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
C10orf71	118461	broad.mit.edu	37	10	50531975	50531975	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:50531975G>A	uc021pqb.1	+	0	1385	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	C10orf71_uc021pqa.1_Missense_Mutation_p.S461N|C10orf71_uc021pqc.1_Missense_Mutation_p.S462N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	462										endometrium(1)	1						TCAGCAGACAGCCAGCCAGCA	0.537000														49			20		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30556550	30556550	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:30556550G>A	uc002wxe.3	+	0	746	c.572G>A	c.(571-573)gGc>gAc	p.G191D		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	191						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGCAGCTCGGCCAGGTCTGG	0.697000														4			10		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36121276	36121276	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:36121276G>A	uc003gsq.2	-	23	4297	c.3959C>T	c.(3958-3960)aCc>aTc	p.T1320I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1320					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						ACTCACTTGGGTGTCTTTCCA	0.289000														4			3		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53002199	53002199	+	Silent	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:53002199T>C	uc001sas.3	-	8	1439	c.1404A>G	c.(1402-1404)acA>acG	p.T468T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	468	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCAGCCCCTGTGCCTGCCA	0.617000														19			20		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120347258	120347258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:120347258G>A	uc003edw.3	-	13	1767	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	HGD_uc003edv.3_Missense_Mutation_p.P295L	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	436					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)		CCTGGAGTTGGGAGTGAAGTG	0.468000														43			19		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45697426	45697426	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:45697426G>A	uc003tne.4	+	5	1267	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ADCY1_uc003tnd.3_Missense_Mutation_p.D192N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	417					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.D417D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGCAGTACGACGTGTGGTC	0.617000														26			13		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48686246	48686246	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:48686246C>T	uc003cuf.1	-	19	6893	c.6893G>A	c.(6892-6894)cGa>cAa	p.R2298Q	CELSR3_uc010hkg.3_Missense_Mutation_p.R211Q|CELSR3_uc003cul.3_Missense_Mutation_p.R2228Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2228					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)		GGCAGTGACTCGAACATCTTG	0.602000														42			20		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183609333	183609333	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:183609333G>A	uc003ivd.1	+	10	2125	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	ODZ3_uc003ive.1_Missense_Mutation_p.D90N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	684	EGF-like 6.				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)		ATGTTCTGTGGACTGTGGCTC	0.547000														89			75		0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114458517	114458517	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:114458517C>G	uc003ibi.3	-	6	1356	c.497G>C	c.(496-498)gGg>gCg	p.G166A	CAMK2D_uc003ibj.3_Missense_Mutation_p.G166A|CAMK2D_uc003ibk.3_Missense_Mutation_p.G166A|CAMK2D_uc003ibo.4_Missense_Mutation_p.G166A|CAMK2D_uc003ibm.2_Missense_Mutation_p.G166A|CAMK2D_uc003ibn.2_Missense_Mutation_p.G166A|CAMK2D_uc003ibl.2_Missense_Mutation_p.G166A	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	166	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTGCTGGTCCCCTTGAACTTC	0.463000														14			12		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152464	71152464	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:71152464G>A	uc001oqk.3	-	5	685	c.435C>T	c.(433-435)atC>atT	p.I145I	DHCR7_uc001oql.3_Silent_p.I145I	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	145			I -> L (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCAGGCCATTGATCTGATACT	0.552000									Smith-Lemli-Opitz syndrome					12			12		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196796106	196796106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:196796106G>A	uc001gtn.3	+	2	515	c.401G>A	c.(400-402)tGg>tAg	p.W134*	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	134	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAACGGGGCTGGTCCACCCCT	0.388000														5			58		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152725406	152725406	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:152725406G>A	uc021zhb.1	-	43	6990	c.6767C>T	c.(6766-6768)tCc>tTc	p.S2256F	SYNE1_uc003qot.4_Missense_Mutation_p.S2263F|SYNE1_uc003qou.4_Missense_Mutation_p.S2256F|SYNE1_uc010kjb.1_Missense_Mutation_p.S2239F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2256					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)		ATTAACTTTGGAATGCAGTTC	0.338000										HNSCC(10;0.0054)				21			21		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	830930	830930	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:830930G>A	uc002lpz.1	+	3	599	c.583G>A	c.(583-585)Ggc>Agc	p.G195S		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	195	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGCGGTGGCATCTGCAA	0.637000														24			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679229	176679229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:176679229C>T	uc001gkz.3	+	10	4732	c.3568C>T	c.(3568-3570)Caa>Taa	p.Q1190*	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1190					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						ATACTTGGATCAATGGGCTAC	0.453000														14			39		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49219553	49219553	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:49219553G>A	uc001jgd.3	-	7	745	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TTGGCAGTGGGAGGAACACTG	0.517000														142			106		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18439842	18439842	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:18439842C>T	uc001rdt.3	+	2	856	c.740C>T	c.(739-741)tCt>tTt	p.S247F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S247F|PIK3C2G_uc010sic.2_Missense_Mutation_p.S25F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	247					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGTCTGGCCTCTTTTTGCAAC	0.308000														4			3		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4112532	4112532	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:4112532C>T	uc021qco.1	+	11	2448	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	STIM1_uc001lyv.2_Missense_Mutation_p.S521L|STIM1_uc009yef.2_Silent_p.F533F|STIM1_uc009yeg.2_Missense_Mutation_p.S348L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	613	Pro/Ser-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CATTCCGATTCGGAGTCCTCC	0.552000														73			69		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43843653	43843653	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr13:43843653C>T	uc001uza.4	-	12	1807	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	ENOX1_uc001uzc.4_Missense_Mutation_p.E503K|ENOX1_uc001uzb.4_Missense_Mutation_p.E503K	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	503					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GACTGCTCTTCCTTTGCTTGT	0.388000														25			42		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407799	407799	+	Splice_Site	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:407799G>T	uc003bot.3	+	15	2393	c.1751_splice	c.e15+1	p.R584_splice	CHL1_uc003bou.3_Splice_Site_p.R568_splice|CHL1_uc003bow.2_Splice_Site_p.R568_splice|CHL1_uc011asi.2_Splice_Site_p.R584_splice|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	568	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGATGGCAGGTAGGTAAACT	0.373000														7			13		1.15088e-07	1.15934e-07	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50939085	50939085	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:50939085C>T	uc002psf.2	+	2	213	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	54	Ig-like C2-type 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)		CCGGCGTTTTCCTGAAGAAGC	0.662000														5			7		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453303	226453303	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:226453303C>G	uc001hqa.2	-	9	1327	c.1017G>C	c.(1015-1017)tgG>tgC	p.W339C	LIN9_uc001hqb.2_Missense_Mutation_p.W304C|LIN9_uc001hqc.3_Missense_Mutation_p.W271C|LIN9_uc009xel.1_Missense_Mutation_p.W304C	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	323					DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTTACTTCTCCACGGCGACT	0.323000														74			25		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496381	52496381	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:52496381G>A	uc001wzo.3	-	9	2519	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L	NID2_uc010tqs.2_Missense_Mutation_p.P762L|NID2_uc010tqt.1_Missense_Mutation_p.P762L|NID2_uc001wzp.3_Missense_Mutation_p.P762L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	762	EGF-like 2.					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)					ATCATAGCAAGGATTCCCCGG	0.517000														26			15		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69125034	69125034	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:69125034G>A	uc001suf.3	+	20	1994	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.E598K	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	627					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTGGCTAAAGAAGCAGGTAA	0.378000														16			10		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55872980	55872980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:55872980C>T	uc003tqz.2	-	8	1207	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	364					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATGTTGCTTCTTTCTCCTTG	0.343000														13			9		0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110819677	110819677	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:110819677T>C	uc001tqo.2	-	7	1115	c.1114A>G	c.(1114-1116)Agt>Ggt	p.S372G	ANAPC7_uc001tqp.4_Missense_Mutation_p.S372G	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	372					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GCTTGAACACTATTACTGTTC	0.468000														14			15		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938434	67938434	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:67938434G>A	uc004dxb.3	+	5	1892	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	STARD8_uc004dxa.3_Missense_Mutation_p.D480N|STARD8_uc004dxc.4_Missense_Mutation_p.D480N	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	480					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						TGAACGGCGCGATTCAGGTGT	0.607000														0			15		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053707	120053707	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:120053707G>A	uc004bjt.2	-	1	629	c.528C>T	c.(526-528)tcC>tcT	p.S176S		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	176						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCTGCTCATGGAGACGTGGA	0.592000														57			32		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336845	12336845	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:12336845C>T	uc001atv.3	+	18	3341	c.3200C>T	c.(3199-3201)tCa>tTa	p.S1067L	VPS13D_uc001atw.3_Missense_Mutation_p.S1067L|VPS13D_uc001atx.3_Missense_Mutation_p.S255L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1067					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)		ACTAGTGTTTCACTTGACAAA	0.458000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			43		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084348	13084349	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:13084348_13084349CC>TT	uc002mwc.1	+	1	621_622	c.470_471CC>TT	c.(469-471)ccc>cTT	p.P157L	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	157	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CGTTGGGCACCCGTGGTCCTGT	0.589000														90			64		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60802443	60802443	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:60802443C>T	uc010dds.3	-	7	2359	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	MARCH10_uc010ddr.3_Missense_Mutation_p.E654K|MARCH10_uc002jag.4_Missense_Mutation_p.E654K|MARCH10_uc002jah.2_Missense_Mutation_p.E653K|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	654							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTCCCTCCTCCTCGGAGTCC	0.552000														33			10		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5442921	5442921	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:5442921C>T	uc001ihy.3	-	1	171	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	TUBAL3_uc001ihz.3_Missense_Mutation_p.E5K	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	45					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTTGCATTTTCCAGCTGATCC	0.493000														77			54		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962490	129962490	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:129962490G>A	uc003vpr.3	+	10	1287	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CPA4_uc011kpd.2_Missense_Mutation_p.E381K|CPA4_uc011kpe.2_Missense_Mutation_p.E310K	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	414					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GACCATCATGGAGCATGTGCG	0.532000														71			51		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546423	11546423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:11546423G>A	uc010shk.1	-	2	624	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.597000														134			85		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432786	432786	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:432786A>C	uc003bot.3	+	21	3377	c.2735A>C	c.