAGACAACACTGGAA	0.512000														13			17		0	0	0.004990	0	0
HDAC9	9734	broad.mit.edu	37	7	18687443	18687443	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18687443G>A	uc003sui.3	+	8	1112	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	HDAC9_uc003sue.3_Silent_p.E354E|HDAC9_uc011jyd.2_Silent_p.E354E|HDAC9_uc003suh.3_Silent_p.E354E|HDAC9_uc003suj.3_Silent_p.E313E|HDAC9_uc011jya.2_Silent_p.E352E|HDAC9_uc003sua.1_Silent_p.E332E|HDAC9_uc003sud.2_Silent_p.E354E|HDAC9_uc011jyc.2_Silent_p.E313E|HDAC9_uc011jyb.2_Silent_p.E310E|HDAC9_uc003suf.2_Silent_p.E385E|HDAC9_uc010kud.2_Silent_p.E357E|HDAC9_uc011jye.2_Silent_p.E326E|HDAC9_uc011jyf.2_Silent_p.E277E|HDAC9_uc010kue.1_Silent_p.E97E	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	354					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGAAGTGTGAGACGCAGACGC	0.483000														28			4		0	0	0.000602	0	0
GLT1D1	144423	broad.mit.edu	37	12	129429874	129429874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:129429874G>A	uc010tbh.1	+	9	643	c.634G>A	c.(634-636)Gat>Aat	p.D212N	GLT1D1_uc001uhx.1_Missense_Mutation_p.D127N|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	207					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.D127H(1)|p.N211I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTTCAGGTCGATCCAGTGTT	0.572000														9			36		0	0	0.006230	0	0
HTR6	3362	broad.mit.edu	37	1	20005187	20005188	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20005187_20005188GG>AA	uc001bcl.3	+	1	1309_1310	c.842_843GG>AA	c.(841-843)tgg>tAA	p.W281*		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	281					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTTGTGACCTGGTTGCCCTTCT	0.624000														9			10		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13737574	13737574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13737574C>T	uc003jfd.2	-	65	11284	c.11242G>A	c.(11242-11244)Gaa>Aaa	p.E3748K	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3748	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M3747I(1)		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)					GTTACATCTTCCATCAGATGA	0.363000									Kartagener syndrome					60			12		0	0	0.000978	0	0
LHFP	10186	broad.mit.edu	37	13	40175210	40175211	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:40175210_40175211CC>TT	uc001uxf.3	-	1	654_655	c.143_144GG>AA	c.(142-144)cgg>cAA	p.R48Q		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	48						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ATGAGCACCTCCGGAAGGTACC	0.564000			T	HMGA2	lipoma									95			29		0	0	0.004672	0	0
LIPC	3990	broad.mit.edu	37	15	58840567	58840567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:58840567G>A	uc010bga.2	+	7	1455	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	LIPC_uc010bfz.1_Missense_Mutation_p.V283M|LIPC_uc002afa.2_Missense_Mutation_p.V283M|LIPC_uc010bgb.1_Missense_Mutation_p.V181M|LIPC_uc010ugy.2_Missense_Mutation_p.V222M	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	283					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGAGCGATCGGTGCACCTTTT	0.577000														62			55		0	0	0.003610	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32495997	32495997	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32495997C>T	uc001bub.3	+	1	587	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	KHDRBS1_uc001bua.1_Silent_p.L161L|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	161					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAGCGAGTGCTGATACCTGT	0.358000														23			15		0	0	0.003163	0	0
TRPA1	8989	broad.mit.edu	37	8	72975757	72975757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72975757G>A	uc003xza.3	-	4	777	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	201						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)	TTGGTGAATAGGGAAACATCC	0.348000														50			16		0	0	0.001216	0	0
PRKCB	5579	broad.mit.edu	37	16	24231384	24231384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:24231384G>A	uc002dmd.3	+	16	2163	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	PRKCB_uc002dme.3_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	656	AGC-kinase C-terminal.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGACCAAAATGAATTTGCTGG	0.448000														25			36		0	0	0.006230	0	0
ZNF225	7768	broad.mit.edu	37	19	44636451	44636451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44636451C>T	uc002oyj.1	+	4	1927	c.1684C>T	c.(1684-1686)Cac>Tac	p.H562Y	ZNF225_uc010ejf.1_Missense_Mutation_p.H562Y	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CCAGAGGGTCCACACCGGAGA	0.448000														31			21		0	0	0.001523	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224001	43224001	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:43224001C>T	uc002lbe.3	+	9	2043	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC14A2_uc002lbb.3_Silent_p.F409F|SLC14A2_uc010dnj.3_Silent_p.F409F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	409						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCATCTTCCTGCTCCTGA	0.542000														94			33		0	0	0.003755	0	0
NELL1	4745	broad.mit.edu	37	11	20869269	20869269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:20869269C>T	uc009yid.3	+	4	713	c.560C>T	c.(559-561)tCt>tTt	p.S187F	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.S159F|NELL1_uc001mqf.3_Missense_Mutation_p.S159F|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	159	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTAGCGCCTCTCATCTCCTG	0.463000														4			8		0	0	0.003080	0	0
ARL16	339231	broad.mit.edu	37	17	79650601	79650601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79650601C>T	uc002kbf.3	-	1	256	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	ARL16_uc021ufd.1_Silent_p.K3K|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	53							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCAGGTCGCCTTTCCCATCC	0.731000														9			4		0	0	0.000248	0	0
PIGC	5279	broad.mit.edu	37	1	172411146	172411146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172411146G>A	uc021pey.1	-	0	617	c.617C>T	c.(616-618)gCc>gTc	p.A206V	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Missense_Mutation_p.A206V|PIGC_uc001gio.3_Missense_Mutation_p.A206V	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	206					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AATCTGAATGGCAAATGTCAC	0.498000														78			14		0	0	0.004007	0	0
C6orf25	80739	broad.mit.edu	37	6	31691594	31691594	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31691594C>T	uc011doc.2	+	1	280	c.240C>T	c.(238-240)ttC>ttT	p.F80F	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.F80F|C6orf25_uc003nwk.3_Silent_p.F80F|C6orf25_uc011dod.2_Silent_p.F80F|C6orf25_uc003nwn.3_Silent_p.F80F|C6orf25_uc011doe.2_Silent_p.F80F|C6orf25_uc003nwo.3_Silent_p.F80F	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	80						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCCAGCCTTTCGTCGGCCGCC	0.687000														318			160		0	0	0.003610	0	0
GPR176	11245	broad.mit.edu	37	15	40093615	40093615	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40093615G>A	uc001zkj.1	-	2	2132	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	GPR176_uc010uck.1_Silent_p.A362A	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	422					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCAGGGGTGGGGCAGAGGGCG	0.572000														93			43		0	0	0.001951	0	0
DNAH7	56171	broad.mit.edu	37	2	196602810	196602810	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196602810C>T	uc002utj.4	-	64	12011	c.11910G>A	c.(11908-11910)cgG>cgA	p.R3970R	DNAH7_uc002uti.4_Silent_p.R453R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3970					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						CATAACTTGGCCGTTTTGGTA	0.428000														23			7		0	0	0.004482	0	0
ZNF34	80778	broad.mit.edu	37	8	145999287	145999287	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145999287G>A	uc003zdy.4	-	5	1149	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	ZNF34_uc010mgb.3_Silent_p.S246S|ZNF34_uc003zdx.4_Silent_p.S328S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GATAAATCAGGGAAGAGTAGG	0.512000														25			11		0	0	0.000673	0	0
KIAA1274	27143	broad.mit.edu	37	10	72291208	72291208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291208G>A	uc001jrd.4	+	4	912	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	211										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CATCCGGAAAGAGGTGAGGAC	0.617000														24			10		0	0	0.000673	0	0
HDAC5	10014	broad.mit.edu	37	17	42188139	42188140	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42188139_42188140CC>GT	uc002iff.1	-	2	386_387	c.54_55GG>AC	c.(52-57)ttggaa>ttACaa	p.E19Q	HDAC5_uc002ifd.1_Missense_Mutation_p.E18Q|HDAC5_uc002ife.1_Missense_Mutation_p.E18Q|HDAC5_uc010czp.1_Missense_Mutation_p.E18Q|HDAC5_uc002ifh.2_Missense_Mutation_p.E18Q	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	18					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGCAGGATTTCCAAGGATGGTT	0.569000														32			7		0	0	0.004672	0	0
BBS7	55212	broad.mit.edu	37	4	122756341	122756341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122756341G>A	uc003ied.3	-	13	1653	c.1469C>T	c.(1468-1470)cCt>cTt	p.P490L	BBS7_uc003iee.2_Missense_Mutation_p.P490L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	490					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGTGAAAGAGGTTTGATGTG	0.408000									Bardet-Biedl syndrome					20			17		0	0	0.001523	0	0
PDX1	3651	broad.mit.edu	37	13	28498598	28498598	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:28498598G>A	uc001urt.2	+	1	720	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_000209	NP_000200	P52945	PDX1_HUMAN	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	204					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GGAAAAAGGAGGAGGACAAGA	0.647000														144			62		0	0	0.003610	0	0
SUSD4	55061	broad.mit.edu	37	1	223465992	223465992	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:223465992C>T	uc001hnx.3	-	2	783	c.149_splice	c.e2-1	p.G50_splice	SUSD4_uc001hny.4_Splice_Site_p.G50_splice|SUSD4_uc010puw.2_Splice_Site|SUSD4_uc001hnz.2_Splice_Site_p.G50_splice|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	50						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTCATCGAACCCTACATCAA	0.512000														35			5		0	0	0.000602	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773436	145773436	+	Missense_Mutation	SNP	G	A	A	rs151220486		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145773436G>A	uc003zds.1	-	5	1589	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	ARHGAP39_uc011llk.1_Missense_Mutation_p.P345L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P345L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	345	Pro-rich.				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						CGACCGCTGGGGAGAGCCGGC	0.692000														16			8		0	0	0.004482	0	0
KCNT2	343450	broad.mit.edu	37	1	196398838	196398838	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196398838A>G	uc001gtd.1	-	8	748	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.F230L|KCNT2_uc001gtf.1_Missense_Mutation_p.F230L|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.F230L|KCNT2_uc009wyv.1_Missense_Mutation_p.F205L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	230						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGGGAGTCAAAGAGATTCAGC	0.388000														18			4		0	0	0.000248	0	0
CENPT	80152	broad.mit.edu	37	16	67866145	67866145	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67866145T>C	uc002eun.4	-	5	824	c.275A>G	c.(274-276)aAc>aGc	p.N92S	CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Intron	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	92					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TAGTAGGATGTTCTTCAGCAG	0.537000														23			41		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79033165	79033165	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79033165C>T	uc003kgc.3	+	1	8649	c.8577C>T	c.(8575-8577)tcC>tcT	p.S2859S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2859						perinuclear region of cytoplasm		p.S2859S(3)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGACACATCCGATGTGCCTA	0.413000														29			89		0	0	0.003610	0	0
MCPH1	79648	broad.mit.edu	37	8	6338320	6338321	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:6338320_6338321CT>TA	uc003wqi.3	+	10	2135_2136	c.2059_2060CT>TA	c.(2059-2061)ctt>TAt	p.L687Y		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	687	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GACTCACGTGCTTTCCGGGAAG	0.520000														12			16		0	0	0.004672	0	0
PLCB2	5330	broad.mit.edu	37	15	40589094	40589094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40589094G>A	uc001zld.3	-	13	1640	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	PLCB2_uc010bbo.3_Missense_Mutation_p.P447S|PLCB2_uc010ucm.2_Missense_Mutation_p.P447S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	447	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGGGCAGGGGGACACCTGGT	0.552000														30			27		0	0	0.001786	0	0
TRPM6	140803	broad.mit.edu	37	9	77370337	77370337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77370337C>T	uc004ajl.1	-	27	5076	c.4838G>A	c.(4837-4839)gGa>gAa	p.G1613E	TRPM6_uc004ajk.1_Missense_Mutation_p.G1608E|TRPM6_uc022bib.1_Missense_Mutation_p.G1608E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G564E|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.G569E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1613					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTGTTTTCTCCTGGCTCTGG	0.418000														36			18		0	0	0.007413	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102468007	102468007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102468007C>T	uc001yks.2	+	20	4695	c.4531C>T	c.(4531-4533)Ccg>Tcg	p.P1511S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1511	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGCTCTCTCCGTATTACAA	0.502000														10			21		0	0	0.001523	0	0
BMP3	651	broad.mit.edu	37	4	81967643	81967643	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:81967643G>A	uc003hmg.4	+	1	1388	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	356					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCAGACCCTGAAAAAGGCAA	0.478000														24			15		0	0	0.002450	0	0
LRRN2	10446	broad.mit.edu	37	1	204587761	204587761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:204587761C>T	uc021phy.1	-	0	1360	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E454K|LRRN2_uc001hbf.1_Missense_Mutation_p.E454K|LRRN2_uc009xbf.1_Missense_Mutation_p.E454K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	454	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity	p.E454K(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGTAGATCTCGGGTTCGGGT	0.647000														17			35		0	0	0.002222	0	0
ARRDC2	27106	broad.mit.edu	37	19	18120704	18120704	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18120704G>A	uc002nhv.3	+	4	848	c.705G>A	c.(703-705)caG>caA	p.Q235Q	ARRDC2_uc002nhu.3_Silent_p.Q230Q	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	235										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CCCGAAAGCAGAAACGGGCAG	0.706000														32			20		0	0	0.007413	0	0