(2734-2736)aAc>aCc	p.N912T	CHL1_uc003bou.3_Missense_Mutation_p.N896T|CHL1_uc003bow.2_Missense_Mutation_p.N896T|CHL1_uc011asi.2_Missense_Mutation_p.N912T	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	896					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.N912D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTAGCCTATAACTCTAAAGGA	0.373000														21			14		0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5836878	5836878	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:5836878G>A	uc009xid.3	-	4	732	c.370C>T	c.(370-372)Cct>Tct	p.P124S	GDI2_uc001iil.4_Missense_Mutation_p.P120S|GDI2_uc001iim.4_Intron			P50395	GDIB_HUMAN	Homo sapiens GDP dissociation inhibitor 2 (GDI2), transcript variant 1, mRNA.	120					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	Rab GDP-dissociation inhibitor activity|protein binding			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TCAGTGGAAGGAACCTTGTAG	0.368000														16			17		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778951	159778951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:159778951G>A	uc001fud.4	+	3	562	c.520G>A	c.(520-522)Gac>Aac	p.D174N	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.D181N|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Missense_Mutation_p.D174N	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	174	Ig-like C2-type 2.					integral to membrane		p.G173R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAAGGAGGGAGACTCTGGGCT	0.627000														26			62		0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154403031	154403031	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:154403031C>T	uc001fez.2	+	2	844	c.407C>T	c.(406-408)cCt>cTt	p.P136L	IL6R_uc021paf.1_Missense_Mutation_p.P136L|IL6R_uc001ffa.2_Missense_Mutation_p.P136L	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	136					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGTGGGGTCCTCGGAGCACC	0.572000														20			62		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4626315	4626315	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:4626315G>A	uc001qms.3	-	8	1162	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	C12orf4_uc001qmt.3_Silent_p.F358F	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	358										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CAATTCGGGGGAAATGGAAGT	0.383000														34			16		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135517079	135517079	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:135517079C>T	uc003qfh.3	+	8	1341	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.T381I|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Missense_Mutation_p.T7I|MYB_uc003qfw.3_Missense_Mutation_p.T193I|MYB_uc010kgi.3_Missense_Mutation_p.T381I|MYB_uc003qfq.3_Missense_Mutation_p.T378I|MYB_uc010kgj.3_Missense_Mutation_p.T346I|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Missense_Mutation_p.T378I|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Intron|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Missense_Mutation_p.T381I|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Intron|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.T381I|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	381	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CACCAGGGCACCATTCTGGAT	0.473000			T	NFIB	adenoid cystic carcinoma									14			11		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772727	5772727	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:5772727C>T	uc003zjl.4	+	22	3860	c.3669C>T	c.(3667-3669)tcC>tcT	p.S1223S	KIAA1432_uc003zji.3_Silent_p.S1181S	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1260						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTCATAAATCCCAGGTCCAGC	0.438000														15			5		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064402	30064402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:30064402C>T	uc002wwa.3	+	1	438	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	52					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATCAGCCTCCCTCAACCCTCC	0.637000														46			23		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73815826	73815826	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:73815826C>T	uc002jpm.3	+	12	1836	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	UNK_uc021udd.1_Silent_p.F536F	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	536							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAGACTTTCGATAACAGCA	0.602000														80			38		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092774	53092774	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:53092774C>T	uc003xqz.2	-	3	341	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R27Q|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.R62Q|ST18_uc003xrb.2_Missense_Mutation_p.R62Q|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R62R(1)|p.P61P(1)		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)				GCTGTAGTGTCGGGGCTTCAT	0.517000														40			30		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480947	57480947	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:57480947C>A	uc009vzx.1	-	11	1373	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	DAB1_uc001cyt.1_Missense_Mutation_p.Q349H|DAB1_uc001cyq.1_Missense_Mutation_p.Q349H|DAB1_uc001cyr.1_Missense_Mutation_p.Q265H|DAB1_uc009vzw.1_Missense_Mutation_p.Q333H|DAB1_uc001cys.1_Missense_Mutation_p.Q351H	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	384					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						GCCAGGGCTGCTGAGTGGCAG	0.632000														48			50		2.43698e-19	2.49154e-19	1	1	0
FRMD5	84978	broad.mit.edu	37	15	44166495	44166495	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:44166495G>A	uc001ztl.3	-	13	1478	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	FRMD5_uc001ztj.1_Missense_Mutation_p.P107L|FRMD5_uc001ztk.1_Missense_Mutation_p.P340L|FRMD5_uc010uef.2_Missense_Mutation_p.P107L|FRMD5_uc001ztm.3_Missense_Mutation_p.P107L|FRMD5_uc001ztn.3_Missense_Mutation_p.P200L	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	434						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTCAGCCACAGGGGTGGGCAG	0.587000														32			30		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256530	+	Missense_Mutation	DNP	TG	CT	CT	rs121913254		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:115256529_115256530TG>CT	uc009wgu.3	-	2	435_436	c.181_182CA>AG	c.(181-183)caa>AGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(1229)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGTA	0.460000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)|Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				126			74		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029486	71029486	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:71029486C>T	uc001swc.4	-	1	461	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PTPRB_uc001swa.4_Missense_Mutation_p.G139E|PTPRB_uc001swd.4_Missense_Mutation_p.G138E|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.G139E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				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)			GACCAGTTTTCCCTCCTTGTT	0.413000														7			7		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511518	24511518	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:24511518C>T	uc003jgr.2	-	5	1426	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	307	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAATAATTCGGTATTCTAC	0.438000										HNSCC(23;0.051)				63			50		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052594	17052594	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:17052594G>A	uc011awc.2	+	2	1828	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	PLCL2_uc011awd.2_Missense_Mutation_p.E460K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	586					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						TGTTACTGACGAAGATGAAGG	0.423000														10			14		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095681	145095681	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:145095681A>C	uc011lkw.2	+	2	1081	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	SPATC1_uc011lkx.2_Missense_Mutation_p.T327P	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	327										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)			cacctcccccaccacctcccc	0.667000														37			3		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38151929	38151929	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr13:38151929G>A	uc001uwo.4	-	15	2087	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	POSTN_uc010tet.2_Missense_Mutation_p.R185C|POSTN_uc001uwp.4_Missense_Mutation_p.R657C|POSTN_uc001uwr.3_Missense_Mutation_p.R657C|POSTN_uc001uwq.3_Missense_Mutation_p.R657C|POSTN_uc010teu.1_Missense_Mutation_p.R657C|POSTN_uc010tev.1_Missense_Mutation_p.R657C|POSTN_uc010tew.1_Missense_Mutation_p.R657C	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	657					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)		GTGCTACCACGAACAAACTGA	0.318000														19			11		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345372	119345372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:119345372G>A	uc003pyj.3	-	1	1114	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	FAM184A_uc003pyk.4_Nonsense_Mutation_p.Q136*|FAM184A_uc003pyl.4_Nonsense_Mutation_p.Q136*	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	256										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TAAAAGGACTGAGCTTTATTC	0.403000														9			9		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55038515	55038515	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:55038515G>A	uc001sgj.3	-	4	377	c.315C>T	c.(313-315)gtC>gtT	p.V105V	DCD_uc009znt.3_3'UTR|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	105					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CTGAGTCAAGGACGTCTTTAA	0.433000														6			5		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41743232	41743232	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:41743232G>A	uc003orc.1	-	3	422	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	60	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.L60L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCAAGCAGAGATAAGGCCAG	0.637000														12			33		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411922	94411922	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:94411922C>T	uc011cdt.2	+	11	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_uc011cdu.2_Missense_Mutation_p.S569F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	664					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGAAAGTTCCATCCAGTAA	0.393000														3			4		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146678764	146678764	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:146678764C>T	uc010khw.1	+	5	2006	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	GRM1_uc010khv.1_Silent_p.I512I|GRM1_uc003qll.2_Silent_p.I512I|GRM1_uc011edz.1_Silent_p.I512I|GRM1_uc011eea.1_Silent_p.I512I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	512					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATTACAAAATCCAGATGAACA	0.443000														33			22		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121038780	121038780	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:121038780C>T	uc010rzo.2	+	17	5604	c.5604C>T	c.(5602-5604)atC>atT	p.I1868I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1868	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)		GCACGCATATCATGTATAAAA	0.448000														4			36		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876342	74876343	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:74876342_74876343CC>TT	uc001xpx.2	-	1	353_354	c.105_106GG>AA	c.(103-108)caggaa>caAAaa	p.E36K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	36					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						TAGAGCTTTTCCTGGCAGGACC	0.663000														26			17		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138739986	138739986	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:138739986C>T	uc003vun.3	-	9	2540	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	718	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAAAAGTCCTCCTGAGGACGA	0.403000														58			45		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884600	228884600	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:228884600G>A	uc002vpq.2	-	6	1017	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.H324Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H324Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	324						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)		GCTTCTGAATGATAATAATGT	0.413000														106			39		0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9994467	9994467	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:9994467G>A	uc021qux.1	+	3	458	c.394G>A	c.