FCER1A	2205	broad.mit.edu	37	1	159277645	159277645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:159277645C>T	uc001ftq.3	+	5	794	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	233						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGTCACATTTCTCTTGAAGAT	0.388000														53			16		0	0	0.004007	0	0
GPR4	2828	broad.mit.edu	37	19	46095087	46095087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46095087G>A	uc002pcm.3	-	1	983	c.38C>T	c.(37-39)tCg>tTg	p.S13L	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S13L	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	13						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GTCCACGCGCGAGTCCACGTG	0.687000														34			11		0	0	0.002450	0	0
MARK1	4139	broad.mit.edu	37	1	220826519	220826519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220826519C>T	uc009xdw.3	+	15	2413	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	MARK1_uc001hmn.4_Missense_Mutation_p.P605S|MARK1_uc010pun.2_Missense_Mutation_p.P605S|MARK1_uc001hmm.4_Missense_Mutation_p.P583S	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	605					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GACCCGTTTTCCCCGAGGGAG	0.537000														80			19		0	0	0.007413	0	0
TRIML1	339976	broad.mit.edu	37	4	189068478	189068478	+	Silent	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:189068478G>T	uc003izm.1	+	5	1474	c.1359G>T	c.(1357-1359)ggG>ggT	p.G453G	TRIML1_uc003izn.1_Silent_p.G177G	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	453	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAAATGAGGGGACAAACACAG	0.577000														51			28		1.68575e-08	2.66511e-08	0.007291	1	0
COL9A3	1299	broad.mit.edu	37	20	61461890	61461890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61461890G>A	uc002ydm.3	+	23	1240	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	413	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCATGGGAGACCCCGGCCT	0.697000														17			12		0	0	0.004990	0	0
RP1	6101	broad.mit.edu	37	8	55538772	55538772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538772G>A	uc003xsd.1	+	3	2478	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	777					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)			TTAACCAAAAGAAAATCTAGA	0.299000														31			13		0	0	0.002450	0	0
PTCD2	79810	broad.mit.edu	37	5	71631620	71631620	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71631620G>A	uc003kcb.3	+	6	558	c.548_splice	c.e6-1	p.S183_splice	PTCD2_uc011csf.1_Splice_Site|PTCD2_uc003kcc.3_Splice_Site_p.S31_splice|PTCD2_uc011csg.2_Splice_Site_p.G11_splice|PTCD2_uc011csh.2_Splice_Site_p.G74_splice|PTCD2_uc003kcd.3_Splice_Site	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	183										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ACTTTTGGCAGGTGCTTTGCA	0.408000														17			37		0	0	0.006999	0	0
ZNF560	147741	broad.mit.edu	37	19	9578989	9578989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9578989C>T	uc002mlp.1	-	9	844	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ZNF560_uc010dwr.1_Missense_Mutation_p.E106K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						TCATAGAGTTCCTCTCCATTT	0.363000														33			14		0	0	0.002450	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756216	145756216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145756216G>A	uc003zds.1	-	11	3575	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L	C8orf82_uc003zdp.1_5'Flank|C8orf82_uc003zdq.1_5'Flank|ARHGAP39_uc011llk.1_Missense_Mutation_p.P976L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P976L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	976	Rho-GAP.				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						CGGGATCAGGGGCTCCTCCAG	0.706000														9			11		0	0	0.001368	0	0
FAM27L	284123	broad.mit.edu	37	17	21825560	21825560	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:21825560C>T	uc002gyz.3	+	0		c.191C>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tcaggcctgcccggagggtgt	0.637000														41			11		0	0	0.001855	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519652	113519652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:113519652C>T	uc010ljy.1	-	3	1526	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	499					glycogen metabolic process	integral to membrane		p.E499Q(2)		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						TCTGTTGATTCTTTGAGACAT	0.318000														41			12		0	0	0.000978	0	0
ACSBG1	23205	broad.mit.edu	37	15	78486327	78486327	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78486327G>A	uc002bdh.3	-	3	695	c.489C>T	c.(487-489)ctC>ctT	p.L163L	ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Silent_p.L159L|ACSBG1_uc010umy.2_Silent_p.L56L	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	163					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGTTGAAGCCGAGGATGGCCA	0.662000														45			12		0	0	0.001855	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253953	39253953	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39253953G>T	uc010wfo.2	-	0	423	c.384C>A	c.(382-384)agC>agA	p.S128R		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	128	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.P127P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agatgctgcagctggggcggc	0.672000														16			5		1.12685e-05	1.77659e-05	0.004482	1	0
PSAPL1	768239	broad.mit.edu	37	4	7436274	7436274	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:7436274C>T	uc011bwj.2	-	0	427	c.333G>A	c.(331-333)gtG>gtA	p.V111V	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	111	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGTGGGCATCCACCATCCACT	0.632000														7			7		0	0	0.003080	0	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:1168853G>A	uc002qwq.3	+	7	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.N191K(2)|p.G192R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000														76			81		0	0	0.003610	0	0
ITK	3702	broad.mit.edu	37	5	156671372	156671372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156671372G>A	uc003lwo.1	+	12	1415	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	445	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCCTGTCAGATTATCTACG	0.572000			T	SYK	peripheral T-cell lymphoma									438			98		0	0	0.003610	0	0
SKAP1	8631	broad.mit.edu	37	17	46262156	46262156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46262156G>A	uc002ini.1	-	6	608	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	SKAP1_uc002inj.1_Missense_Mutation_p.P166S|SKAP1_uc010dbd.1_Missense_Mutation_p.P72S|SKAP1_uc010dbe.1_Missense_Mutation_p.P166S	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	166	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CGCAGGTGGGGGGCCATCCGT	0.542000														126			30		0	0	0.001512	0	0
C9orf41	138199	broad.mit.edu	37	9	77613660	77613660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77613660G>A	uc004ajq.3	-	4	917	c.764C>T	c.(763-765)cCt>cTt	p.P255L	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	255								p.P255L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ATGGATCCAAGGATAAAGTTT	0.348000														18			13		0	0	0.002450	0	0
FAM83F	113828	broad.mit.edu	37	22	40417373	40417373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40417373G>A	uc003ayk.1	+	3	953	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	287										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTTTGACACGGAGTTCCGGGA	0.602000														14			149		0	0	0.003610	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6042423	6042423	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:6042423C>T	uc010idb.1	-	17	2604	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	JAKMIP1_uc010idc.1_Silent_p.K521K|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	477					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						CCAGGTAGCCCTTCTGCCTGC	0.557000														11			6		0	0	0.003080	0	0
CD274	29126	broad.mit.edu	37	9	5463090	5463090	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:5463090G>A	uc003zje.3	+	3	759	c.651G>A	c.(649-651)gaG>gaA	p.E217E	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_3'UTR|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Silent_p.E103E	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	217	Ig-like C2-type.				T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TAGATCCTGAGGAAAACCATA	0.413000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									10			19		0	0	0.001882	0	0
ZNF121	7675	broad.mit.edu	37	19	9677277	9677278	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9677277_9677278GG>AA	uc010xkp.1	-	3	743_744	c.511_512CC>TT	c.(511-513)ccc>TTc	p.P171F	ZNF121_uc010dwt.2_Missense_Mutation_p.P171F|ZNF121_uc010xkq.1_Missense_Mutation_p.P171F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						ACATTCATAGGGTTTCTCCCCA	0.366000														18			35		0	0	0.004672	0	0
PPRC1	23082	broad.mit.edu	37	10	103901607	103901607	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103901607C>T	uc001kum.3	+	4	3381	c.3342C>T	c.(3340-3342)ccC>ccT	p.P1114P	PPRC1_uc001kun.3_Silent_p.P994P|PPRC1_uc010qqj.2_Silent_p.P1114P|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGAAGCCCCCCTTGCCTGCTA	0.592000														16			9		0	0	0.004482	0	0
TBCE	6905	broad.mit.edu	37	1	235594039	235594039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235594039C>T	uc010pxr.1	+	6	703	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.P194S|TBCE_uc001hxa.1_Missense_Mutation_p.P194S|TBCE_uc001hxb.1_Missense_Mutation_p.P81S	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	194					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACTAAAATTTCCCTCCGGTTC	0.338000														19			16		0	0	0.004007	0	0
C7	730	broad.mit.edu	37	5	40964869	40964869	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:40964869G>A	uc003jmh.3	+	13	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	592	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTCCTGTGGGGAAAAATGTAG	0.368000														77			6		0	0	0.001168	0	0
BAZ2A	11176	broad.mit.edu	37	12	57011244	57011244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57011244G>A	uc001slq.1	-	1	271	c.77C>T	c.(76-78)tCt>tTt	p.S26F	BAZ2A_uc001slp.1_Missense_Mutation_p.S24F|BAZ2A_uc010sqr.1_Missense_Mutation_p.S26F|BAZ2A_uc009zow.1_Missense_Mutation_p.S24F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	26					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGAGGAAGGAGAGGGTTTCAG	0.557000														49			4		0	0	0.000602	0	0
MDM1	56890	broad.mit.edu	37	12	68716926	68716926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:68716926G>A	uc001stz.2	-	4	864	c.728C>T	c.(727-729)cCa>cTa	p.P243L	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Missense_Mutation_p.P198L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	243						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCTTTCACTGGAGATAAACC	0.328000														47			63		0	0	0.003610	0	0
OR13H1	347468	broad.mit.edu	37	X	130678432	130678432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130678432C>T	uc011muw.2	+	0	385	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATCAGCAATCCCCTGCGTTA	0.532000														14			94		0	0	0.003610	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609301	84609301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:84609301G>A	uc004amn.3	+	3	3963	c.3916G>A	c.(3916-3918)Gga>Aga	p.G1306R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1306						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGAGCTTGATGGAGGGGATGC	0.532000														10			9		0	0	0.000673	0	0
DPP9	91039	broad.mit.edu	37	19	4679940	4679940	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4679940G>A	uc002mba.3	-	20	2751	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	LOC100131094_uc021ung.1_Intron	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	802					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGCCGTGGAGGATAAGCAAGC	0.562000														6			12		0	0	0.002450	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263084	232263084	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:232263084G>A	uc002vrs.3	+	1	834	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	218					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGACCCTCAAGGAGATCCACT	0.577000														65			38		0	0	0.003610	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717322	222717322	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:222717322C>T	uc001hnh.1	-	1	589	c.531G>A	c.(529-531)aaG>aaA	p.K177K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	177					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)		AGCAATAGTCCTTGTCAGGAA	0.597000														152			331		0	0	0.003610	0	0
INPP5F	22876	broad.mit.edu	37	10	121551380	121551380	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:121551380G>C	uc001leo.3	+	5	661	c.445_splice	c.e5-1	p.V149_splice	INPP5F_uc001len.4_Splice_Site_p.V149_splice	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	149							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343000														22			14		0	0	0.001855	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24884614C>T	uc001wpf.4	+	8	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCATTTTTCCCGCTGCATT	0.637000														44			33		0	0	0.002096	0	0
COL4A4	1286	broad.mit.edu	37	2	227954607	227954607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:227954607C>T	uc021vxr.1	-	19	1537	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	COL4A4_uc021vxs.1_Missense_Mutation_p.G479E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	479	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGGCCTCTTCCTCCTGGGGG	0.478000														13			12		0	0	0.001368	0	0
PCDH15	65217	broad.mit.edu	37	10	55583058	55583058	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55583058C>T	uc010qhy.1	-	34	4844	c.4449G>A	c.(4447-4449)agG>agA	p.R1483R	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.R1478R|PCDH15_uc021pqz.1_Silent_p.R1453R|PCDH15_uc010qhv.1_Silent_p.R1473R|PCDH15_uc010qhw.1_Silent_p.R1436R|PCDH15_uc010qhx.1_Silent_p.R1407R|PCDH15_uc010qhz.1_Silent_p.R1478R|PCDH15_uc010qia.1_Silent_p.R1456R|PCDH15_uc001jju.1_Silent_p.R1476R|PCDH15_uc010qib.1_Silent_p.R1453R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1476					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATGTTTCCTGTCTTCTG	0.383000										HNSCC(58;0.16)				32			41		0	0	0.003610	0	0
COG1	9382	broad.mit.edu	37	17	71197773	71197773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:71197773C>T	uc002jjg.3	+	6	1843	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	COG1_uc002jjf.1_Missense_Mutation_p.L603F|COG1_uc002jjh.3_Missense_Mutation_p.L603F	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	603					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ACAGGATGCCCTCAACAGTGC	0.572000														23			4		0	0	0.000248	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674859	9674859	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:9674859G>A	uc010vvb.2	-	5	898	c.885C>T	c.(883-885)ttC>ttT	p.F295F	DHRS7C_uc010cof.3_Silent_p.F294F	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	295						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCACCACGGCGAAAAAGAACT	0.577000														5			11		0	0	0.001855	0	0
FYB	2533	broad.mit.edu	37	5	39119080	39119080	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:39119080T>A	uc003jls.3	-	13	2226	c.2159A>T	c.(2158-2160)aAa>aTa	p.K720I	FYB_uc003jlt.3_Missense_Mutation_p.K766I|FYB_uc003jlu.3_Missense_Mutation_p.K720I|FYB_uc011cpl.2_Missense_Mutation_p.K776I	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	720					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCCCCACTTTTTAGAAGTTAT	0.328000														35			10		0	0	0.006214	0	0
CD22	933	broad.mit.edu	37	19	35835957	35835957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35835957G>A	uc010edt.3	+	10	2220	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	CD22_uc010edu.3_Nonsense_Mutation_p.W624*|CD22_uc010edv.3_Nonsense_Mutation_p.W712*|CD22_uc002nzb.4_Nonsense_Mutation_p.W535*|CD22_uc010xst.2_Nonsense_Mutation_p.W540*|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	712					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTCTCAGTTGGAAGAGGACAC	0.557000														90			35		0	0	0.003214	0	0
TPTE	7179	broad.mit.edu	37	21	10951333	10951333	+	Missense_Mutation	SNP	G	A	A	rs148393004		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10951333G>A	uc002yip.1	-	9	747	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109C|TPTE_uc002yir.1_Missense_Mutation_p.R89C|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126Q(1)|p.R126*(1)|p.R109C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATAGAACGATACTCCAAA	0.338000														61			22		0	0	0.001523	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41320445	41320445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41320445C>T	uc003azh.3	+	8	1417	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	XPNPEP3_uc003azi.3_Missense_Mutation_p.S360F|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGCCCCGTTCCCTCCCTCTG	0.458000														84			22		0	0	0.003954	0	0
MCU	90550	broad.mit.edu	37	10	74620224	74620224	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:74620224C>T	uc001jtc.3	+	3	456	c.435C>T	c.(433-435)ctC>ctT	p.L145L	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Silent_p.L145L|MCU_uc001jtd.3_Silent_p.L96L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	145					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACCTCCTCCTCCTTGATGACT	0.398000														67			23		0	0	0.004656	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79730011	79730011	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79730011C>T	uc003kgr.4	+	2	347	c.45C>T	c.(43-45)ctC>ctT	p.L15L	ZFYVE16_uc010jak.2_Silent_p.L15L|ZFYVE16_uc003kgp.3_Silent_p.L15L|ZFYVE16_uc003kgq.4_Silent_p.L15L|ZFYVE16_uc003kgs.4_Silent_p.L15L	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	15					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGGACAAACTCCTTGATGATT	0.333000														36			86		0	0	0.003610	0	0
HELB	92797	broad.mit.edu	37	12	66707833	66707833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66707833C>T	uc001sti.2	+	4	1776	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Intron	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	583					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAATTTTCTTCGGTTAGAGTT	0.378000														311			36		0	0	0.004878	0	0
FCGBP	8857	broad.mit.edu	37	19	40420125	40420125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40420125C>T	uc002omp.4	-	5	2877	c.2869G>A	c.(2869-2871)Gat>Aat	p.D957N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	957	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGCCCATCTGCTGCTTGG	0.582000														16			28		0	0	0.001786	0	0
OR8S1	341568	broad.mit.edu	37	12	48919812	48919812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48919812G>A	uc010slu.2	+	0	398	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTACTTTATGGACAGATCATG	0.527000														388			23		0	0	0.002299	0	0
OTOP2	92736	broad.mit.edu	37	17	72926903	72926903	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72926903G>A	uc010wrp.2	+	5	1265	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	391						integral to membrane		p.V391G(1)		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)					TGGCTGTGGTGGCGGGCACAC	0.607000														32			25		0	0	0.003954	0	0
FLT4	2324	broad.mit.edu	37	5	180047291	180047291	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180047291G>A	uc003mlz.4	-	16	2503	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	FLT4_uc003mma.4_Silent_p.I808I|FLT4_uc003mmb.1_Silent_p.I341I	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	808					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCGTCTTGATGTCTGCGT	0.622000														38			82		0	0	0.003610	0	0
ATP13A3	79572	broad.mit.edu	37	3	194169326	194169326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:194169326G>A	uc003fty.4	-	10	1412	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	ATP13A3_uc003ftz.1_Missense_Mutation_p.P43L	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	337					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATCCACTGAAGGATTTGGCAA	0.333000														34			13		0	0	0.004007	0	0
RPL23P8	222901	broad.mit.edu	37	7	20866925	20866925	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:20866925C>T	uc011jyj.1	+	0		c.9C>T								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		TGTCCTTTTTCCTTCTTTCCA	0.418000														12			6		0	0	0.001168	0	0
CAPZA3	93661	broad.mit.edu	37	12	18892056	18892056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18892056G>A	uc001rdy.3	+	0	1012	c.854G>A	c.(853-855)gGa>gAa	p.G285E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	285					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCTAAATTAGGATATGTCATT	0.383000														52			6		0	0	0.001984	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839186	93839186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93839186C>T	uc001pep.2	+	16	3092	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	979	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGGAATCTCCATGGCCTCAT	0.338000														18			20		0	0	0.001523	0	0
STXBP4	252983	broad.mit.edu	37	17	53078208	53078208	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:53078208A>T	uc002iuf.1	+	6	745	c.538A>T	c.(538-540)Act>Tct	p.T180S	STXBP4_uc010dcc.1_Missense_Mutation_p.T105S|STXBP4_uc010dcd.1_Missense_Mutation_p.T180S	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	180						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GATTCCAATTACTTCAGAAAA	0.328000														52			50		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3229399	3229399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3229399C>T	uc004crg.4	-	6	7002	c.6845G>A	c.(6844-6846)gGg>gAg	p.G2282E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2282	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)				CACCAGACTCCCGTCTGGGAG	0.567000														27			28		0	0	0.005443	0	0
CLN3	1201	broad.mit.edu	37	16	28498850	28498850	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28498850G>A	uc002dpo.3	-	5	710	c.387C>T	c.(385-387)ctC>ctT	p.L129L	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Silent_p.L51L|CLN3_uc002dpm.3_Silent_p.L75L|CLN3_uc010vcu.2_Silent_p.L29L|CLN3_uc010vcv.2_Silent_p.L105L|CLN3_uc002dpp.3_Silent_p.L129L|CLN3_uc021tfs.1_Missense_Mutation_p.R49C|CLN3_uc002dpt.1_Silent_p.L29L|CLN3_uc002dpq.1_Silent_p.L129L|CLN3_uc010bye.1_Silent_p.L129L|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R75C|CLN3_uc002dpu.1_Silent_p.L75L|CLN3_uc002dpw.1_Missense_Mutation_p.R49C|CLN3_uc010vcw.1_Silent_p.L75L|CLN3_uc002dqa.2_Silent_p.L180L|CLN3_uc010vcx.1_Silent_p.L29L|CLN3_uc002dpx.1_Missense_Mutation_p.R79C|CLN3_uc002dpy.1_Missense_Mutation_p.R46C|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	129					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.L129L(2)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCCCACTGACGAGAACCCGGG	0.587000														34			11		0	0	0.000978	0	0
ARMC4	55130	broad.mit.edu	37	10	28260179	28260179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:28260179C>T	uc009xky.3	-	7	1098	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Missense_Mutation_p.E26K|ARMC4_uc001itz.3_Missense_Mutation_p.E334K|ARMC4_uc010qdu.1_Missense_Mutation_p.E26K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	334							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTGCTTCTTCCTTCTTGGGG	0.388000														26			11		0	0	0.000978	0	0
ITGA1	3672	broad.mit.edu	37	5	52221138	52221138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52221138G>A	uc003jou.3	+	18	2848	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.E343K	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	812					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAAATAAGGAAAAATGTAT	0.398000														77			5		0	0	0.001984	0	0
PTPRF	5792	broad.mit.edu	37	1	44083121	44083121	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44083121C>T	uc001cjr.3	+	23	4417	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	PTPRF_uc001cjs.3_Silent_p.I1350I|PTPRF_uc001cju.3_Silent_p.I748I|PTPRF_uc009vwt.3_Silent_p.I919I|PTPRF_uc001cjv.3_Silent_p.I830I|PTPRF_uc001cjw.3_Silent_p.I585I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1359	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCAGTCCATCGACCCTGGAC	0.567000														29			13		0	0	0.002450	0	0
MLL2	8085	broad.mit.edu	37	12	49436535	49436535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49436535G>A	uc001rta.4	-	25	5771	c.5771C>T	c.(5770-5772)cCc>cTc	p.P1924L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1924					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						TTGAAGAAAGGGCCTCTGCAG	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				74			30		0	0	0.002445	0	0
NF1	4763	broad.mit.edu	37	17	29556419	29556419	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:29556419T>C	uc002hgg.3	+	20	3169	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	NF1_uc002hgh.3_Missense_Mutation_p.L929P|NF1_uc010csn.2_Missense_Mutation_p.L789P|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	929					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGTCCTGCTCTGTATCCAATG	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				41			57		0	0	0.003610	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619681	28619681	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28619681G>A	uc002dqn.3	-	6	1168	c.576C>T	c.(574-576)gcC>gcT	p.A192A	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.A101A|SULT1A1_uc002dqi.3_Silent_p.A101A|SULT1A1_uc002dqk.3_Silent_p.A101A|SULT1A1_uc002dql.3_Silent_p.A101A|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.A101A	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGAGTCGTGGGGCCGGTGTGT	0.597000														76			33		0	0	0.004878	0	0
OR14A16	284532	broad.mit.edu	37	1	247978955	247978955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247978955G>A	uc001idm.1	-	0	77	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAAGAGAATCGAATGCAAAAT	0.393000														34			10		0	0	0.000673	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527671	65527671	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:65527671G>A	uc003xvj.2	-	3	1173	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	323					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GCAGCAAACGGTCAATTTCGT	0.468000														29			19		0	0	0.001523	0	0
SNCAIP	9627	broad.mit.edu	37	5	121726833	121726833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121726833G>A	uc003ksw.1	+	1	210	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E2K|SNCAIP_uc003ksy.1_5'UTR|SNCAIP_uc003ksx.1_Missense_Mutation_p.E2K|SNCAIP_uc003ksz.1_5'UTR|SNCAIP_uc010jcu.2_5'UTR|SNCAIP_uc011cwm.1_5'UTR|SNCAIP_uc003kta.1_5'UTR|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_5'UTR|SNCAIP_uc010jcx.1_Missense_Mutation_p.E2K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	2					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGAATAATGGAAGCCCCTGA	0.353000														18			58		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784766	140784766	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140784766C>T	uc003lkh.2	+	0	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.F749F	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	759					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)			TTCGAGCTTTCCTACAGACCT	0.567000														32			53		0	0	0.003610	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22134223G>A	uc010tmd.2	+	0	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(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)		TTTTTTTCACGAAATCATATA	0.393000														15			14		0	0	0.004007	0	0
GRIK1	2897	broad.mit.edu	37	21	30934107	30934107	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:30934107G>A	uc002yno.1	-	14	2658	c.2194C>T	c.(2194-2196)Ctg>Ttg	p.L732L	GRIK1_uc002ynn.3_Silent_p.L717L|GRIK1_uc011acs.2_Silent_p.L732L|GRIK1_uc011act.2_Silent_p.L593L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	732					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTCTTACCAGGGCGGTCTGC	0.512000														19			10		0	0	0.000978	0	0
CLVS1	157807	broad.mit.edu	37	8	62371063	62371063	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:62371063G>A	uc003xuh.3	+	4	1263	c.939G>A	c.(937-939)tcG>tcA	p.S313S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	313					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACGTCCTCGAATCTGGAGA	0.493000														16			18		0	0	0.001523	0	0
SYNE1	23345	broad.mit.edu	37	6	152631048	152631048	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152631048G>A	uc021zhb.1	-	87	17347	c.17124C>T	c.(17122-17124)ctC>ctT	p.L5708L	SYNE1_uc003qos.4_Silent_p.L232L|SYNE1_uc003qot.4_Silent_p.L5637L|SYNE1_uc003qou.4_Silent_p.L5708L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5708					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCATGACAGAGAGGTAAGC	0.607000										HNSCC(10;0.0054)				10			27		0	0	0.006320	0	0
PDCD11	22984	broad.mit.edu	37	10	105184908	105184908	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105184908C>T	uc001kwy.1	+	19	3018	c.2931C>T	c.(2929-2931)tcC>tcT	p.S977S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	977					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGGTGTCTCCCTAACCCTCA	0.587000														31			18		0	0	0.006122	0	0
MICALCL	84953	broad.mit.edu	37	11	12313835	12313835	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:12313835C>T	uc001mkg.1	+	1	411	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	40	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ATGGTTCCTCCCCGCCTCAGG	0.527000														6			22		0	0	0.002299	0	0
MARC2	54996	broad.mit.edu	37	1	220936284	220936284	+	Silent	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220936284C>A	uc001hmq.3	+	3	840	c.642C>A	c.(640-642)atC>atA	p.I214I	MARC2_uc001hmr.3_Silent_p.I214I|MARC2_uc009xdx.3_Silent_p.I214I	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	214	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CGCTCCTGATCATGACAGATG	0.488000														49			15		5.01169e-05	7.88952e-05	0.004990	1	0