(394-396)Gag>Aag	p.E132K	KLRF1_uc001qwm.3_Intron|KLRF1_uc009zgy.3_Intron|KLRF1_uc009zgz.3_Intron|KLRF1_uc009zha.3_Intron|KLRF1_uc009zgw.3_Missense_Mutation_p.E82K|KLRF1_uc009zgx.3_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA.	132	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GTTCTCTAATGAGATGAAAAG	0.328000														9			4		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517229	195517229	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:195517229C>T	uc021xjp.1	-	1	1378	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E290K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	413					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGTCTCCTCTGTGTTTCCA	0.463000														79			28		0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26441071	26441071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:26441071C>T	uc010oew.2	+	1	545	c.272C>T	c.(271-273)tCc>tTc	p.S91F	PDIK1L_uc001blj.4_Missense_Mutation_p.S91F|PDIK1L_uc009vsb.3_Missense_Mutation_p.S91F	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	91	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|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;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TCTAATTCTTCCCTTTATTTA	0.423000														33			16		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71050488	71050488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:71050488C>T	uc001swi.2	-	12	2290	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.D381N|PTPRR_uc009zrs.3_Missense_Mutation_p.D420N|PTPRR_uc010stq.2_Missense_Mutation_p.D514N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	626	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTCACCTATCCATACGAAGC	0.468000														22			18		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78433748	78433748	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:78433748G>A	uc001ozl.4	-	23	4228	c.3765C>T	c.(3763-3765)ttC>ttT	p.F1255F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1255					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTCCAGAGGGGAAGATCCTTC	0.517000														102			39		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710379	71710379	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:71710379G>A	uc002fax.3	-	7	1448	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S481F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	481						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						GGTCCGAAGGGAAAAGCCACT	0.498000														23			18		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87726520	87726520	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:87726520C>T	uc003hpz.3	+	43	7223	c.6743C>T	c.(6742-6744)cCc>cTc	p.P2248L	PTPN13_uc003hpy.3_Missense_Mutation_p.P2253L|PTPN13_uc003hqa.3_Missense_Mutation_p.P2229L|PTPN13_uc003hqb.3_Missense_Mutation_p.P2057L|PTPN13_uc003hqc.1_Missense_Mutation_p.P614L	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.	2248	Tyrosine-protein phosphatase.					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)		AATATACTTCCCTGTAAGTTC	0.308000														3			5		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569054	61569054	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr18:61569054G>A	uc010xeu.2	+	6	949	c.616G>A	c.(616-618)Gga>Aga	p.G206R	SERPINB2_uc002ljo.3_Missense_Mutation_p.G206R|SERPINB2_uc002ljp.1_Missense_Mutation_p.G11R|SERPINB2_uc002ljq.1_Missense_Mutation_p.G11R	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	206					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G206E(1)		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)	CTACTTCAAAGGAAAGTGGAA	0.383000														5			4		0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627401	37627401	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr22:37627401G>A	uc003arc.3	-	4	435	c.318C>T	c.(316-318)ccC>ccT	p.P106P		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	106					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	p.P106H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGGGTGTGCTGGGGCAGTGGT	0.622000														34			28		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932382	110932382	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:110932382G>A	uc003hzy.4	+	23	3847	c.3395G>A	c.(3394-3396)aGg>aAg	p.R1132K	EGF_uc011cfu.2_Missense_Mutation_p.R1090K|EGF_uc011cfv.2_Missense_Mutation_p.R1091K|EGF_uc010imk.3_Missense_Mutation_p.G254S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1132					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACTTCATGGAGGCAGGAGCCC	0.448000														20			26		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661338	44661338	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:44661338A>T	uc002oym.3	+	5	1476	c.1169A>T	c.(1168-1170)cAt>cTt	p.H390L	ZNF234_uc002oyl.4_Missense_Mutation_p.H390L	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTTCAGGCCCATCAGGGAGTC	0.438000														16			7		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377503	113377503	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:113377503G>A	uc003eam.3	-	6	3437	c.3026C>T	c.(3025-3027)tCt>tTt	p.S1009F	KIAA2018_uc003eal.3_Missense_Mutation_p.S953F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1009					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						AGCAAGATCAGATAGCAATGT	0.363000														24			27		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491048	100491048	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:100491048G>A	uc003uxd.3	-	0	962	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ACHE_uc003uxe.3_Missense_Mutation_p.T269M|ACHE_uc003uxf.3_Missense_Mutation_p.T269M|ACHE_uc003uxg.3_Missense_Mutation_p.T269M|ACHE_uc003uxh.3_Missense_Mutation_p.T269M|ACHE_uc003uxi.3_Missense_Mutation_p.T269M|ACHE_uc003uxj.1_Missense_Mutation_p.T388M	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	269					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CATGCCCACCGTGGCCCAGGG	0.716000														9			9		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909048	64909048	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:64909048C>T	uc001xhb.3	+	20	2451	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S	MTHFD1_uc010aqf.3_Silent_p.S744S	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	688	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)	GCCGGTATTCCGGCCTCTGCC	0.507000														43			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:22473085C>A	uc001yuj.2	-	6		c.243G>T								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGGGGCT	0.572000														48			18		2.94398e-08	2.97292e-08	1	1	0
SPEN	23013	broad.mit.edu	37	1	16260038	16260038	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:16260038C>T	uc001axk.1	+	10	7507	c.7303C>T	c.(7303-7305)Ccc>Tcc	p.P2435S	SPEN_uc010obp.1_Missense_Mutation_p.P2394S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2435	Interaction with MSX2 (By similarity).|Pro-rich.|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCCCACCTCCCCAGCCAGC	0.567000														13			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647630	152647630	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:152647630G>A	uc021zhb.1	-	76	15317	c.15094C>T	c.(15094-15096)Ctc>Ttc	p.L5032F	SYNE1_uc003qot.4_Missense_Mutation_p.L4961F|SYNE1_uc003qou.4_Missense_Mutation_p.L5032F|SYNE1_uc010kiz.3_Missense_Mutation_p.L787F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5032					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)		TGGCTTTTGAGATTTTCCTCT	0.502000										HNSCC(10;0.0054)				27			20		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368625	27368625	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:27368625A>C	uc003njf.1	+	2	994	c.476A>C	c.(475-477)cAc>cCc	p.H159P	ZNF391_uc021ypw.1_Missense_Mutation_p.H159P	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CAAAGAACTCACACTGGAGAG	0.398000														258			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228529149	228529149	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:228529149C>T	uc009xez.1	+	73	17912	c.17868C>T	c.(17866-17868)atC>atT	p.I5956I	OBSCN_uc001hsn.3_Silent_p.I5956I|OBSCN_uc001hsr.1_Silent_p.I585I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5956	PH.				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)				TGAGCAGCATCGACCTGAACG	0.647000														14			54		0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82708292	82708292	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:82708292T>A	uc001ozu.3	-	2	328	c.67A>T	c.(67-69)Acg>Tcg	p.T23S	RAB30_uc009yve.3_Missense_Mutation_p.T21S|RAB30_uc010rst.2_Missense_Mutation_p.T23S|RAB30_uc001ozv.3_Missense_Mutation_p.T21S|RAB30_uc009yvg.1_Missense_Mutation_p.T21S	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	23					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	p.T23M(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACGAGGCACGTCTTCCCCACA	0.483000														35			18		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670158	133670158	+	Missense_Mutation	SNP	C	T	T	rs35799156		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:133670158C>T	uc003eqa.4	-	5	1029	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.R84Q	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	252					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						TCCAATCCATCGGGGGTCACC	0.478000														31			21		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135158747	135158747	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:135158747G>A	uc004cbk.3	-	18	6633	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	SETX_uc004cbj.3_Silent_p.I1769I|SETX_uc010mzt.3_Silent_p.I1769I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2150					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAGCAGATGATATGGGACT	0.453000														67			52		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8469678	8469678	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:8469678C>T	uc003glg.2	+	8	1550	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	METTL19_uc003glf.1_Missense_Mutation_p.S270F|METTL19_uc003glh.1_Missense_Mutation_p.S119F	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	511					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						TACCCTTCCTCCAGAGAAGCT	0.507000														37			34		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161833035	161833035	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:161833035G>C	uc001gbs.3	+	13	1769	c.1652G>C	c.(1651-1653)aGt>aCt	p.S551T	ATF6_uc001gbq.2_Missense_Mutation_p.S551T	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	551					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)			TCACCCAGAAGTTATCAAGAC	0.353000														126			36		0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36612445	36612445	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:36612445C>T	uc002odg.1	+	3	947	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	124					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCTCTTTCCTGAAGCGCA	0.697000														6			4		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189253	53189253	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:53189253C>G	uc001say.3	-	0	640	c.574G>C	c.(574-576)Ggg>Cgg	p.G192R		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	192	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						TTTACTTGCCCAATCTGGGGG	0.532000														51			47		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671687	39671687	+	Silent	SNP	C	T	T	rs140458855		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr21:39671687C>T	uc021wjc.1	+	0	504	c.504C>T	c.(502-504)atC>atT	p.I168I	KCNJ15_uc002ywv.3_Silent_p.I168I|KCNJ15_uc002yww.3_Silent_p.I168I|KCNJ15_uc002ywx.3_Silent_p.I168I	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	168					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.I168I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGGCCAAAATCGCCAGACCCA	0.502000														31			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871727	13871727	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:13871727C>T	uc003jfd.2	-	22	3586	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1182	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)					GCATTAATTTCCTGCTCTAGG	0.373000									Kartagener syndrome					23			7		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988650	134988650	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:134988650C>T	uc004ezh.3	+	6	843	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_uc010nry.1_Nonsense_Mutation_p.R195*|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	226										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)					GTTGACTCTTCGACCACGGCG	0.428000														54			40		0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513698	50513698	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:50513698A>C	uc003tpd.3	-	3	1658	c.1288T>G	c.(1288-1290)Tta>Gta	p.L430V	FIGNL1_uc003tpb.3_Missense_Mutation_p.L319V|FIGNL1_uc003tpc.3_Missense_Mutation_p.L430V|FIGNL1_uc003tpe.3_Missense_Mutation_p.L430V|FIGNL1_uc010kyy.3_Missense_Mutation_p.L430V|FIGNL1_uc022ada.1_Missense_Mutation_p.L430V	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	430					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GGTCCCCTTAAACCAGTAAAG	0.443000														25			20		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68242764	68242764	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:68242764G>A	uc001xka.2	-	25	5173	c.5034C>T	c.(5032-5034)ccC>ccT	p.P1678P	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.P1678P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1678					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCATGAACAGGGGGTTAGAGG	0.527000														74			53		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147813044	147813044	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:147813044C>T	uc003lpf.1	+	15	2831	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	FBXO38_uc003lpg.1_Missense_Mutation_p.S829F|FBXO38_uc003lph.2_Missense_Mutation_p.S659F	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	904						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATAAATCCACTAGTACA	0.413000														4			54		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814357	214814357	+	Silent	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:214814357T>C	uc001hkm.3	+	11	2850	c.2676T>C	c.(2674-2676)acT>acC	p.T892T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	892					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)		AGGAAGACACTTCTGCTCACC	0.398000														57			17		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096194	124096194	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:124096194G>A	uc010saf.2	+	0	797	c.797G>A	c.(796-798)gGg>gAg	p.G266E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	266						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTTTCTTTGGGTCTGCAGCA	0.507000														4			32		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148498	41148498	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:41148498G>T	uc001zna.3	+	9	1565	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	SPINT1_uc001znb.3_Missense_Mutation_p.R438L|SPINT1_uc001znc.3_Missense_Mutation_p.R438L|SPINT1_uc010ucs.2_Missense_Mutation_p.R445L	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	454						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCCTGAGGCGGGAAATCCCC	0.537000														77			58		1.37693e-34	1.4148e-34	1	1	0