SH3GL3	6457	broad.mit.edu	37	15	84245385	84245385	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:84245385G>A	uc002bjw.3	+	5	711	c.516G>A	c.(514-516)aaG>aaA	p.K172K	SH3GL3_uc010uot.1_Silent_p.K172K|SH3GL3_uc002bjx.3_Silent_p.K103K|SH3GL3_uc002bju.3_Silent_p.K180K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	172	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATTATAAAAAGAAACGAGTAG	0.413000														32			30		0	0	0.002445	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585494	115585494	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:115585494G>A	uc004eqi.3	+	9	1421	c.1290G>A	c.(1288-1290)acG>acA	p.T430T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	430					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTGAAGAAACGATCACAACAA	0.348000														5			27		0	0	0.004656	0	0
MCM3AP	8888	broad.mit.edu	37	21	47662798	47662798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47662798C>T	uc002zir.1	-	24	5380	c.5344G>A	c.(5344-5346)Gat>Aat	p.D1782N	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.D277N|MCM3AP_uc002zip.1_Missense_Mutation_p.D523N|MCM3AP_uc002ziq.1_Missense_Mutation_p.D709N|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1782					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.N1781S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTTCAAATCGTTTTTAAAA	0.443000														73			12		0	0	0.001368	0	0
SPPL2B	56928	broad.mit.edu	37	19	2334633	2334633	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2334633C>T	uc002lvs.3	+	1	179	c.99C>T	c.(97-99)gtC>gtT	p.V33V	SPPL2B_uc010dsw.1_Silent_p.V5V|SPPL2B_uc010dsy.1_Silent_p.V5V|SPPL2B_uc010dsz.1_Silent_p.V33V|SPPL2B_uc002lvr.3_Silent_p.V33V	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	33						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGTGGTCTCCCAGGCCG	0.652000														8			12		0	0	0.004007	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665993	8665993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8665993C>T	uc002mkj.1	-	5	903	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	210					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCAAGGTCCGCAGCCACCA	0.637000														25			9		0	0	0.006214	0	0
IPO4	79711	broad.mit.edu	37	14	24653526	24653526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24653526C>T	uc001wmv.1	-	16	2756	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	IPO4_uc001wmt.1_Missense_Mutation_p.D57N|IPO4_uc001wmu.2_Missense_Mutation_p.D241N|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.D443N|IPO4_uc001wmy.1_Missense_Mutation_p.D443N|IPO4_uc001wmz.2_Missense_Mutation_p.D579N	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	579					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AAGTCAGGGTCGTCTACCTGG	0.667000														6			4		0	0	0.000248	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:63726795C>T	uc003tsx.3	+	4	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000														22			34		0	0	0.003755	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861030	75861030	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:75861030G>A	uc001vjl.1	-	20	4142	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	TBC1D4_uc010tht.1_Silent_p.L475L|TBC1D4_uc010thu.1_Silent_p.L422L|TBC1D4_uc010aer.2_Silent_p.L1257L|TBC1D4_uc010aes.2_Silent_p.L1202L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1265						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCAGCTTCCGGAGTTGCTCCA	0.448000														24			26		0	0	0.004656	0	0
MYH13	8735	broad.mit.edu	37	17	10247364	10247364	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10247364G>A	uc002gmk.1	-	15	1737	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	MYH13_uc010vvf.1_Silent_p.S224S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	549	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						TGTTCTTGAAGGAGGTGTCTG	0.498000														45			61		0	0	0.003610	0	0
CHD3	1107	broad.mit.edu	37	17	7806292	7806292	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7806292C>T	uc002gjd.2	+	21	3587	c.3585C>T	c.(3583-3585)acC>acT	p.T1195T	CHD3_uc002gje.2_Silent_p.T1136T|CHD3_uc002gjf.2_Silent_p.T1136T|CHD3_uc002gjh.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1136	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCCTGTCCACCCGAGCTGGGG	0.547000														48			13		0	0	0.001855	0	0
SYT2	127833	broad.mit.edu	37	1	202566020	202566020	+	Silent	SNP	G	A	A	rs139376371		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:202566020G>A	uc001gye.3	-	8	1318	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	SYT2_uc010pqb.2_Silent_p.F375F|SYT2_uc009xaf.3_Silent_p.F205F	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	375	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGCTGCCCACGAAGATCTTGC	0.612000														72			14		0	0	0.004007	0	0
RAB36	9609	broad.mit.edu	37	22	23503099	23503099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:23503099C>T	uc002zwv.1	+	9	891	c.851C>T	c.(850-852)gCc>gTc	p.A284V	RAB36_uc010gtw.1_Missense_Mutation_p.A262V	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	284					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AGCCGCGTAGCCGCCCTGGCA	0.597000														24			58		0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128484222	128484222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:128484222G>A	uc003vnz.4	+	19	3303	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	FLNC_uc003voa.4_Missense_Mutation_p.E1032K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1032					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						CATGCCCCCGGAGGAGGGGCC	0.662000														28			24		0	0	0.002780	0	0
NAALAD2	10003	broad.mit.edu	37	11	89924813	89924813	+	Silent	SNP	T	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89924813T>C	uc001pdf.4	+	18	2230	c.2121T>C	c.(2119-2121)aaT>aaC	p.N707N	NAALAD2_uc009yvx.3_Silent_p.N674N|NAALAD2_uc009yvy.3_Missense_Mutation_p.I295T	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	707					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATTGAAAATAAAGCCAACT	0.358000														27			45		0	0	0.002852	0	0
TMC1	117531	broad.mit.edu	37	9	75387345	75387345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:75387345C>T	uc004aiz.1	+	12	1298	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TMC1_uc010moz.1_Missense_Mutation_p.S211F|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.S107F|TMC1_uc010mpa.1_Missense_Mutation_p.S107F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	253					sensory perception of sound	integral to membrane		p.S253S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCACAATATTCCGTTCTCTTT	0.383000														85			39		0	0	0.002852	0	0
HIC2	23119	broad.mit.edu	37	22	21800874	21800874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:21800874G>A	uc002zur.4	+	2	1920	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	HIC2_uc002zus.4_Missense_Mutation_p.D564N	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	564					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTTCGCCTGCGATGAGTGTGG	0.632000														6			45		0	0	0.003610	0	0
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:90741917G>A	uc003uky.2	+	12	1437	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	CDK14_uc003ukz.1_Silent_p.K387K|CDK14_uc010les.1_Silent_p.K359K|CDK14_uc011khl.1_Silent_p.K276K	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	405	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GTTCCCCAAAGAACAGACTGT	0.502000														84			129		0	0	0.003610	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058553	95058553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:95058553C>T	uc001ydm.2	+	5	1408	c.1198C>T	c.(1198-1200)Ctt>Ttt	p.L400F	SERPINA3_uc001ydo.4_Intron	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	400					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATCCTCTTCCTTGGCAAAGT	0.532000														54			162		0	0	0.003610	0	0
NAGLU	4669	broad.mit.edu	37	17	40693186	40693186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40693186C>T	uc002hzv.3	+	4	1323	c.983C>T	c.(982-984)gCc>gTc	p.A328V		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	328						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TCCTACCTTGCCGCAGCCACC	0.572000														52			34		0	0	0.003755	0	0
AFM	173	broad.mit.edu	37	4	74367531	74367531	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:74367531G>A	uc003hhb.3	+	12	1705	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	558	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGCTGAAGCATGAACTCA	0.388000														9			4		0	0	0.000248	0	0
XIRP2	129446	broad.mit.edu	37	2	168099639	168099639	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168099639G>A	uc002udx.3	+	8	1826	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.W404*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.W357*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	404					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						CCATTAGATGGATCTTTGAGA	0.408000														11			12		0	0	0.001368	0	0
STMN2	11075	broad.mit.edu	37	8	80567214	80567214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:80567214G>A	uc022awk.1	+	3	779	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	STMN2_uc003ybj.3_Missense_Mutation_p.E133K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	133					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GATGGCGGAGGAAAAGCTGAT	0.468000														11			11		0	0	0.001368	0	0
CCDC148	130940	broad.mit.edu	37	2	159201738	159201738	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:159201738C>T	uc002tzq.3	-	2	554	c.240G>A	c.(238-240)ctG>ctA	p.L80L	CCDC148_uc002tzr.3_Intron|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Silent_p.L27L|CCDC148_uc010foj.2_Intron|CCDC148_uc002tzs.2_Silent_p.L80L	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	80										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGACTTCATTCAGCCTCTGGT	0.368000														85			46		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10304883	10304883	+	Missense_Mutation	SNP	C	T	T	rs1140933		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10304883C>T	uc002gmm.2	-	22	3003	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	970				E -> Q (in Ref. 1 and 4).	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K969K(1)		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						GCATGTTTCTCCTTCTCAACC	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					83			121		0	0	0.003610	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198441	91198441	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91198441C>T	uc001kgm.3	-	5	1249	c.948G>A	c.(946-948)caG>caA	p.Q316Q	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	286						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAGCAGCTTGCTGATGACTCA	0.433000														39			18		0	0	0.007413	0	0
LRRC20	55222	broad.mit.edu	37	10	72136260	72136260	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72136260G>A	uc001jqx.1	-	1	252	c.30C>T	c.(28-30)gcC>gcT	p.A10A	LRRC20_uc001jqy.1_Silent_p.A10A|LRRC20_uc001jqz.1_Silent_p.A10A	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	10										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TTGCTACTCTGGCCACGGCCT	0.602000														80			42		0	0	0.003610	0	0
TIMD4	91937	broad.mit.edu	37	5	156381595	156381596	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156381595_156381596GG>AA	uc003lwh.2	-	1	287_288	c.230_231CC>TT	c.(229-231)acc>aTT	p.T77I	TIMD4_uc010jii.2_Missense_Mutation_p.T77I	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	77	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTTCTTGAGGTCACCCTCAT	0.525000														523			106		0	0	0.004672	0	0
PXDNL	137902	broad.mit.edu	37	8	52370068	52370068	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52370068G>A	uc003xqu.4	-	8	1073	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	324					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGAAGACTGGAGTATCTGA	0.413000														33			24		0	0	0.002780	0	0
OR2A14	135941	broad.mit.edu	37	7	143827081	143827081	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143827081G>A	uc011kua.2	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATAGCCTAAGGAATGCAGAGG	0.557000														27			226		0	0	0.003610	0	0
PAM	5066	broad.mit.edu	37	5	102282552	102282552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:102282552G>A	uc003knt.3	+	6	911	c.538G>A	c.(538-540)Gac>Aac	p.D180N	PAM_uc003knw.3_Missense_Mutation_p.D180N|PAM_uc003kns.3_Missense_Mutation_p.D180N|PAM_uc003knu.3_Missense_Mutation_p.D180N|PAM_uc011cuz.2_Missense_Mutation_p.D83N|PAM_uc003knv.3_Missense_Mutation_p.D180N	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	180	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TAATAACAAGGACTGTTCTGG	0.358000														22			6		0	0	0.001984	0	0
ATG2A	23130	broad.mit.edu	37	11	64673043	64673043	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64673043G>A	uc001obx.3	-	23	3571	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	ATG2A_uc001obw.3_5'Flank	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1152							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACCTGAGCAGGAAGGTGGAGG	0.622000														7			7		0	0	0.003080	0	0
PSD3	23362	broad.mit.edu	37	8	18413763	18413764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:18413763_18413764CC>TT	uc003wza.3	-	14	2986_2987	c.2883_2884GG>AA	c.(2881-2886)aaggac>aaAAac	p.D962N	PSD3_uc003wyx.4_Missense_Mutation_p.D291N|PSD3_uc003wyy.3_Missense_Mutation_p.D428N|PSD3_uc003wyz.3_Missense_Mutation_p.D263N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	963					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATCGACGTCCTTGGCTTTGA	0.470000														33			45		0	0	0.004672	0	0
ODZ2	57451	broad.mit.edu	37	5	167420138	167420138	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167420138C>T	uc010jjd.3	+	4	1137	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ODZ2_uc021yhi.1_Silent_p.S309S|ODZ2_uc003lzq.2_Silent_p.S258S|ODZ2_uc003lzr.4_Silent_p.S188S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.S212S(1)|p.S379S(1)|p.S258S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCCCTCTCCGCCATTGCCG	0.572000														81			10		0	0	0.000978	0	0
CPAMD8	27151	broad.mit.edu	37	19	17058029	17058029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17058029C>T	uc002nfb.3	-	20	2690	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	839						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						CCGAGAGCTTCATGTACACCT	0.602000														106			33		0	0	0.004289	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686096	108686096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:108686096C>T	uc009zuw.3	-	2	835	c.644G>A	c.(643-645)aGc>aAc	p.S215N	CMKLR1_uc001tmw.3_Missense_Mutation_p.S215N|CMKLR1_uc001tmv.3_Missense_Mutation_p.S213N|CMKLR1_uc009zuv.3_Missense_Mutation_p.S215N|CMKLR1_uc021rdj.1_Missense_Mutation_p.S213N	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	215					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R214L(1)|p.H215L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CATGTGCCGGCTATACCCCAC	0.557000														9			26		0	0	0.005443	0	0
LOC150776	150776	broad.mit.edu	37	2	132266173	132266173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:132266173C>T	uc010fna.3	+	1	392	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	LOC150776_uc010zax.1_Non-coding_Transcript|LOC150776_uc010zay.1_Non-coding_Transcript|LOC150776_uc010zaz.1_Non-coding_Transcript|LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		GCAGTCCCCTCATGCCAAGGT	0.453000														20			4		0	0	0.000248	0	0
FAM186B	84070	broad.mit.edu	37	12	49994666	49994667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49994666_49994667CC>TT	uc001ruo.3	-	3	929_930	c.756_757GG>AA	c.(754-759)aaggag>aaAAag	p.E253K	FAM186B_uc010smk.2_Missense_Mutation_p.E163K	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	253						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCTGTTCTCCTTGTGTTGGA	0.559000														77			13		0	0	0.004672	0	0
ARAP3	64411	broad.mit.edu	37	5	141051852	141051852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141051852C>T	uc003llm.3	-	9	1480	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R	ARAP3_uc011dbe.2_Missense_Mutation_p.G130R|ARAP3_uc003lln.3_Missense_Mutation_p.G390R|ARAP3_uc003llo.1_Missense_Mutation_p.G468R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	468	PH 2.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAGCACCCCCAGACTCGGCT	0.627000														63			12		0	0	0.001855	0	0
OGDHL	55753	broad.mit.edu	37	10	50952095	50952095	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50952095G>A	uc009xog.3	-	12	1921	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	OGDHL_uc001jie.3_Silent_p.T602T|OGDHL_uc010qgt.2_Silent_p.T545T|OGDHL_uc010qgu.2_Silent_p.T393T|OGDHL_uc009xoh.2_Silent_p.T393T	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	602					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCCGATGTGGGTGAGCATGT	0.617000														21			18		0	0	0.001216	0	0
SYAP1	94056	broad.mit.edu	37	X	16775304	16775304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:16775304C>T	uc004cxp.3	+	7	944	c.803C>T	c.(802-804)aCt>aTt	p.T268I	SYAP1_uc011miv.2_Missense_Mutation_p.T234I	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	Homo sapiens synapse associated protein 1 (SYAP1), transcript variant 1, mRNA.	268										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAAATTTCTACTAGCCCAGGT	0.393000														15			85		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598926	31598926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31598926C>T	uc003nvb.4	+	15	2725	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P826S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	826	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGCGAGACTCCTCCAGTACC	0.502000														173			33		0	0	0.004878	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927982	9927982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9927982C>T	uc010uym.2	-	8	2067	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	GRIN2A_uc002czo.4_Missense_Mutation_p.R586K|GRIN2A_uc010uyn.2_Missense_Mutation_p.R429K|GRIN2A_uc002czr.4_Missense_Mutation_p.R586K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	586					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)	GGCTAAGTTTCTGTTGTATCC	0.388000														71			72		0	0	0.003610	0	0
ZNF93	81931	broad.mit.edu	37	19	20045439	20045439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:20045439C>T	uc002non.3	+	3	1851	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAAGATACTTCATACTGGAGA	0.363000														42			9		0	0	0.004482	0	0
SLC38A4	55089	broad.mit.edu	37	12	47162189	47162189	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47162189C>T	uc001rpi.2	-	16	1844	c.1445_splice	c.e16-1	p.G482_splice	SLC38A4_uc001rpj.2_Splice_Site_p.G482_splice	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	482					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)					CAGAAGAAGCCCCTGAGAAGA	0.403000														23			4		0	0	0.000602	0	0
RXFP1	59350	broad.mit.edu	37	4	159529156	159529156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:159529156C>T	uc003ipz.3	+	5	760	c.497C>T	c.(496-498)tCc>tTc	p.S166F	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_Missense_Mutation_p.S34F|RXFP1_uc011cja.2_Missense_Mutation_p.S85F|RXFP1_uc010iqo.3_Missense_Mutation_p.S166F|RXFP1_uc011cjb.2_Missense_Mutation_p.S112F|RXFP1_uc011cjc.2_Missense_Mutation_p.S85F|RXFP1_uc011cjd.2_Missense_Mutation_p.S85F|RXFP1_uc010iql.3_Missense_Mutation_p.S34F|RXFP1_uc011cje.2_Missense_Mutation_p.S193F|RXFP1_uc010iqm.3_Missense_Mutation_p.S133F|RXFP1_uc011cjf.2_Missense_Mutation_p.S36F|RXFP1_uc010iqn.3_Missense_Mutation_p.S112F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	166						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)		ACATCCATCTCCATCTATGCT	0.348000														59			13		0	0	0.003163	0	0
TEX19	400629	broad.mit.edu	37	17	80320274	80320274	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80320274G>A	uc002keq.3	+	1	558	c.248G>A	c.(247-249)tGg>tAg	p.W83*	TEX19_uc021ufp.1_Nonsense_Mutation_p.W83*	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	83						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GAGCTGAGCTGGGGGCAGAGC	0.642000														44			11		0	0	0.000673	0	0
DNAH2	146754	broad.mit.edu	37	17	7701533	7701533	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7701533C>T	uc002giu.1	+	52	8303	c.8289C>T	c.(8287-8289)atC>atT	p.I2763I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2763	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGTGGGTATCGGGGGCAGCG	0.607000														57			19		0	0	0.001216	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473696	53473696	+	RNA	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53473696G>A	uc002qan.4	-	3		c.805C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AGGAATACAAGAAATTCTTTG	0.373000														19			29		0	0	0.005443	0	0
DPYD	1806	broad.mit.edu	37	1	97564164	97564164	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97564164G>A	uc001drv.3	-	20	2784	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	883					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.Y882H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CGCTGTTCCAGATAAGGTCCA	0.338000														15			9		0	0	0.006214	0	0
ADPRH	141	broad.mit.edu	37	3	119301087	119301087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:119301087G>A	uc003ecs.3	+	2	369	c.71G>A	c.(70-72)tGg>tAg	p.W24*	ADPRH_uc010hqv.3_Nonsense_Mutation_p.W24*|ADPRH_uc011bjb.2_Intron|ADPRH_uc003ect.3_Nonsense_Mutation_p.W24*	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AATGGGAAGTGGGAGTTCCTC	0.572000														36			10		0	0	0.006214	0	0
PDHX	8050	broad.mit.edu	37	11	34991824	34991824	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:34991824C>T	uc001mvt.3	+	6	1481	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	PDHX_uc010rep.2_Silent_p.L304L|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	319					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TAGGCAAGATCTGGTCAAAGG	0.303000														6			16		0	0	0.001216	0	0
TET1	80312	broad.mit.edu	37	10	70332986	70332986	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:70332986C>T	uc001jok.4	+	1	1396	c.891C>T	c.(889-891)taC>taT	p.Y297Y		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	297					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGATTGCTACCCCACCTCCA	0.418000														90			22		0	0	0.003330	0	0
FAM47C	442444	broad.mit.edu	37	X	37026576	37026576	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:37026576G>A	uc004ddl.2	+	0	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	31								p.F30F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642000														16			5		0	0	0.000602	0	0
PSD	5662	broad.mit.edu	37	10	104173533	104173533	+	Missense_Mutation	SNP	G	A	A	rs144187898	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104173533G>A	uc001kvg.1	-	4	2073	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F	PSD_uc001kvh.1_Missense_Mutation_p.L137F|PSD_uc009xxd.1_Missense_Mutation_p.L516F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	516	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACCTGCCAAGGGGTGCTGCC	0.612000														30			10		0	0	0.001368	0	0
GIPR	2696	broad.mit.edu	37	19	46176156	46176157	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46176156_46176157GG>AA	uc002pcu.1	+	4	427_428	c.328_329GG>AA	c.(328-330)gga>AAa	p.G110K	GIPR_uc002pct.1_Missense_Mutation_p.G110K|GIPR_uc010xxp.1_Missense_Mutation_p.G74K|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	110					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGGCCAATGGGGACTTTGGAGA	0.505000														52			16		0	0	0.004672	0	0
ATG2B	55102	broad.mit.edu	37	14	96790332	96790332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:96790332G>A	uc001yfi.3	-	15	2806	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCTGGAACGATCCTAAAAA	0.398000														6			16		0	0	0.004990	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082758	73082758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73082758C>T	uc001jrr.4	+	1	304	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	SLC29A3_uc001jrs.4_Missense_Mutation_p.R83C|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	83					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GTTCAAACTCCGCAACTCCTC	0.552000														30			20		0	0	0.001523	0	0
NETO1	81832	broad.mit.edu	37	18	70423345	70423345	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70423345G>T	uc002lkw.3	-	7	1190	c.906C>A	c.(904-906)aaC>aaA	p.N302K	NETO1_uc002lky.2_Missense_Mutation_p.N302K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	302	LDL-receptor class A.				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)		TAATACACATGTTACTATGGC	0.363000														51			16		9.16793e-09	1.44978e-08	0.004990	1	0
RBP3	5949	broad.mit.edu	37	10	48388736	48388736	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48388736G>A	uc001jez.3	-	0	2256	c.2142C>T	c.(2140-2142)ccC>ccT	p.P714P		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	714	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGTGGTGGGGGTGCTTCCT	0.632000														31			10		0	0	0.000978	0	0
LTBP3	4054	broad.mit.edu	37	11	65313968	65313968	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65313968G>A	uc001oej.3	-	15	2567	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Silent_p.F196F|LTBP3_uc010roi.2_Silent_p.F649F|LTBP3_uc001oei.3_Silent_p.F766F|LTBP3_uc010roj.2_Silent_p.F467F|LTBP3_uc010rok.1_Silent_p.F677F	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	766	Cys-rich.|EGF-like 6; calcium-binding (Potential).					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						AGGTGCAGCGGAAGGAGCCCG	0.746000														8			16		0	0	0.006122	0	0
PRSS12	8492	broad.mit.edu	37	4	119204249	119204249	+	Missense_Mutation	SNP	C	T	T	rs138052286		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:119204249C>T	uc003ica.2	-	11	2104	c.2057G>A	c.(2056-2058)aGg>aAg	p.R686K		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	686	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCATAGCTCCTAGTGCTGTT	0.413000														63			35		0	0	0.004289	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085767	42085767	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42085767G>A	uc002ore.4	+	2	582	c.486G>A	c.(484-486)gtG>gtA	p.V162V	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.V162V	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	162	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AGGGCTCCGTGGTCCTGACCT	0.532000														31			13		0	0	0.002450	0	0
EFHB	151651	broad.mit.edu	37	3	19959780	19959780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:19959780C>T	uc003cbl.4	-	3	1317	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	EFHB_uc003cbm.3_Missense_Mutation_p.G244E	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	374					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTTGGTAATCCTGGTGCTTG	0.373000														201			214		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141135780	141135780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141135780C>T	uc002tvj.1	-	67	11579	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3536	LDL-receptor class A 26.				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)		GTCAAAATCTCCATCACACCA	0.403000										TSP Lung(27;0.18)				40			17		0	0	0.001216	0	0
OR5H2	79310	broad.mit.edu	37	3	98002309	98002309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98002309C>T	uc003dsj.1	+	0	578	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193F(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATGATTTCCTGTACTGAC	0.308000														36			17		0	0	0.004990	0	0
GRM3	2913	broad.mit.edu	37	7	86394864	86394864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:86394864C>T	uc003uid.3	+	1	1502	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	GRM3_uc010lef.3_Nonsense_Mutation_p.Q133*|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	135					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTATGCCATTCAAGAAAACAT	0.433000														74			26		0	0	0.005443	0	0
C1S	716	broad.mit.edu	37	12	7173168	7173168	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7173168C>T	uc001qsj.3	+	9	1484	c.765C>T	c.(763-765)ttC>ttT	p.F255F	C1S_uc001qsk.3_Silent_p.F255F|C1S_uc001qsl.3_Silent_p.F255F|C1S_uc009zfr.3_Silent_p.F88F|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	255	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTCATGGATTCCCTGGGCCTC	0.408000														42			4		0	0	0.000602	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361735	105361735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105361735C>T	uc003ylx.1	+	1	1004	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	319					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCTGCTGTATCGGCTCATTTT	0.483000														160			53		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718610	140718610	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140718610G>A	uc003ljk.2	+	0	257	c.72G>A	c.(70-72)tgG>tgA	p.W24*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Nonsense_Mutation_p.W24*	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	24					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)			CGACCCTGTGGGAGGCCAGGG	0.582000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			25		0	0	0.003330	0	0
PLCH1	23007	broad.mit.edu	37	3	155211982	155211982	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:155211982G>A	uc021xge.1	-	15	2371	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	PLCH1_uc021xgd.1_Silent_p.F698F|PLCH1_uc021xgf.1_Silent_p.F680F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	698	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.F698F(1)|p.F680F(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATTTGCCTTGAATTTGGCTC	0.408000														68			18		0	0	0.001523	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990831	39990831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:39990831C>T	uc002xjy.1	-	3	1602	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	460						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACTCCCCACCCCCCCATGTCC	0.637000														77			47		0	0	0.003610	0	0