C17orf57	124989	broad.mit.edu	37	17	45490198	45490198	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:45490198G>A	uc002iln.3	+	21	2769	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	C17orf57_uc002ilm.3_Missense_Mutation_p.D684N	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	780	EF-hand 4.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TGGTATACCTGATTTGGAGCA	0.358000														17			15		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902877	75902877	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:75902877C>T	uc001oxe.3	-	3	744	c.621G>A	c.(619-621)atG>atA	p.M207I	WNT11_uc001oxf.1_Missense_Mutation_p.M207I	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	207					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						ACTTACACTTCATTTCCAGAG	0.662000														41			16		0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115064450	115064450	+	Missense_Mutation	SNP	G	A	A	rs139333511	byFrequency	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr13:115064450G>A	uc001vup.3	+	7	1038	c.982G>A	c.(982-984)Ggc>Agc	p.G328S	UPF3A_uc001vuq.3_Missense_Mutation_p.G295S|UPF3A_uc001vur.3_Intron|UPF3A_uc001vut.3_Missense_Mutation_p.G127S|UPF3A_uc001vuu.3_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	328					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCCCATGGAAGGCTCGCTGGA	0.542000														10			16		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848073	215848073	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:215848073C>T	uc001hku.1	-	62	13567	c.13180G>A	c.(13180-13182)Gat>Aat	p.D4394N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4394	Fibronectin type-III 29.				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)		TCTTTATTATCATATCTAACT	0.478000										HNSCC(13;0.011)				8			29		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233060	55233060	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:55233060A>G	uc003tqk.3	+	14	2056	c.1810A>G	c.(1810-1812)Aac>Gac	p.N604D	EGFR_uc003tqi.3_Missense_Mutation_p.N604D|EGFR_uc003tqj.3_Missense_Mutation_p.N604D|EGFR_uc022adm.1_Missense_Mutation_p.N604D|EGFR_uc010kzg.2_Missense_Mutation_p.N559D|EGFR_uc022adn.1_Missense_Mutation_p.N559D|EGFR_uc011kco.2_Missense_Mutation_p.N551D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	604					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)	GGGAGAAAACAACACCCTGGT	0.572000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				50			32		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3107189	3107189	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:3107189G>A	uc002cth.3	+	4	1054	c.817G>A	c.(817-819)Gat>Aat	p.D273N	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	273					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GGATGACCGCGATGGCCTGCA	0.642000														233			77		0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178272600	178272600	+	Silent	SNP	C	T	T	rs138744063		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:178272600C>T	uc003iut.2	+	6	1053	c.936C>T	c.(934-936)tcC>tcT	p.S312S	NEIL3_uc010irs.3_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	312					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.S312S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTATGGACTCCGTGGCTCGGA	0.413000								Base excision repair (BER), DNA glycosylases						59			43		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560757	1560757	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:1560757C>T	uc001agg.3	+	6	1203	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	MIB2_uc001agh.3_Silent_p.V372V|MIB2_uc001agi.3_Silent_p.V386V|MIB2_uc001agj.3_Silent_p.V170V|MIB2_uc001agk.3_Silent_p.V321V|MIB2_uc001agl.2_Silent_p.V285V|MIB2_uc001agm.3_Silent_p.V206V|MIB2_uc010nyq.2_Silent_p.V285V|MIB2_uc009vkh.3_Silent_p.V170V|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	329					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACACTGATGTCCTGCGGGAGA	0.697000														10			5		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525857	248525857	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:248525857G>A	uc001ieh.1	+	0	975	c.975G>A	c.(973-975)agG>agA	p.R325R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	325					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ATAGTCTTAGGAATAAGGATG	0.433000														87			19		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763774	56763774	+	Missense_Mutation	SNP	C	T	T	rs138009911		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:56763774C>T	uc001xch.3	+	5	1439	c.1153C>T	c.(1153-1155)Ccg>Tcg	p.P385S		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	385					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.P385Q(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTCTCAGATCCCGTTGCCTCA	0.498000														48			42		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095139	167095139	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:167095139G>A	uc001geb.1	+	4	787	c.771G>A	c.(769-771)aaG>aaA	p.K257K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	257	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGTGCGTAAGAAGCGGGCCA	0.582000														88			27		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541525	55541525	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:55541525G>A	uc003xsd.1	+	3	5231	c.5083G>A	c.(5083-5085)Gaa>Aaa	p.E1695K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1695					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)			TATGTTGCAGGAATTCCAGGA	0.403000														41			36		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829256	115829256	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:115829256G>A	uc021osd.1	-	0	161	c.161C>T	c.(160-162)gCc>gTc	p.A54V	NGF_uc001efu.1_Missense_Mutation_p.A54V	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	54					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	p.A54T(1)		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)	CGCTGCCGGGGCGCTGCGGGC	0.622000														3			23		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170783999	170783999	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:170783999A>T	uc003fhh.2	-	31	4321	c.3976T>A	c.(3976-3978)Ttt>Att	p.F1326I	TNIK_uc003fhi.2_Missense_Mutation_p.F1271I|TNIK_uc003fhj.2_Missense_Mutation_p.F1297I|TNIK_uc003fhk.2_Missense_Mutation_p.F1318I|TNIK_uc003fhl.2_Missense_Mutation_p.F1242I|TNIK_uc003fhm.2_Missense_Mutation_p.F1263I|TNIK_uc003fhn.2_Missense_Mutation_p.F1289I|TNIK_uc003fho.2_Missense_Mutation_p.F1234I|TNIK_uc003fhg.2_Missense_Mutation_p.F504I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1326	CNH.				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)			TCACATAGAAACTTTAACCTT	0.398000														25			13		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62288660	62288660	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:62288660C>T	uc001dab.3	+	14	1841	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	INADL_uc009waf.1_Missense_Mutation_p.S576F|INADL_uc001daa.2_Missense_Mutation_p.S576F|INADL_uc001dad.3_Missense_Mutation_p.S273F|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	576	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAGTGGATTCCTTTGATGGG	0.428000														85			63		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68518091	68518091	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:68518091G>A	uc001ooc.3	-	1	178	c.38C>T	c.(37-39)cCc>cTc	p.P13L	MTL5_uc001ood.1_Missense_Mutation_p.P13L|MTL5_uc009ysi.1_Missense_Mutation_p.P13L|MTL5_uc001ooe.3_Missense_Mutation_p.P13L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	13					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGCATCCTCGGGGCTGGGCAG	0.711000														44			11		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17396660	17396660	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:17396660C>T	uc001baf.3	-	14	1769	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	PADI2_uc010ocm.2_Missense_Mutation_p.E447K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	563					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGTCCTGCTCTGTCAGTCCC	0.592000														80			86		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322038	18322038	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:18322038C>T	uc010xqc.2	-	14	2320	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N	PDE4C_uc002nik.4_Missense_Mutation_p.D614N|PDE4C_uc002nil.4_Missense_Mutation_p.D614N|PDE4C_uc002nig.4_Missense_Mutation_p.D329N|PDE4C_uc002nih.4_Missense_Mutation_p.D384N|PDE4C_uc010ebk.3_Missense_Mutation_p.D508N|PDE4C_uc002nii.4_Missense_Mutation_p.D582N|PDE4C_uc002nif.4_Missense_Mutation_p.D383N|PDE4C_uc010ebl.3_Missense_Mutation_p.D328N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	614					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGACCAGGTCAGCCCAAGTC	0.577000														36			26		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619168	57619168	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:57619168C>T	uc010srf.2	+	1	740	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	189	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GCTTCCTGGGCTGGGGCCCCC	0.761000														42			27		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645169	100645169	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:100645169C>T	uc003dun.3	-	1	342	c.257G>A	c.(256-258)gGg>gAg	p.G86E	ABI3BP_uc003duo.2_Missense_Mutation_p.G79E|ABI3BP_uc003dup.4_Missense_Mutation_p.G79E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	86						extracellular space		p.G86R(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTGAATTTCCCTTCAGCGGG	0.473000														11			16		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126202651	126202651	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:126202651G>A	uc011lzm.1	-	16	1594	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	DENND1A_uc011lzl.1_Silent_p.V267V|DENND1A_uc004bny.1_Silent_p.V231V|DENND1A_uc004bnz.1_Silent_p.V492V|DENND1A_uc004boa.1_Silent_p.V492V|DENND1A_uc004bob.1_Silent_p.V462V|DENND1A_uc004boc.3_Silent_p.V460V|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	492						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						GTCCAAAGTGGACTGTGATTG	0.542000														17			16		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														8			4		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133827288	133827288	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:133827288G>A	uc011ecs.2	+	13	1570	c.1254G>A	c.(1252-1254)atG>atA	p.M418I	EYA4_uc011ecq.2_Missense_Mutation_p.M358I|EYA4_uc011ecr.2_Missense_Mutation_p.M364I|EYA4_uc003qec.4_Missense_Mutation_p.M412I|EYA4_uc003qed.4_Missense_Mutation_p.M412I|EYA4_uc003qee.4_Missense_Mutation_p.M389I|BC041459_uc003qef.1_Non-coding_Transcript|BC041459_uc003qeg.1_Non-coding_Transcript	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	412					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGAAGAAATGATTTTTAATC	0.353000														15			14		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406065	85406065	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:85406065C>T	uc002ble.3	+	9	5102	c.4935C>T	c.(4933-4935)atC>atT	p.I1645I	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1645	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)			GCACGTGCATCATCAAGGTGT	0.582000														26			43		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445046	85445046	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:85445046A>C	uc010rth.2	-	5	1712	c.1323T>G	c.(1321-1323)aaT>aaG	p.N441K	SYTL2_uc010rtg.2_Missense_Mutation_p.N442K|SYTL2_uc010rti.2_Missense_Mutation_p.N441K|SYTL2_uc010rtj.2_Missense_Mutation_p.N393K|SYTL2_uc001pbf.4_Missense_Mutation_p.N441K|SYTL2_uc010rtf.2_Missense_Mutation_p.N299K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	441					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTTGGGTTCATTGATGGTTG	0.383000														139			31		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334293	175334293	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:175334293C>T	uc001gkp.1	-	9	2521	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	TNR_uc009wwu.1_Missense_Mutation_p.E814K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	814	Fibronectin type-III 6.				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)					ATCTCTTCCTCCTCATCCCTG	0.527000														13			46		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18507119	18507119	+	Missense_Mutation	SNP	C	T	T	rs111758941		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:18507119C>T	uc002wra.2	+	7	1398	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	SEC23B_uc010zsb.2_Missense_Mutation_p.R295C|SEC23B_uc002wrb.2_Missense_Mutation_p.R313C|SEC23B_uc002wqz.2_Missense_Mutation_p.R313C|SEC23B_uc002wrc.2_Missense_Mutation_p.R313C	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GATTCCTATTCGTTCTTGGCA	0.458000														35			18		0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901852	50901852	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:50901852C>T	uc001jid.1	+	1	190	c.130C>T	c.(130-132)Cta>Tta	p.L44L	CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jib.3_Silent_p.L44L|C10orf53_uc001jic.1_Silent_p.L44L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	44										endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGAGGTCATCCTAGAGAAGAT	0.468000														24			28		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842491	150842491	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:150842491C>T	uc004fev.4	+	14	2340	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	670						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)					TTCCAGCATTCCTCAGTTTCC	0.488000														6			44		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462039	50462039	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:50462039C>T	uc010ybh.2	-	6	1315	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	SIGLEC11_uc010ybi.2_Silent_p.Q408Q	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	408	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGCCCACGGTCTGTCCCCACC	0.682000														32			33		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962128	10962128	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:10962128G>A	uc001qyx.3	-	0	640	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	183					sensory perception of taste	integral to membrane	taste receptor activity	p.L183Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCAGGTTCAGGGTTAACTGT	0.393000														3			3		0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31234118	31234118	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:31234118T>C	uc001zfh.1	-	15	1987	c.1889A>G	c.(1888-1890)tAt>tGt	p.Y630C	FAN1_uc001zff.3_3'UTR|FAN1_uc001zfe.3_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.Y44C|MTMR10_uc001zfg.1_Missense_Mutation_p.Y211C|MTMR10_uc010azx.1_Missense_Mutation_p.Y382C|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	630	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTCTCTAAAATACTGCTCCGT	0.448000														112			84		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113847637	113847637	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:113847637C>T	uc003ebd.2	-	7	1552	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	DRD3_uc010hqn.1_Missense_Mutation_p.A377T|DRD3_uc003ebb.1_Missense_Mutation_p.A344T|DRD3_uc003ebc.1_Missense_Mutation_p.A377T	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	377					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGGTTGAGGGCGCTATTCACG	0.527000														319			18		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650843	93650844	+	Missense_Mutation	DNP	GG	AC	AC	rs149469439	by1000genomes	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:93650843_93650844GG>AC	uc004aqz.3	+	12	1974_1975	c.1769_1770GG>AC	c.(1768-1770)cgg>cAC	p.R590H	SYK_uc004ara.3_Missense_Mutation_p.R567H|SYK_uc004arb.3_Missense_Mutation_p.R567H|SYK_uc004arc.3_Missense_Mutation_p.R590H|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.	590	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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAAGGAGAGCGGATGGGGTGCC	0.436000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									12			9		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609453	105609453	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:105609453A>T	uc003prb.3	-	1	734	c.332T>A	c.(331-333)tTg>tAg	p.L111*	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	111						integral to membrane		p.L111L(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGAGCTGTACAACACTTGGAA	0.423000														144			113		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66833507	66833507	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:66833507A>G	uc001dcn.3	+	13	1704	c.1513A>G	c.(1513-1515)Aca>Gca	p.T505A	PDE4B_uc009war.3_Missense_Mutation_p.T413A|PDE4B_uc001dco.3_Missense_Mutation_p.T505A|PDE4B_uc001dcp.3_Missense_Mutation_p.T490A|PDE4B_uc001dcq.3_Missense_Mutation_p.T333A|PDE4B_uc009was.3_Missense_Mutation_p.T272A	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	505					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCAGCGTCAGACACTCAGGAA	0.408000														24			30		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11462314	11462314	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:11462314G>A	uc001qzf.1	-	1	124	c.90C>T	c.(88-90)ttC>ttT	p.F30F	PRB4_uc001qzt.3_Silent_p.F30F	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	30						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGATATTAGGAAGAGAGATT	0.383000										HNSCC(22;0.051)				69			50		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414010	22414010	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:22414010G>A	uc001yuf.3	+	0	549	c.309G>A	c.(307-309)caG>caA	p.Q103Q	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ATGTCCGACAGGTCATCAAGC	0.512000														31			23		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26594983	26594983	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:26594983C>T	uc001bls.1	+	7	1482	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	CEP85_uc001blr.3_Missense_Mutation_p.R451C|CEP85_uc010ofa.1_Missense_Mutation_p.R400C|CEP85_uc001blt.1_5'Flank	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	451						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGTCAAAGGTCGTGATAAACA	0.473000														30			19		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658630	97658630	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:97658630C>T	uc001drv.3	-	19	2754	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	873					'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)	CATACCTTGTCCATGAGTTCA	0.413000														15			10		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92091189	92091189	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:92091189G>A	uc001xzs.1	-	17	2045	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V	CATSPERB_uc010aub.1_Silent_p.V157V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	635					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)				TGAGTTTATAGACATTTCCAG	0.323000														11			8		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192914	44192914	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:44192914G>A	uc003tkl.2	-	1	664	c.194C>T	c.(193-195)aCc>aTc	p.T65I	GCK_uc003tkj.1_Missense_Mutation_p.T64I|GCK_uc003tkk.1_Missense_Mutation_p.T66I	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	65					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCCTTCTGGGGTGGAGCGCAC	0.612000														57			36		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	853619	853619	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:853619C>T	uc002wei.3	-	8	1599	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	ANGPT4_uc010zpn.2_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	499	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTCCAAAGGCCGTATCATCAT	0.572000														34			25		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31372470	31372470	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:31372470G>A	uc002ebt.3	+	8	1015	c.948G>A	c.(946-948)gtG>gtA	p.V316V	ITGAX_uc002ebu.1_Silent_p.V316V|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	316	VWFA.				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						TATTTAAAGTGGAGGACTTTG	0.418000														46			63		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596355	36596355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:36596355C>T	uc021qgb.1	+	0	1501	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Nonsense_Mutation_p.Q501*	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	501					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)				ACAGATTTTTCAGCCTTTGCA	0.512000									Familial Hemophagocytic Lymphohistiocytosis					51			26		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18823442	18823443	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:18823442_18823443CC>AT	uc002dfm.3	-	60	10991_10992	c.10628_10629GG>AT	c.(10627-10629)cgg>cAT	p.R3543H	SMG1_uc010bwb.3_Missense_Mutation_p.R3403H|SMG1_uc010bwa.3_Missense_Mutation_p.R2274H|SMG1_uc021tec.1_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3543					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			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						CAGTGTTACTCCGGACTGCTAC	0.470000														21			19		0	0	1	0	0
KIAA1609	57707	broad.mit.edu	37	16	84529511	84529511	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:84529511G>A	uc002fib.3	-	2	269	c.162C>T	c.(160-162)gtC>gtT	p.V54V	KIAA1609_uc010vod.2_Silent_p.V27V	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	54							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						GAGCTTCCCCGACGTGGTTCT	0.517000														65			74		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323136	31323136	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:31323136C>T	uc003jhe.2	+	11	2454	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L697F(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						AAGCCCTTTTCCTACCCCGAC	0.522000														23			26		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661340	44661340	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:44661340C>A	uc002oym.3	+	5	1478	c.1171C>A	c.(1171-1173)Cag>Aag	p.Q391K	ZNF234_uc002oyl.4_Missense_Mutation_p.Q391K	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAGGCCCATCAGGGAGTCCA	0.443000														16			7		0.000274275	0.000275616	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109041221	109041221	+	Silent	SNP	A	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:109041221A>G	uc009zva.3	-	10	1591	c.1542T>C	c.(1540-1542)cgT>cgC	p.R514R	CORO1C_uc001tnj.3_Silent_p.R461R|CORO1C_uc010sxf.2_Silent_p.R424R	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	461					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACTTGGAAATACGCTCATCTT	0.418000														78			56		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369751	77369751	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:77369751G>A	uc002ffc.4	-	11	2180	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	ADAMTS18_uc010chc.1_Silent_p.P175P|ADAMTS18_uc002ffe.1_Silent_p.P283P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	587					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						GGCCGTGGATGGGCCGGGGCC	0.577000														111			78		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137774391	137774391	+	Silent	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:137774391G>T	uc004cfg.1	+	1	130	c.120G>T	c.(118-120)ctG>ctT	p.L40L	FCN2_uc004cfh.1_Intron	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	40					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGGTGGGCCTGGAGGGCTCTG	0.587000														58			35		1.59932e-28	1.63921e-28	1	1	0