GOLGB1	2804	broad.mit.edu	37	3	121437283	121437283	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121437283G>A	uc010hrc.3	-	7	963	c.837C>T	c.(835-837)gtC>gtT	p.V279V	GOLGB1_uc003eei.4_Silent_p.V274V|GOLGB1_uc003eej.4_Silent_p.V240V|GOLGB1_uc021xcy.1_Silent_p.V199V|GOLGB1_uc011bjm.1_Silent_p.V160V|GOLGB1_uc010hrd.1_Silent_p.V238V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	274					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAAGTCAACGACCTGAGCAC	0.458000														53			37		0	0	0.003214	0	0
RNF139	11236	broad.mit.edu	37	8	125498514	125498514	+	Silent	SNP	T	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:125498514T>G	uc003yrc.3	+	1	967	c.624T>G	c.(622-624)gtT>gtG	p.V208V		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	208					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACGATATGTTTATCTTTTGG	0.378000														64			70		0	0	0.003610	0	0
DNAH1	25981	broad.mit.edu	37	3	52394378	52394378	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52394378C>T	uc011bef.2	+	27	4884	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1541	Stem (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)		ATGCTGAGTTCATCTATGGCT	0.567000														19			19		0	0	0.002299	0	0
TCRA	0	broad.mit.edu	37	14	22265623	22265623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22265623G>A	uc010air.1	+	0	165	c.33G>A	c.(31-33)atG>atA	p.M11I	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		TGCTGGGGATGATTTTTGCCC	0.438000														12			7		0	0	0.003080	0	0
HHEX	3087	broad.mit.edu	37	10	94454438	94454438	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94454438C>T	uc001kid.3	+	3	789	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	242					B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.A241D(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						CCCCTGCCTCCCAGGAAGACC	0.458000														270			106		0	0	0.003610	0	0
DDX11	1663	broad.mit.edu	37	12	31254895	31254895	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:31254895C>T	uc001rjt.1	+	20	2432	c.2181C>T	c.(2179-2181)ggC>ggT	p.G727G	DDX11_uc001rjr.1_Silent_p.G727G|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_Silent_p.G399G|DDX11_uc001rjv.1_Silent_p.G727G|DDX11_uc001rjw.1_Silent_p.G701G|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	727					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCCTGCTGGGCCGTCTGGCTG	0.637000										Multiple Myeloma(12;0.14)				9			8		0	0	0.001368	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925567	156925567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156925567C>T	uc001fqo.3	-	18	2616	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	ARHGEF11_uc001fqn.3_Missense_Mutation_p.D566N|ARHGEF11_uc001fqp.1_Missense_Mutation_p.D55N	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	526					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCAAGGCATCCTTTTCTTTC	0.498000														216			149		0	0	0.003610	0	0
SLTM	79811	broad.mit.edu	37	15	59180640	59180640	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59180640G>A	uc002afp.3	-	16	2407	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	SLTM_uc002afn.3_Silent_p.H315H|SLTM_uc002afo.3_Silent_p.H755H|SLTM_uc002afq.3_Silent_p.H342H|SLTM_uc010bgd.3_Silent_p.H342H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	773	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTCTCTCGGTGATCAAAGT	0.403000														108			22		0	0	0.004656	0	0
COL21A1	81578	broad.mit.edu	37	6	55922555	55922555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:55922555C>T	uc003pcs.3	-	29	3006	c.2774G>A	c.(2773-2775)gGa>gAa	p.G925E	COL21A1_uc010jzz.3_Missense_Mutation_p.G310E|COL21A1_uc011dxg.2_Missense_Mutation_p.G298E|COL21A1_uc011dxh.2_Missense_Mutation_p.G276E|COL21A1_uc003pcr.3_Missense_Mutation_p.G282E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGATTCCAGGTTTTCC	0.517000														16			5		0	0	0.000602	0	0
ISX	91464	broad.mit.edu	37	22	35480387	35480387	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:35480387G>A	uc003anj.3	+	2	1344	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TCTGGTTCCAGAATCAGCGAG	0.512000														50			16		0	0	0.004990	0	0
KLF6	1316	broad.mit.edu	37	10	3823999	3823999	+	Silent	SNP	G	A	A	rs1062673		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:3823999G>A	uc001iha.3	-	1	777	c.510C>T	c.(508-510)ccC>ccT	p.P170P	KLF6_uc010qaj.2_Silent_p.P170P|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Silent_p.P170P|KLF6_uc001ihb.2_Silent_p.P170P	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	170					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TCCCTGGCGAGGGCAGCTCCC	0.647000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			20		0	0	0.002299	0	0
RXFP2	122042	broad.mit.edu	37	13	32376299	32376299	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32376299G>A	uc001utt.3	+	17	2093	c.2022G>A	c.(2020-2022)tgG>tgA	p.W674*	RXFP2_uc010aba.3_Nonsense_Mutation_p.W650*	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	674						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGACTTCCTGGATAGTGATTT	0.343000														33			22		0	0	0.005443	0	0
CRB1	23418	broad.mit.edu	37	1	197397075	197397075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:197397075C>T	uc001gtz.3	+	6	2829	c.2620C>T	c.(2620-2622)Ctc>Ttc	p.L874F	CRB1_uc010poz.2_Missense_Mutation_p.L805F|CRB1_uc009wza.3_Missense_Mutation_p.L762F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.L355F|CRB1_uc001gub.1_Missense_Mutation_p.L523F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	874	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAATGCATCTCTCAATCCAGT	0.383000														23			17		0	0	0.006122	0	0
PI4KA	5297	broad.mit.edu	37	22	21081523	21081523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:21081523G>A	uc002zsz.4	-	40	5023	c.4762C>T	c.(4762-4764)Cct>Tct	p.P1588S	PI4KA_uc002zsy.4_Missense_Mutation_p.P398S	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1588					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTCACCGGAGGGAAGGACCGC	0.662000														16			35		0	0	0.007835	0	0
ZNF471	57573	broad.mit.edu	37	19	57037279	57037279	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57037279A>T	uc002qnh.3	+	4	1976	c.1843A>T	c.(1843-1845)Att>Ttt	p.I615F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTTATCCTTAATTTGTCATCA	0.428000														48			20		0	0	0.002299	0	0
KCNG1	3755	broad.mit.edu	37	20	49620632	49620632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49620632G>A	uc002xwa.4	-	2	1781	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	496						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCACTGTCCTGGGACACGCTC	0.597000														46			20		0	0	0.002299	0	0
C3orf64	285203	broad.mit.edu	37	3	69053543	69053543	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:69053543G>A	uc003dnl.3	-	7	1011	c.606C>T	c.(604-606)agC>agT	p.S202S	C3orf64_uc003dnj.3_5'Flank|C3orf64_uc003dnk.3_Silent_p.S202S|C3orf64_uc011bfw.2_Non-coding_Transcript|C3orf64_uc003dnm.1_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	202						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		ACTGCAGAGGGCTTTTGCGCT	0.398000														29			37		0	0	0.005524	0	0
RAVER2	55225	broad.mit.edu	37	1	65255101	65255101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:65255101G>A	uc001dbt.2	+	2	693	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RAVER2_uc001dbs.2_Missense_Mutation_p.E337K|RAVER2_uc010opb.2_Missense_Mutation_p.E216K	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	337	RRM 2.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTTACTTCCAGAGCCAAATCC	0.373000														27			12		0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8501060	8501060	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:8501060C>T	uc003zkk.3	-	24	2566	c.1823_splice	c.e24-1	p.K608_splice	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	608					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGACGGCTCTTATTTTGGT	0.383000										TSP Lung(15;0.13)				4			4		0	0	0.000248	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110708	8110708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:8110708C>T	uc003srk.3	+	5	1683	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	375										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCCCCGGAATCCCAGGATGGT	0.502000														82			123		0	0	0.003610	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:131973708C>T	uc003qcu.4	+	4	651	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.R68C|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.R102C|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000														32			24		0	0	0.003954	0	0
TLE6	79816	broad.mit.edu	37	19	2991957	2991957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2991957C>T	uc002lwt.2	+	13	1470	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L	TLE6_uc002lwu.2_Missense_Mutation_p.P331L	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	331					regulation of transcription, DNA-dependent	nucleus		p.P331H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		ATCATGAAACCTCTGGAGTAC	0.567000														30			18		0	0	0.007413	0	0
BNC1	646	broad.mit.edu	37	15	83931723	83931723	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:83931723G>A	uc002bjt.1	-	3	2368	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	BNC1_uc010uos.1_Silent_p.P748P	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	760					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						TCCTGCGGGAGGGAAAGGTAG	0.428000														9			15		0	0	0.003163	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505700	44505700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:44505700C>T	uc002xqd.3	+	1	748	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ZSWIM3_uc010zxg.2_Missense_Mutation_p.P162L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	168							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCATCACTCCTTCTGACCTG	0.493000														65			41		0	0	0.002522	0	0
BEST3	144453	broad.mit.edu	37	12	70048710	70048710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70048710C>T	uc001svg.3	-	9	2211	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E449K|BEST3_uc010stm.2_Missense_Mutation_p.E556K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	662						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCTCAGTTTCCTTGTTCAGC	0.453000														139			15		0	0	0.004990	0	0
MAT1A	4143	broad.mit.edu	37	10	82034920	82034920	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:82034920C>T	uc001kbw.3	-	6	1059	c.804G>A	c.(802-804)gtG>gtA	p.V268V		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	268					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CATAGGTGTCCACAATAATCT	0.597000														16			7		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179396977	179396977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179396977C>T	uc021vsy.1	-	306	96886	c.96661G>A	c.(96661-96663)Gaa>Aaa	p.E32221K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25916K|TTN_uc021vta.1_Missense_Mutation_p.E25849K|TTN_uc021vtb.1_Missense_Mutation_p.E25724K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33148	Protein kinase.						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)			AAGTCAAGTTCGCTTTTGTAT	0.438000														23			11		0	0	0.001368	0	0
SND1	27044	broad.mit.edu	37	7	127341362	127341362	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127341362C>T	uc003vmi.3	+	4	800	c.574C>T	c.(574-576)Cag>Tag	p.Q192*		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	192					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTCACACCACCAGAAGCCTGT	0.463000														7			75		0	0	0.003610	0	0
OR12D3	81797	broad.mit.edu	37	6	29342738	29342738	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29342738C>T	uc003nme.3	-	0	331	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTAAAATGGCCTCTGTGCTTC	0.493000														16			51		0	0	0.003610	0	0
TOX2	84969	broad.mit.edu	37	20	42697297	42697297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42697297C>T	uc010ggo.3	+	8	1532	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	TOX2_uc002xle.4_Missense_Mutation_p.P456S|TOX2_uc010ggp.3_Missense_Mutation_p.P456S|TOX2_uc002xlf.4_Missense_Mutation_p.P480S|TOX2_uc010zwk.2_Missense_Mutation_p.P376S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCCTGCTCCCCAGGGACAA	0.632000														18			20		0	0	0.001882	0	0
COL25A1	84570	broad.mit.edu	37	4	109745366	109745367	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:109745366_109745367CC>TT	uc021xqo.1	-	33	1864_1865	c.1808_1809GG>AA	c.(1807-1809)cgg>cAA	p.R603Q	COL25A1_uc003hze.1_Missense_Mutation_p.R603Q|COL25A1_uc021xqp.1_Missense_Mutation_p.R603Q|COL25A1_uc003hzg.3_Missense_Mutation_p.R603Q|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.R391Q	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	603	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P602T(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTCTCACCCCGTGGACCAGG	0.411000														9			17		0	0	0.004672	0	0
TECPR2	9895	broad.mit.edu	37	14	102891506	102891506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102891506C>T	uc001ylw.2	+	5	1055	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	TECPR2_uc010txw.2_3'UTR|TECPR2_uc010awl.3_Missense_Mutation_p.P277S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	277							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGGAATCCCCCAACAGTGG	0.493000														18			47		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412521	110412521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110412521G>A	uc003yne.3	+	12	1333	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	410					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACATCAAGGGTGATGACCGT	0.388000										HNSCC(38;0.096)				114			56		0	0	0.003610	0	0
RAB40C	57799	broad.mit.edu	37	16	675979	675979	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:675979C>T	uc021szt.1	+	5	645	c.423C>T	c.(421-423)gcC>gcT	p.A141A	RAB40C_uc021szu.1_Silent_p.A141A|RAB40C_uc021szv.1_Silent_p.A141A|RAB40C_uc002chq.3_Silent_p.A122A|RAB40C_uc002chr.3_Silent_p.A141A	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	141					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CGGAGCAGGCCCGCGCGTACG	0.622000														24			10		0	0	0.000673	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:14542672G>A	uc010dln.3	-	0	928	c.474C>T	c.(472-474)atC>atT	p.I158I	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000														74			37		0	0	0.007835	0	0
C2orf83	56918	broad.mit.edu	37	2	228476116	228476116	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228476116C>T	uc002vph.3	-	2	682	c.447G>A	c.(445-447)ggG>ggA	p.G149G	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	149						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GAAGCTAGTTCCCCTGAAACC	0.473000														46			25		0	0	0.001786	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967057	58967057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58967057C>T	uc002qsv.1	+	3	853	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ZNF324B_uc002qsu.1_Missense_Mutation_p.A239V|ZNF324B_uc010euq.1_Missense_Mutation_p.A249V	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGCGAGGCTCTTCACGCT	0.642000														30			6		0	0	0.000673	0	0
URGCP	55665	broad.mit.edu	37	7	43918514	43918514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43918514G>A	uc003tiw.3	-	5	605	c.548C>T	c.(547-549)cCc>cTc	p.P183L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P140L|URGCP_uc003tiv.3_Missense_Mutation_p.P108L|URGCP_uc003tix.3_Missense_Mutation_p.P174L|URGCP_uc003tiy.3_Missense_Mutation_p.P140L|URGCP_uc003tiz.3_Missense_Mutation_p.P140L|URGCP_uc011kbj.2_Missense_Mutation_p.P140L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	183					cell cycle	centrosome|nucleus	GTP binding	p.P140>?(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGGTCTAAGGGGTTCACTGG	0.527000														24			41		0	0	0.007835	0	0
MRPS27	23107	broad.mit.edu	37	5	71519533	71519533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71519533G>A	uc011cse.2	-	10	1060	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	MRPS27_uc003kca.4_Missense_Mutation_p.P272S|MRPS27_uc003kbz.4_Missense_Mutation_p.P328S|MRPS27_uc011csd.2_Missense_Mutation_p.P109S|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	328						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AGGTATTGAGGAAGCTTGGAC	0.468000														67			55		0	0	0.003610	0	0
PSD4	23550	broad.mit.edu	37	2	113940778	113940778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113940778C>T	uc002tjc.3	+	1	928	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.P248S|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	249					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCAGCAACCCCCTCTTCCT	0.597000														20			23		0	0	0.002780	0	0
MARCH2	51257	broad.mit.edu	37	19	8486881	8486881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8486881C>T	uc002mjv.3	+	2	598	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	MARCH2_uc002mjw.3_Missense_Mutation_p.R53C|MARCH2_uc002mjx.3_Missense_Mutation_p.R53C	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	53					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACCGTCATCCGTGCCTTGGA	0.617000														41			20		0	0	0.003330	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816930	69816930	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:69816930C>T	uc003hef.2	-	0	580	c.549G>A	c.(547-549)ggG>ggA	p.G183G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	183						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGAAGTTTCCCACAGCTTC	0.448000														11			8		0	0	0.004482	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346472	89346472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89346472G>A	uc002fmx.1	-	8	6939	c.6478C>T	c.(6478-6480)Ctt>Ttt	p.L2160F	ANKRD11_uc002fmy.1_Missense_Mutation_p.L2160F|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2160F|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2117F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2160	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGGAGCAAGACTTTCTTCC	0.637000														27			8		0	0	0.004482	0	0
EML1	2009	broad.mit.edu	37	14	100344907	100344907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:100344907C>T	uc001ygr.3	+	4	595	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	EML1_uc010avt.1_Missense_Mutation_p.R144C|EML1_uc010tww.2_Missense_Mutation_p.R145C|EML1_uc001ygq.3_Missense_Mutation_p.R176C|EML1_uc001ygs.3_Missense_Mutation_p.R157C	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	157						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAACCGGAATCGCACAGGCTC	0.507000														15			62		0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60212477	60212477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:60212477C>T	uc001xen.1	-	1	1173	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	322					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTCAGGCTCCGAGACAGTG	0.483000														11			42		0	0	0.002852	0	0
SMG1	23049	broad.mit.edu	37	16	18844455	18844455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:18844455G>A	uc002dfm.3	-	50	8962	c.8599C>T	c.(8599-8601)Cca>Tca	p.P2867S	SMG1_uc010bwb.3_Missense_Mutation_p.P2727S|SMG1_uc010bwa.3_Missense_Mutation_p.P1598S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2867					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R2867*(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTTCTGGAAATATGATT	0.368000														23			14		0	0	0.003163	0	0
TAF5L	27097	broad.mit.edu	37	1	229750146	229750146	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:229750146G>A	uc001htq.3	-	1	250	c.84C>T	c.(82-84)ccC>ccT	p.P28P	TAF5L_uc001htr.3_Silent_p.P28P	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	28					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGCTTCAGGGGACCATCTG	0.582000														57			14		0	0	0.003163	0	0
TSIX	9383	broad.mit.edu	37	X	73043728	73043728	+	RNA	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73043728C>T	uc004ebn.2	+	0		c.31689C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATTTTTATATCCTAGGGCATG	0.358000														3			17		0	0	0.004990	0	0
BSDC1	55108	broad.mit.edu	37	1	32833963	32833963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32833963G>A	uc001bvi.3	-	9	1443	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	BSDC1_uc001bvh.4_Intron|BSDC1_uc010ohg.2_Intron|BSDC1_uc010ohh.2_Intron|BSDC1_uc010ohi.2_Intron|BSDC1_uc001bvg.4_Intron|BSDC1_uc001bvj.3_Nonsense_Mutation_p.Q345*			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	277							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCCTCCTGAGGGGACAGC	0.622000														7			12		0	0	0.001368	0	0
LRFN5	145581	broad.mit.edu	37	14	42356404	42356404	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:42356404C>T	uc001wvm.3	+	2	1774	c.576C>T	c.(574-576)tcC>tcT	p.S192S	LRFN5_uc010ana.3_Silent_p.S192S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	192						integral to membrane		p.S192S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGACCTTCTCCCATTTGCACA	0.438000										HNSCC(30;0.082)				21			11		0	0	0.000978	0	0
ZNF638	27332	broad.mit.edu	37	2	71576164	71576164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71576164C>T	uc002shx.3	+	1	403	c.80C>T	c.(79-81)cCt>cTt	p.P27L	ZNF638_uc010fec.2_Missense_Mutation_p.P133L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P27L|ZNF638_uc002shz.3_Missense_Mutation_p.P27L|ZNF638_uc002shy.3_Missense_Mutation_p.P27L|ZNF638_uc002sia.3_Missense_Mutation_p.P27L|ZNF638_uc002sib.1_Missense_Mutation_p.P27L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	27					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGGATGAGGCCTCCAGGACCA	0.507000														79			16		0	0	0.003163	0	0
ICAM3	3385	broad.mit.edu	37	19	10446489	10446489	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10446489C>T	uc002mob.2	-	2	562	c.507G>A	c.(505-507)gaG>gaA	p.E169E	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Silent_p.E92E|ICAM3_uc010xlf.1_Silent_p.E92E	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	169	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCTCCGCTGGCTCCTCCACTG	0.687000														10			6		0	0	0.001984	0	0
KCNG4	93107	broad.mit.edu	37	16	84270909	84270909	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84270909G>A	uc010voc.2	-	1	304	c.183C>T	c.(181-183)atC>atT	p.I61I	KCNG4_uc002fhu.1_Silent_p.I61I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	61						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGTTGATCAGGATCTCCTTCT	0.642000														18			22		0	0	0.002299	0	0
KIAA1274	27143	broad.mit.edu	37	10	72300953	72300953	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72300953C>T	uc001jrd.4	+	15	2285	c.2004C>T	c.(2002-2004)acC>acT	p.T668T	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	668								p.R667C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGGGCCGTACCACAACTGCGA	0.612000														46			15		0	0	0.004990	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995456	140995456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140995456C>T	uc004fbt.3	+	3	2590	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P415S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	756							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGTCTTCCCCAGAGTTT	0.547000										HNSCC(15;0.026)				23			108		0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201485379	201485379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:201485379G>A	uc002uvx.3	+	16	1812	c.1711G>A	c.(1711-1713)Ggc>Agc	p.G571S	AOX1_uc010zhf.2_Missense_Mutation_p.G127S|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	571					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACAGAATATAGGCCCAAAGCA	0.403000														15			7		0	0	0.003080	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607014	58607014	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58607014G>A	uc001nnd.4	-	1	203	c.72C>T	c.(70-72)tcC>tcT	p.S24S	GLYATL2_uc009ymq.3_Silent_p.S24S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	24						mitochondrion	glycine N-acyltransferase activity	p.S24>?(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTACCTTTATGGATTCAGGGA	0.438000														50			15		0	0	0.006122	0	0
SLC7A11	23657	broad.mit.edu	37	4	139153492	139153492	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:139153492A>C	uc021xrw.1	-	2	729	c.449T>G	c.(448-450)aTt>aGt	p.I150S		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	150					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TGGTTCCAGAATGTAGCGTCC	0.368000														28			40		0	0	0.002852	0	0
DNAH9	1770	broad.mit.edu	37	17	11786988	11786988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11786988C>T	uc002gne.3	+	55	10960	c.10892C>T	c.(10891-10893)tCt>tTt	p.S3631F	DNAH9_uc010coo.3_Missense_Mutation_p.S2925F|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3631	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCTCCGCCTCTGGGAACTTC	0.483000														46			44		0	0	0.002852	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380203	6380203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:6380203C>T	uc003gja.3	-	2	289	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PPP2R2C_uc003gjb.3_Missense_Mutation_p.E72K|PPP2R2C_uc003gjc.3_Missense_Mutation_p.E89K|PPP2R2C_uc011bwd.2_Missense_Mutation_p.E82K|PPP2R2C_uc011bwe.2_Missense_Mutation_p.E82K|PPP2R2C_uc003gjd.1_Missense_Mutation_p.E177K	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	89					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ATCTTCTCCTCTATCTCCAGG	0.582000														41			21		0	0	0.001523	0	0
NES	10763	broad.mit.edu	37	1	156640912	156640912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156640912C>T	uc001fpq.3	-	3	3201	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1023	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCAGGCCTCTCTGCTCTTT	0.657000														75			186		0	0	0.003610	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327564	28327564	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28327564C>T	uc010jrc.3	+	2	534	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ZKSCAN3_uc003nle.4_Silent_p.L67L|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	67	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGAGTCGGCTCCGAGAGCTCT	0.667000														85			14		0	0	0.003163	0	0
TRIM69	140691	broad.mit.edu	37	15	45050926	45050926	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45050926G>A	uc001zuf.2	+	4	1582	c.687G>A	c.(685-687)ggG>ggA	p.G229G	TRIM69_uc001zug.1_Silent_p.G229G|TRIM69_uc001zuh.1_Silent_p.G70G|TRIM69_uc001zui.1_Silent_p.G25G|TRIM69_uc010bdy.1_Silent_p.G25G	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	229					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGAAGAGGGGAAAGCCTTGA	0.473000														29			14		0	0	0.004990	0	0
HOXC5	3222	broad.mit.edu	37	12	54427054	54427054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:54427054C>T	uc001sew.3	+	0	223	c.148C>T	c.(148-150)Cca>Tca	p.P50S	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	50					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CATCACTTTCCCACCGCCTGC	0.642000														7			21		0	0	0.001882	0	0
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4869969G>A	uc010qyo.2	-	0	470	c.470C>T	c.(469-471)tCt>tTt	p.S157F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(2)|p.I156V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		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)		GCATCGAAAAGAAATGGCCAG	0.552000														15			56		0	0	0.003610	0	0
KRT74	121391	broad.mit.edu	37	12	52967412	52967412	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52967412G>A	uc001sap.1	-	0	198	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	50	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAAGGCTATAGAGGCTCCGAC	0.612000														62			12		0	0	0.000978	0	0
GALNT8	26290	broad.mit.edu	37	12	4870139	4870139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4870139G>A	uc001qne.1	+	6	1281	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	397	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCAGTGTGGAGGGAAGGTCGA	0.502000														17			31		0	0	0.003755	0	0
NES	10763	broad.mit.edu	37	1	156639569	156639569	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156639569C>A	uc001fpq.3	-	3	4544	c.4411G>T	c.(4411-4413)Gac>Tac	p.D1471Y	NES_uc021pbh.1_Missense_Mutation_p.D389Y	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1471	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAAGCTGTCATCCCAGGGG	0.612000														51			17		2.39187e-15	3.8006e-15	0.001216	1	0
KIAA1274	27143	broad.mit.edu	37	10	72291073	72291073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291073G>A	uc001jrd.4	+	4	777	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	166								p.E165*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGTGCGGGAGGAACCTGTGCT	0.587000														50			22		0	0	0.002780	0	0
IDH3A	3419	broad.mit.edu	37	15	78458576	78458576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78458576C>T	uc002bdd.3	+	9	976	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	IDH3A_uc010umt.2_Missense_Mutation_p.H282Y|IDH3A_uc010umu.2_Missense_Mutation_p.H208Y|IDH3A_uc002bdf.3_Missense_Mutation_p.H168Y|IDH3A_uc010umv.2_Missense_Mutation_p.H267Y|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.H230Y	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	317					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GATGCTGCGCCACATGGGACT	0.507000														125			93		0	0	0.003610	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207319	135207319	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:135207319C>T	uc003laz.1	+	4	763	c.591C>T	c.(589-591)atC>atT	p.I197I	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	197					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCTACTTCATCCCCTACGTGT	0.627000														16			37		0	0	0.007835	0	0