C2orf42	54980	broad.mit.edu	37	2	70387814	70387814	+	Missense_Mutation	SNP	G	A	A	rs146789788		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:70387814G>A	uc002sgh.3	-	8	1787	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	487										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTTTCTATACGACCGTAGGTT	0.418000														59			33		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417794	57417794	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:57417794C>T	uc001cyp.3	-	4	660	c.593G>A	c.(592-594)gGt>gAt	p.G198D	C8B_uc010oon.2_Missense_Mutation_p.G136D|C8B_uc010ooo.2_Missense_Mutation_p.G146D	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	198	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGAGCATCCACCTGCATAATA	0.478000														46			31		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702433	135702433	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:135702433G>A	uc004cbu.1	-	7	1121	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	189						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						AAGGTGGTGTGATAAATCTCT	0.567000														64			44		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704789	48704789	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:48704789C>T	uc001zwx.2	-	64	8598	c.8203G>A	c.(8203-8205)Gaa>Aaa	p.E2735K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2735					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.N2734N(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)		GCATCAGTTTCGTTTGTGCTT	0.498000														55			35		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332711	100332711	+	RNA	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:100332711G>A	uc021sxl.1	-	1		c.442C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		CTCTGCAggggtgggggtggg	0.617000														50			93		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890152	139890152	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:139890152G>A	uc003yvd.3	-	2	946	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	167	VWFA.				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)			ATGCCAGCGCGGTGGGCTGCC	0.716000										HNSCC(7;0.00092)				29			4		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55363007	55363007	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:55363007C>T	uc002ehy.3	+	4	1650	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	IRX6_uc002ehx.3_Missense_Mutation_p.P373S	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	373						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCGGCCTAGGCCACGAAGTCC	0.637000														29			26		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160774	160160774	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:160160774A>C	uc010pja.2	+	0	490	c.233A>C	c.(232-234)gAc>gCc	p.D78A		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	78						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCGAGGATGACAAGGCCTCA	0.527000														66			18		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120876813	120876813	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:120876813C>T	uc003vjq.4	+	16	2548	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S	C7orf58_uc003vjs.4_Missense_Mutation_p.P701S|C7orf58_uc003vjt.4_Missense_Mutation_p.P481S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	701						endoplasmic reticulum		p.P701H(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TGGGTTACAGCCTATTTCTTC	0.358000														17			3		0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6712908	6712908	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:6712908G>A	uc001aof.2	-	5	717	c.611C>T	c.(610-612)tCg>tTg	p.S204L	DNAJC11_uc001aog.2_Missense_Mutation_p.S204L|DNAJC11_uc010nzu.1_Missense_Mutation_p.S114L	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	204					protein folding		heat shock protein binding|unfolded protein binding	p.S204L(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTTGCCGAAGTTACTCG	0.483000														58			34		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33290791	33290791	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:33290791G>A	uc001wrq.3	+	12	3942	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1258					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)		AAGTAATGAGGACCCTGGTTA	0.438000														8			11		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31596971	31596971	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:31596971C>T	uc003nvb.4	+	12	2065	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P606S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	606	4 X 57 AA type A repeats.					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						AGAAGAGGTTCCTCCTCCTAC	0.542000														72			380		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874117	48874117	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:48874117G>A	uc002rwp.2	+	7	3140	c.3026G>A	c.(3025-3027)gGa>gAa	p.G1009E	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G1009E|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G962E|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.G305E|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.G271E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	962					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)			AGGATGTATGGATGTGATTCT	0.433000														15			10		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191500	40191500	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr21:40191500C>T	uc002yxf.3	+	8	1345	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	ETS2_uc002yxg.3_Silent_p.S295S	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	295					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCCTCCAGTCCTGGAACAGCC	0.552000														36			30		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128922047	128922047	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:128922047G>A	uc004euu.3	+	2	335	c.153_splice	c.e2+1	p.N51_splice	SASH3_uc011muo.1_Splice_Site	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	51										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGATGATAACGTGAGTTTCAG	0.577000														1			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074253	90074253	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:90074253G>A	uc003kju.3	+	62	12772	c.12676G>A	c.(12676-12678)Gat>Aat	p.D4226N	GPR98_uc003kjt.3_Missense_Mutation_p.D1932N|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4226	Calx-beta 28.				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)		GGCTTTGAACGATGACATTCC	0.403000														4			10		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516895	195516895	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:195516895C>T	uc021xjp.1	-	1	1712	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G401E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	524					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGATGGATTTCCTGTGACAAG	0.532000														21			29		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161683045	161683045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:161683045C>T	uc001gbe.3	+	5	1266	c.1024C>T	c.(1024-1026)Cac>Tac	p.H342Y	FCRLA_uc001gbg.3_Missense_Mutation_p.H196Y|FCRLA_uc009wup.3_Missense_Mutation_p.H152Y|FCRLA_uc009wuq.3_Missense_Mutation_p.H101Y|FCRLA_uc001gbd.3_Missense_Mutation_p.H336Y|FCRLA_uc001gbf.3_Missense_Mutation_p.H247Y|FCRLA_uc009wuo.3_Missense_Mutation_p.H202Y	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	319					cell differentiation	cytoplasm|extracellular region		p.H319Y(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCATCTGTATCACCAGATGGG	0.577000														46			17		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124848237	124848237	+	Silent	SNP	G	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:124848237G>C	uc021rga.1	-	20	3033	c.2916C>G	c.(2914-2916)gcC>gcG	p.A972A	NCOR2_uc021rgb.1_Silent_p.A955A|NCOR2_uc010tbb.2_Silent_p.A972A|NCOR2_uc010tbc.2_Silent_p.A954A|NCOR2_uc021rgc.1_Silent_p.A954A|NCOR2_uc010tba.2_Silent_p.A972A|NCOR2_uc001ugj.1_Silent_p.A972A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	972					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)		TGGGGGGGATGGCAGCCGCTC	0.657000														103			67		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920702	227920702	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:227920702G>A	uc021vxr.1	-	28	2776	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	COL4A4_uc021vxs.1_Missense_Mutation_p.P892L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	892	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)		ATCTCCAAAGGGACCTGGGAT	0.592000														37			13		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12684210	12684210	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:12684210G>A	uc003ssn.4	+	13	1970	c.1760_splice	c.e13-1	p.E587_splice	SCIN_uc010ktt.3_Splice_Site|SCIN_uc003sso.4_Splice_Site_p.E340_splice	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	587	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.E587D(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCCACAGAGGAGTTCTGGA	0.453000														6			5		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233282	129233282	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:129233282G>A	uc003eml.3	+	25	3397	c.3191G>A	c.(3190-3192)aGg>aAg	p.R1064K	IFT122_uc003emm.3_Missense_Mutation_p.R1013K|IFT122_uc003emn.3_Missense_Mutation_p.R954K|IFT122_uc003emo.3_Missense_Mutation_p.R903K|IFT122_uc003emp.3_Missense_Mutation_p.R863K|IFT122_uc010htc.3_Missense_Mutation_p.R1006K|IFT122_uc011bky.2_Missense_Mutation_p.R804K|IFT122_uc011bla.2_Missense_Mutation_p.R787K|IFT122_uc003emr.3_Missense_Mutation_p.R766K|IFT122_uc010hte.3_Missense_Mutation_p.R339K|IFT122_uc003ems.3_Missense_Mutation_p.R395K	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1013					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GGTGCCTACAGGCTGGCCCGG	0.607000														26			28		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200954	123200954	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:123200954G>A	uc001ucy.4	-	0	486	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	111						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CTGCCCTGGCGGTTCATGGCA	0.567000														23			36		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47955074	47955074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:47955074C>T	uc003tny.2	-	7	1217	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	395					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						ttactggggtctgagtcttcc	0.398000														25			23		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138650353	138650353	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:138650353G>A	uc011mdq.2	+	10	928	c.854_splice	c.e10+1	p.G285_splice	KCNT1_uc011mdr.2_Splice_Site_p.G112_splice|KCNT1_uc010nbf.3_Splice_Site_p.G237_splice|KCNT1_uc004cgo.1_Splice_Site_p.G34_splice	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	285						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)		CGTTTTCACGGGGTGAGTGCC	0.612000														48			45		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502075	20502075	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:20502075G>A	uc010tkz.2	-	0	843	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TAGGATTTAAGAGAGGTGTGA	0.333000														10			8		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56530642	56530642	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:56530642C>T	uc001sjr.3	+	15	1895	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ESYT1_uc001sjq.3_Missense_Mutation_p.P583S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	583						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGCTCTGGTCCAAACTCCAG	0.532000														47			39		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50163489	50163489	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:50163489C>T	uc010njr.2	-	3	898	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	285	PH.				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)					AGTGATTTTTCGTTGTGGTGT	0.383000														2			18		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65940425	65940425	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:65940425C>T	uc002jgf.3	+	19	6698	c.6637C>T	c.(6637-6639)Cca>Tca	p.P2213S	BPTF_uc002jge.3_Missense_Mutation_p.P2339S|BPTF_uc021uca.1_Missense_Mutation_p.P13S|BPTF_uc002jgg.3_Missense_Mutation_p.P13S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2339					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTCTTTACCCCATTGGCAAC	0.537000														101			37		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229400	7229400	+	Silent	SNP	C	T	T	rs139799223		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:7229400C>T	uc003mxb.3	+	9	1560	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	RREB1_uc021yky.1_Silent_p.D356D|RREB1_uc003mxc.3_Silent_p.D356D|RREB1_uc010jnx.3_Silent_p.D356D|RREB1_uc021ykz.1_Silent_p.D356D|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	356					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)				TGCCTGGTGACGCCCTGGACC	0.662000														68			10		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5757877	5757877	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:5757877C>T	uc002mda.3	+	13	1363	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	CATSPERD_uc010duj.1_Silent_p.S92S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	434						integral to membrane											ACCCCCACTCCCTGGGGTTCC	0.612000														42			18		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15872688	15872688	+	Missense_Mutation	SNP	G	T	T	rs150759461	byFrequency	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:15872688G>T	uc002ddx.3	-	7	867	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	MYH11_uc002ddv.3_Missense_Mutation_p.R254S|MYH11_uc002ddw.3_Missense_Mutation_p.R247S|MYH11_uc002ddy.3_Missense_Mutation_p.R247S|MYH11_uc010bvg.3_Missense_Mutation_p.R79S|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	247	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T253T(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTGATGCGGATGAATTTG	0.552000			T	CBFB	AML									62			34		2.40579e-17	2.45355e-17	1	1	0