GRM8	2918	broad.mit.edu	37	7	126173566	126173566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:126173566C>T	uc003vlr.2	-	7	2181	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.V624M|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	624					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTTAGGAGCACGTAACTAAGT	0.458000										HNSCC(24;0.065)				26			60		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13914702	13914702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13914702C>T	uc003jfd.2	-	9	1289	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	416	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCGGTTCCATTATTGGT	0.358000									Kartagener syndrome					35			42		0	0	0.002852	0	0
TACC2	10579	broad.mit.edu	37	10	123845315	123845315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:123845315G>A	uc001lfv.3	+	3	3660	c.3300G>A	c.(3298-3300)atG>atA	p.M1100I	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M1100I|TACC2_uc010qtv.2_Missense_Mutation_p.M1100I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1100						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGAAAATGGAGTGCTGGG	0.617000														18			27		0	0	0.001786	0	0
PDZD7	79955	broad.mit.edu	37	10	102789776	102789776	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102789776G>A	uc001ksn.3	-	1	451	c.201C>T	c.(199-201)gtC>gtT	p.V67V	PDZD7_uc021pxc.1_Silent_p.V67V|PDZD7_uc001kso.2_Silent_p.V67V|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	67						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGATGAGGATGACGCGTCCCA	0.647000														64			22		0	0	0.003330	0	0
SOGA2	23255	broad.mit.edu	37	18	8819049	8819049	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:8819049G>T	uc002knr.2	+	12	3090	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	SOGA2_uc002knq.2_Missense_Mutation_p.S942I|SOGA2_uc002kns.2_Missense_Mutation_p.S323I	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1293																	CACCAGGGAAGCCTCCGCATG	0.572000														5			40		6.2361e-21	9.92151e-21	0.007835	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81063817	81063817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:81063817C>T	uc001kaf.2	+	18	2743	c.2171C>T	c.(2170-2172)aCc>aTc	p.T724I	ZMIZ1_uc001kag.2_Missense_Mutation_p.T600I|ZMIZ1_uc010qlq.1_5'Flank	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	724					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCAACACGACCCTCAACGGG	0.617000														24			13		0	0	0.001855	0	0
COL10A1	1300	broad.mit.edu	37	6	116442158	116442158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:116442158C>T	uc003pwm.3	-	2	1217	c.1121G>A	c.(1120-1122)gGg>gAg	p.G374E	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	374	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		ACCCTTAGCCCCAGGGTATCC	0.592000														21			5		0	0	0.001168	0	0
KCNK9	51305	broad.mit.edu	37	8	140631316	140631316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:140631316C>T	uc003yvf.1	-	1	374	c.310G>A	c.(310-312)Gat>Aat	p.D104N	KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	104						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)			TTGCCCGCATCGGTGCCAGGT	0.612000														7			9		0	0	0.006214	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351431	40351431	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40351431G>A	uc003gva.1	+	4	914	c.898_splice	c.e4+1	p.G300_splice		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	300					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCCCTGATAGGTGAGTCCAA	0.488000														38			29		0	0	0.003271	0	0
RGS4	5999	broad.mit.edu	37	1	163042204	163042204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:163042204C>T	uc001gcl.4	+	2	684	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RGS4_uc009wuy.3_Missense_Mutation_p.R22W|RGS4_uc009wuz.3_Missense_Mutation_p.R22W|RGS4_uc009wva.3_Missense_Mutation_p.R4W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	22	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TATGAAACATCGGCTAGGTTT	0.378000														30			8		0	0	0.004482	0	0
SFRP2	6423	broad.mit.edu	37	4	154702787	154702787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154702787G>A	uc003inv.1	-	2	945	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	235	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity	p.S235L(2)|p.S235S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCACAGCACCGATTTCTTCAG	0.512000														56			20		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207914	140207914	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140207914C>A	uc003lho.2	+	0	265	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	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_uc003lhn.2_Missense_Mutation_p.Q80K|PCDHAC2_uc011dab.2_Missense_Mutation_p.Q80K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	95	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)			GGTAAATCTGCAGAATGGCAT	0.632000														238			29		7.61001e-30	1.21258e-29	0.005524	1	0
TAOK1	57551	broad.mit.edu	37	17	27844552	27844552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27844552C>T	uc002hdz.2	+	15	1980	c.1786C>T	c.(1786-1788)Caa>Taa	p.Q596*	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	596					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGCATTTCCAAGCAGAAGA	0.413000														116			32		0	0	0.004289	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498985	110498985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110498985C>T	uc003yne.3	+	58	9919	c.9815C>T	c.(9814-9816)tCt>tTt	p.S3272F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3272					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCGGTTGGTCTGAGGACTCT	0.423000										HNSCC(38;0.096)				94			80		0	0	0.003610	0	0
TMEM182	130827	broad.mit.edu	37	2	103414344	103414344	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103414344C>T	uc010fjb.3	+	3	541	c.354C>T	c.(352-354)gtC>gtT	p.V118V	TMEM182_uc002tcc.4_Silent_p.V75V|TMEM182_uc002tcd.4_Silent_p.V22V|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	118						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCTGGGCAGTCCTGATGCTCC	0.488000														38			21		0	0	0.003954	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909860	7909860	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7909860C>T	uc002gjt.2	+	3	1280	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	402					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCCCCCATTCGTGCTGCTAG	0.667000														32			8		0	0	0.003080	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986117	31986117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31986117G>A	uc002yop.3	-	0	107	c.107C>T	c.(106-108)tCc>tTc	p.S36F	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	36						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GCCACAGCAGGAGCCATAGCC	0.612000														46			31		0	0	0.004289	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43804764C>T	uc002xng.3	+	1	366	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000														68			44		0	0	0.003610	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36125019	36125019	+	Silent	SNP	G	A	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:36125019G>A	uc001wtj.3	-	27	4363	c.3972C>T	c.(3970-3972)tcC>tcT	p.S1324S	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Silent_p.S1324S|RALGAPA1_uc010tpv.2_Silent_p.S1337S|RALGAPA1_uc010tpw.1_Silent_p.S1371S	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1324					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACCTTTAAGGAAACACAAA	0.308000														104			27		0	0	0.001786	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154950	4154950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4154950C>T	uc002lzl.3	+	1	198	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	CREB3L3_uc002lzm.3_Missense_Mutation_p.L19F|CREB3L3_uc010xib.2_Missense_Mutation_p.L19F|CREB3L3_uc010xic.2_Missense_Mutation_p.L19F	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	28					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGGATCTCCTGTTTGA	0.627000														85			25		0	0	0.005443	0	0
ERLEC1	27248	broad.mit.edu	37	2	54042070	54042070	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:54042070delG	uc002rxl.3	+	12	1658	c.1378delG	c.(1378-1380)gggfs	p.G460fs	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Frame_Shift_Del_p.G434fs|ERLEC1_uc002rxn.3_Frame_Shift_Del_p.G406fs	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	460					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATATATTCTTGGGGTAAGTTA	0.299													---	34	---	---	24	---					
DPP10	57628	broad.mit.edu	37	2	116066879	116066879	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:116066879delT	uc002tle.3	+	1	158	c.137delT	c.(136-138)attfs	p.I46fs	DPP10_uc002tla.2_Frame_Shift_Del_p.I42fs|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_5'UTR|DPP10_uc002tlc.2_Frame_Shift_Del_p.I38fs|DPP10_uc002tlf.2_Frame_Shift_Del_p.I35fs	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	42	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.V46V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGCTGGTGATTTTAGTTGTA	0.393													---	36	---	---	34	---					
KIF1A	547	broad.mit.edu	37	2	241700192	241700193	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:241700192_241700193insG	uc010fzk.3	-	24	2580_2581	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	KIF1A_uc002vzy.3_Frame_Shift_Ins_p.P769fs|KIF1A_uc002vzz.2_Frame_Shift_Ins_p.P778fs	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	769					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGCGGCCTCTGGGGGCAGCAG	0.634													---	9	---	---	4	---					
DHX30	22907	broad.mit.edu	37	3	47884677	47884677	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:47884677delG	uc003cru.3	+	8	1297	c.871delG	c.(871-873)gttfs	p.V291fs	DHX30_uc003crt.3_Frame_Shift_Del_p.V252fs|DHX30_uc010hjr.1_Frame_Shift_Del_p.V319fs	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	291						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGACCTTTGTTGCCAAAGG	0.562													---	58	---	---	25	---					
ABHD6	57406	broad.mit.edu	37	3	58256707	58256707	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58256707delA	uc003djs.4	+	4	849	c.439delA	c.(439-441)accfs	p.T147fs	ABHD6_uc003djt.4_Frame_Shift_Del_p.T147fs	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	147						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCTGGTAGGCACCTCCATGGG	0.502													---	37	---	---	34	---					
GPR125	166647	broad.mit.edu	37	4	22389418	22389418	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22389418delA	uc003gqm.1	-	18	4141	c.3876delT	c.(3874-3876)attfs	p.I1292fs	GPR125_uc010ieo.1_Frame_Shift_Del_p.I1148fs|GPR125_uc003gql.1_Frame_Shift_Del_p.I419fs	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1292					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CATTGCTTTTAATTGGTCCAT	0.448													---	29	---	---	30	---					
RNF175	285533	broad.mit.edu	37	4	154649461	154649461	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154649461delA	uc003int.3	-	3	672	c.299delT	c.(298-300)ttafs	p.L100fs	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	100						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGTATAATTTTATCGT	0.458													---	60	---	---	64	---					
PGGT1B	5229	broad.mit.edu	37	5	114548115	114548125	+	Frame_Shift_Del	DEL	ACATTCTCTGA	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:114548115_114548125delACATTCTCTGA	uc003kqw.4	-	8	1129_1139	c.1108_1118delTCAGAGAATGT	c.(1108-1119)tcagagaatgtafs	p.S370fs	PGGT1B_uc010jch.3_Frame_Shift_Del_p.S293fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA.	370					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GGAGATATGTACATTCTCTGAGCATTGTTTA	0.412													---	86	---	---	33	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	4	---	---	7	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97736519_97736521delGCT	uc003upd.2	+	0	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													---	4	---	---	2	---					
GBF1	8729	broad.mit.edu	37	10	104126880	104126881	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104126880_104126881insT	uc001kux.2	+	19	2763_2764	c.2469_2470insT	c.(2467-2472)tgctttfs	p.C823fs	GBF1_uc001kuy.2_Frame_Shift_Ins_p.C823fs|GBF1_uc001kuz.2_Frame_Shift_Ins_p.C824fs	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	823	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S825fs*25(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCGATGCCTGCTTTTCCCTGGC	0.485													---	63	---	---	76	---					
LRRK2	120892	broad.mit.edu	37	12	40668769	40668769	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:40668769delA	uc001rmg.4	+	15	2036	c.1915delA	c.(1915-1917)aagfs	p.K639fs	LRRK2_uc001rmh.1_Frame_Shift_Del_p.K261fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	639					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.F638Y(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACCGATTTAAGGATGTTGC	0.368													---	40	---	---	15	---					
OTOGL	283310	broad.mit.edu	37	12	80747264	80747264	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:80747264delC	uc001szd.3	+	44	5546	c.5540delC	c.(5539-5541)gccfs	p.A1847fs	OTOGL_uc021rba.1_5'Flank|OTOGL_uc009zsg.2_5'Flank	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCACATTCAGCCCAGTGCATT	0.408													---	5	---	---	7	---					
ITGAX	3687	broad.mit.edu	37	16	31388365	31388365	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31388365delG	uc002ebt.3	+	21	2737	c.2670delG	c.(2668-2670)ctgfs	p.L890fs	ITGAX_uc002ebu.1_Frame_Shift_Del_p.L890fs	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	890					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGCTGTCCTGGGAGACCGGC	0.602													---	64	---	---	24	---					
STXBP2	6813	broad.mit.edu	37	19	7705879	7705879	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7705879delA	uc010xjr.2	+	5	497	c.452delA	c.(451-453)tacfs	p.Y151fs	STXBP2_uc002mha.4_Frame_Shift_Del_p.Y140fs|STXBP2_uc002mhb.4_Frame_Shift_Del_p.Y137fs|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_Frame_Shift_Del_p.Y301fs	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	140					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCTCCCCTACGAGGCCCAG	0.627													---	52	---	---	17	---					
OR7E24	26648	broad.mit.edu	37	19	9362720	9362721	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9362720_9362721insT	uc002mlb.1	+	0	1001_1002	c.1001_1002insT	c.(1000-1002)cctfs	p.P334fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCTCCATCCTTTTTGTTATA	0.441													---	15	---	---	23	---					
EPS8L1	54869	broad.mit.edu	37	19	55597515	55597515	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55597515delC	uc002qis.4	+	15	1709	c.1605delC	c.(1603-1605)tacfs	p.Y535fs	EPS8L1_uc010ess.1_Frame_Shift_Del_p.Y549fs|EPS8L1_uc010yfr.2_Frame_Shift_Del_p.Y471fs|EPS8L1_uc002qiu.3_Frame_Shift_Del_p.Y408fs|EPS8L1_uc002qiv.3_Frame_Shift_Del_p.Y213fs|EPS8L1_uc002qiw.3_Frame_Shift_Del_p.Y314fs	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	535	Pro-rich.|SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACACCCTACCCCGGACCCC	0.632													---	92	---	---	12	---					