ANK3	288	broad.mit.edu	37	10	62023660	62023660	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:62023660C>T	uc001jky.3	-	5	970	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	ANK3_uc010qih.2_Missense_Mutation_p.R194Q|ANK3_uc001jkz.4_Missense_Mutation_p.R205Q|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	211					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						GTCGTCTTTTCGGGCCGCGAT	0.547000														17			13		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574875	28574875	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:28574875C>T	uc003xgz.1	+	2	1892	c.1299C>T	c.(1297-1299)atC>atT	p.I433I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	433						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.I433M(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCGCCCTCATCATTACCCCCG	0.622000														2			26		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038186	43038186	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:43038186G>A	uc001zqo.2	-	14	3981	c.3542C>T	c.(3541-3543)tCg>tTg	p.S1181L	TTBK2_uc010bcy.2_Missense_Mutation_p.S1112L|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1181	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGTGGGGACGAACTCCTCTG	0.592000														18			17		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113950937	113950937	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:113950937C>T	uc002tjc.3	+	7	2205	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	PSD4_uc002tjd.3_Silent_p.F295F|PSD4_uc002tje.3_Silent_p.F645F|PSD4_uc002tjf.3_Silent_p.F295F	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	674	SEC7.				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						CGGGGATCTTCCCCTCAGTAG	0.582000														24			29		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387705	77387705	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:77387705C>T	uc002ffc.4	-	9	1958	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	ADAMTS18_uc010chc.1_Silent_p.Q101Q|ADAMTS18_uc002ffe.1_Silent_p.Q209Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	513	Disintegrin.				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						CATCATAAATCTGTCCTGGTA	0.433000														36			38		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850181	38850181	+	Missense_Mutation	SNP	C	T	T	rs140177794		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:38850181C>T	uc002oih.4	+	13	1655	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	CATSPERG_uc002oig.4_Missense_Mutation_p.S483L|CATSPERG_uc002oif.4_Missense_Mutation_p.S163L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	523					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.S163L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATGGCCAGATCGTTCCGTGGG	0.602000														25			33		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944509	55944509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:55944509G>A	uc010rjb.2	+	0	416	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGTCTGATAGAAAGTGTGTG	0.448000														24			24		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42262864	42262864	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr22:42262864G>C	uc003bbi.3	+	1	287	c.118G>C	c.(118-120)Gga>Cga	p.G40R	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	40	Transcriptional activation (acidic).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TAATCAAGTGGGAGAGTTCCC	0.448000														90			58		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349510	31349510	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:31349510G>A	uc001bse.2	-	2	806	c.759C>T	c.(757-759)acC>acT	p.T253T	SDC3_uc001bsd.2_Silent_p.T195T	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	253	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding	p.T253fs*46(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCCGGGAGGTAGCTGTGC	0.716000														12			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855630	2855630	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:2855630C>T	uc022aqr.1	-	53	8670	c.8280G>A	c.(8278-8280)gtG>gtA	p.V2760V	CSMD1_uc011kwj.2_Silent_p.V2090V|CSMD1_uc010lrg.3_Silent_p.V771V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2761	Sushi 19.					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)		AGGTGAAATTCACGACATCAT	0.557000														8			26		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265907	3265907	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:3265907G>A	uc010uwv.2	+	0	346	c.198G>A	c.(196-198)caG>caA	p.Q66Q						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		GTCTCATGCAGATGTATTTTA	0.512000														43			28		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203237	41203238	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:41203237_41203238CC>TT	uc003jmk.2	-	1	305_306	c.95_96GG>AA	c.(94-96)tgg>tAA	p.W32*	C6_uc003jml.1_Nonsense_Mutation_p.W32*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	32	TSP type-1 1.				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)				AGCAGCTGGTCCACTGAGTCCA	0.505000														33			21		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110049072	110049072	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:110049072C>T	uc010ywt.1	+	5	1519	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	507	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGGGCGTCTCTGAGGACCGG	0.627000														9			8		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897189	100897189	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:100897189C>T	uc004aym.3	-	3	483	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	CORO2A_uc004ayl.3_Missense_Mutation_p.A123T	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	123					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTCCTGTAGGCCGTGAGGTTC	0.617000														35			25		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2105449	2105449	+	Silent	SNP	C	T	T	rs137854207		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:2105449C>T	uc002con.3	+	5	634	c.528C>T	c.(526-528)ttC>ttT	p.F176F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.F176F|TSC2_uc002coo.3_Silent_p.F176F|TSC2_uc010uvv.2_Silent_p.F139F|TSC2_uc010uvw.2_Silent_p.F127F|TSC2_uc002cop.3_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	176	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTCGGAATTCCTTCTGGTGC	0.502000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					110			148		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18309543	18309543	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:18309543G>A	uc001mod.1	-	16	2736	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	HPS5_uc001moe.1_Missense_Mutation_p.P706S|HPS5_uc001mof.1_Missense_Mutation_p.P706S	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	820						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						ATATACACAGGATTGGAACTT	0.353000									Hermansky-Pudlak syndrome					20			16		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957591	111957591	+	Missense_Mutation	SNP	G	A	A	rs3835606		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:111957591G>A	uc001eba.3	-	10	1588	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	OVGP1_uc001eaz.3_Missense_Mutation_p.S473F|OVGP1_uc010owb.2_Missense_Mutation_p.S159F	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	511				S -> P (in Ref. 2; AAB04126).	chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATAACCCACAGAGGTCAGGGT	0.567000														10			16		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436695	72436695	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:72436695C>T	uc002jkp.3	+	1	1426	c.915C>T	c.(913-915)atC>atT	p.I305I	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.I272I|GPRC5C_uc002jkt.3_Silent_p.I260I|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	260						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGTGTGGATCGTCATGTATA	0.622000														82			41		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400630	85400630	+	Silent	SNP	G	A	A	rs142125273		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:85400630G>A	uc002ble.3	+	5	3434	c.3267G>A	c.(3265-3267)ccG>ccA	p.P1089P		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1089					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)			GTAGCACCCCGACTTCTCAGC	0.637000														22			38		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61176546	61176546	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:61176546C>T	uc002jal.4	+	2	173	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	50							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						GTGGCATCTCCACAGAAAGCG	0.473000														3			2		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319194	71319194	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:71319194G>A	uc021tkr.1	-	0	630	c.630C>T	c.(628-630)atC>atT	p.I210I	FTSJD1_uc010cga.3_Silent_p.I210I|FTSJD1_uc002ezy.4_Silent_p.I210I|FTSJD1_uc002ezz.4_Silent_p.I210I	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	210						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						TCAGGGTCATGATATCACCAG	0.438000														57			45		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683440	84683440	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:84683440G>C	uc002bjz.4	+	23	4344	c.4120G>C	c.(4120-4122)Gga>Cga	p.G1374R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1374R	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1374	Ig-like C2-type 3.					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)			CAATGCTCTTGGAAAGGCAGT	0.453000														9			15		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052249	55052249	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:55052249G>A	uc003dhf.3	+	34	2940	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	CACNA2D3_uc003dhg.1_Silent_p.Q870Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	964						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)		AATTGAAACAGACCCTGGAGC	0.468000														5			4		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160262336	160262336	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:160262336G>A	uc001fvv.4	-	27	3319	c.2925C>T	c.(2923-2925)ggC>ggT	p.G975G	COPA_uc009wti.3_Silent_p.G966G	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	966					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTTGTGCGGCCTCGGGCGT	0.502000														143			39		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123980230	123980230	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:123980230T>A	uc003ktq.1	-	4	4013	c.3830A>T	c.(3829-3831)aAa>aTa	p.K1277I	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_5'UTR	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1277						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)		ACCACTCTCTTTATTAGGAGT	0.423000														122			160		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321911	55321911	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:55321911C>T	uc010rig.2	+	0	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TATACATGATCCCTGTTGGAG	0.378000										HNSCC(20;0.049)				14			45		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769394	57769394	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:57769394C>T	uc002yan.3	+	0	3320	c.3320C>T	c.(3319-3321)cCt>cTt	p.P1107L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1107						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGAGCCTCCTGGGAATGCC	0.652000														27			22		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067994	106067994	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:106067994G>A	uc001yrw.1	-	1	126	c.114C>T	c.(112-114)tcC>tcT	p.S38S	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_5'UTR|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		CCAGAGTCACGGAGGTGGCAT	0.607000														19			13		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566687	136566687	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:136566687C>T	uc002tuu.1	-	7	3241	c.3230G>A	c.(3229-3231)gGg>gAg	p.G1077E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1077	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)		GGGAAATTCCCCTGAGCCATA	0.512000														18			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208418	140208418	+	Nonsense_Mutation	SNP	G	T	T	rs149898673		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:140208418G>T	uc003lho.2	+	0	769	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	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_Nonsense_Mutation_p.E248*|PCDHAC2_uc011dab.2_Nonsense_Mutation_p.E248*	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	263	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAATACGAAGTAAGAAT	0.453000														102			3		1	1	1	1	0
ENAM	10117	broad.mit.edu	37	4	71507856	71507856	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:71507856C>T	uc011caw.1	+	8	994	c.713C>T	c.(712-714)cCa>cTa	p.P238L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	238					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)			GCAGAAAGTCCAGGCACAGAA	0.448000														39			29		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142396891	142396891	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:142396891C>T	uc010huv.3	+	5	674	c.515C>T	c.(514-516)tCt>tTt	p.S172F	PLS1_uc003euz.3_Missense_Mutation_p.S172F|PLS1_uc003eva.3_Missense_Mutation_p.S172F	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	172	Actin-binding 1.|CH 1.					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						ATCAACTTATCTGAACCAGAT	0.284000														13			16		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														15			9		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987698	72987698	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:72987698G>A	uc003tyh.3	-	3	684	c.550C>T	c.(550-552)Cct>Tct	p.P184S	TBL2_uc011kex.2_Missense_Mutation_p.P148S|TBL2_uc010lbg.3_Missense_Mutation_p.P89S|TBL2_uc003tyi.3_Missense_Mutation_p.P19S|TBL2_uc011key.2_Missense_Mutation_p.P55S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	184										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTTTTTAGGGAAGTCCTCT	0.562000														36			24		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19201979	19201979	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:19201979G>A	uc001bbb.3	-	12	1633	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	ALDH4A1_uc010ocu.2_Silent_p.L393L|ALDH4A1_uc001bbc.3_Silent_p.L453L|ALDH4A1_uc021ohl.1_Silent_p.L402L	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	453					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TACACAGACAGTACAGGCCCG	0.637000											OREG0013164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224730	3224730	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:3224730G>A	uc022aqr.1	-	19	3329	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	CSMD1_uc011kwj.2_Missense_Mutation_p.S373F|CSMD1_uc003wqe.3_Missense_Mutation_p.S137F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	981	CUB 6.					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)		ATAGTCGTGGGAACTCTCAAG	0.537000														1			5		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684129	33684129	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr21:33684129G>A	uc002ypj.3	+	4	528	c.341G>A	c.(340-342)gGg>gAg	p.G114E	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.G55E|MRAP_uc002ypl.3_Missense_Mutation_p.G114E	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	114					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						GTGGAGCCAGGGAGCAGAACT	0.647000														15			13		0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129174	41129174	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:41129174G>A	uc003opz.2	-	1	320	c.308C>T	c.(307-309)tCc>tTc	p.S103F	TREM2_uc003opy.2_Missense_Mutation_p.S73F|TREM2_uc010jxl.1_Missense_Mutation_p.S103F			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	73	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTCAGGAAGGACAGCAGCCA	0.612000														45			139		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499387	141499387	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:141499387A>T	uc011bnd.2	+	1	868	c.784A>T	c.(784-786)Acc>Tcc	p.T262S		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	262	Protein kinase.				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						TGAGAGCAAGACCCATCTCTG	0.527000														57			28		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344720	38344720	+	Silent	SNP	C	T	T	rs138923692	by1000genomes	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:38344720C>T	uc010qev.2	+	3	1790	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	ZNF33A_uc001izg.3_Silent_p.P556P|ZNF33A_uc001izh.3_Silent_p.P555P|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.P556P	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	555						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P555P(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTGCATGTCCCGAATGTGGGA	0.423000														35			20		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87898618	87898618	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:87898618G>A	uc001kdl.1	-	3	785	c.684C>T	c.(682-684)atC>atT	p.I228I	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	228						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)	TGAGCAGCAGGATGGCGCGGC	0.597000										Multiple Myeloma(13;0.14)				62			60		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116409900	116409900	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:116409900G>A	uc001tvw.3	-	25	5928	c.5873C>T	c.(5872-5874)tCc>tTc	p.S1958F		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1958					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)		CACTACAAAGGACCCCTGGGG	0.468000														10			3		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518129	8518130	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:8518129_8518130GG>AA	uc003zkk.3	-	20	2004_2005	c.1261_1262CC>TT	c.(1261-1263)ccg>TTg	p.P421L	PTPRD_uc003zkp.3_Missense_Mutation_p.P421L|PTPRD_uc003zkq.3_Missense_Mutation_p.P421L|PTPRD_uc003zkr.3_Missense_Mutation_p.P415L|PTPRD_uc003zks.3_Missense_Mutation_p.P411L|PTPRD_uc022bdj.1_Missense_Mutation_p.P418L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	421	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P421P(1)		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)		GACATCCCTCGGGGCACTGGAT	0.500000										TSP Lung(15;0.13)				30			26		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95119734	95119734	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:95119734G>A	uc001kin.3	-	29	3098	c.2975_splice	c.e29-1	p.G992_splice	MYOF_uc001kio.3_Splice_Site_p.G979_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	992					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATATTCCCAGCCTGGAACAG	0.478000														52			29		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161566	1161566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:1161566C>T	uc002weq.1	-	1	1369	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TMEM74B_uc010gaa.1_Missense_Mutation_p.D233N	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	233						integral to membrane	protein binding										TGGCCCCCATCCCCATTGAGC	0.597000														36			24		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767021	20767021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:20767021G>A	uc001vwt.3	-	4	631	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	TTC5_uc001vwu.3_Missense_Mutation_p.L49F	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	192					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GAGAAGTAAAGGGAAAGATAT	0.418000														11			12		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364838	13364838	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:13364838G>A	uc003bxv.1	-	33	4822	c.4739C>T	c.(4738-4740)gCc>gTc	p.A1580V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1580					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.V1579F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTCTCCCACGGCAACAATCAC	0.587000														71			47		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72297608	72297608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:72297608G>A	uc001jrd.4	+	10	1550	c.1269G>A	c.(1267-1269)tgG>tgA	p.W423*	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	423										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGGCGCTGTGGAGCCTGGAGC	0.612000														48			37		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952118	50952118	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:50952118C>T	uc009xog.3	-	12	1898	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R	OGDHL_uc001jie.3_Missense_Mutation_p.G595R|OGDHL_uc010qgt.2_Missense_Mutation_p.G538R|OGDHL_uc010qgu.2_Missense_Mutation_p.G386R|OGDHL_uc009xoh.2_Missense_Mutation_p.G386R	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	595					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						TCAGGGATCCCCGTGGCTGGG	0.587000														23			33		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931247	73931247	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:73931247G>A	uc003kdc.4	-	1	2195	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L	ENC1_uc011css.2_Missense_Mutation_p.S282L|ENC1_uc021yao.1_Missense_Mutation_p.S355L	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	355					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GACATCTTTTGAGACCCCATT	0.547000														126			164		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107113794	107113794	+	RNA	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:107113794G>A	uc021ser.1	-	96		c.4435C>T								Parts of antibodies, mostly variable regions.																		CCCATTTGAAGATACAGCGTG	0.473000														125			97		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488310	108488310	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:108488310C>T	uc010ywk.2	+	19	3932	c.3850C>T	c.(3850-3852)Cat>Tat	p.H1284Y	RGPD4_uc002tdu.3_Missense_Mutation_p.H471Y|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1284					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATCTTTTCCATTTTGGTGA	0.408000														59			49		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156672894	156672894	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:156672894C>T	uc003lwo.1	+	14	1600	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	506	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)			TTCCCAGGTTCGTTCTGGATG	0.537000			T	SYK	peripheral T-cell lymphoma									5			48		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41330595	41330595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:41330595G>A	uc001rmm.1	+	9	1111	c.998G>A	c.(997-999)tGg>tAg	p.W333*	CNTN1_uc009zjy.2_Nonsense_Mutation_p.W333*|CNTN1_uc001rmn.1_Nonsense_Mutation_p.W322*|CNTN1_uc001rmo.3_Nonsense_Mutation_p.W333*	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	333	Ig-like C2-type 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCCCTGAGTGGGTAGAACAC	0.413000														9			6		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46247993	46247993	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:46247993C>T	uc002ini.1	-	9	967	c.855G>A	c.(853-855)gaG>gaA	p.E285E	SKAP1_uc002inj.1_Silent_p.E285E|SKAP1_uc010dbd.1_Silent_p.E191E|SKAP1_uc010dbe.1_Silent_p.E285E	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	285					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						GAGTGCCACTCTCATCCTCTT	0.413000														60			40		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208660	121208660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:121208660G>A	uc003eee.4	-	15	3247	c.3118C>T	c.(3118-3120)Cga>Tga	p.R1040*	POLQ_uc003eed.3_Nonsense_Mutation_p.R212*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1040					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)		TTCCAAGATCGAAAACTTCTG	0.408000								DNA polymerases (catalytic subunits)						16			7		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36150095	36150095	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:36150095C>T	uc003gsq.2	-	16	3270	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	978	PH 3.				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						AACACACGTTCGGAGGGTAAG	0.338000														7			9		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466127	220466127	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:220466127C>T	uc002vml.3	+	2	308	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	STK11IP_uc010zlj.2_Missense_Mutation_p.L78F|STK11IP_uc010zlk.2_Missense_Mutation_p.L78F|STK11IP_uc010zll.2_Missense_Mutation_p.L78F|STK11IP_uc002vmm.1_Missense_Mutation_p.L78F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	89					protein localization	cytoplasm	protein kinase binding	p.L88L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGTTTCTCTTCGATGT	0.547000														30			20		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371804	240371804	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:240371804G>A	uc010pye.2	+	5	3929	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	FMN2_uc010pyd.2_Missense_Mutation_p.G1231E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1231	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGGGACAGGAATCCCACCG	0.617000														71			8		0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184611	39184611	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:39184611G>A	uc003cjg.3	-	4	1919	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	CSRNP1_uc003cjh.3_Missense_Mutation_p.P569S	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	569					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCAATAAAGGGATCTAGGGCT	0.592000														26			22		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40121902	40121902	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:40121902C>T	uc003guy.4	+	8	2509	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	N4BP2_uc010ifq.3_Missense_Mutation_p.S644L|N4BP2_uc010ifr.3_Missense_Mutation_p.S644L	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	724						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						GAGAGAGTATCACCTAGTACT	0.373000														42			44		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11211008	11211008	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:11211008C>T	uc002mqk.4	+	1	364	c.177C>T	c.(175-177)tcC>tcT	p.S59S	LDLR_uc010xlk.2_Silent_p.S59S|LDLR_uc010xll.2_Silent_p.S59S|LDLR_uc021upc.1_Intron|LDLR_uc010xln.2_Silent_p.S59S|LDLR_uc010xlo.2_Silent_p.S59S|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	59	LDL-receptor class A 1.				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)	CTGATGAGTCCCAGGAGACGT	0.517000														40			17		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352637	124352637	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:124352637G>A	uc001uft.4	+	41	7161	c.7136G>A	c.(7135-7137)gGa>gAa	p.G2379E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2379					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACACAGAAGGAGTTTGGGCC	0.493000														7			7		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470843	4470843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:4470843C>T	uc001lyz.2	+	0	319	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92W(6)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAGGGATCGGGAGATAAA	0.527000														22			16		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168545	142168545	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:142168545G>A	uc011kry.1	-	1	344	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGGCCCCTGACCCAGGGCC	0.507000														29			19		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150906989	150906990	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:150906989_150906990CC>TT	uc004fey.1	+	1	258_259	c.34_35CC>TT	c.(34-36)cca>TTa	p.P12L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	12					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)					GAAGAGCTCCCCAGCCAATAAT	0.515000														10			56		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465571	8465571	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:8465571G>A	uc003zkk.3	-	31	4352	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F	PTPRD_uc003zkp.3_Silent_p.F792F|PTPRD_uc003zkq.3_Silent_p.F792F|PTPRD_uc003zkr.3_Silent_p.F787F|PTPRD_uc003zks.3_Silent_p.F782F|PTPRD_uc022bdj.1_Silent_p.F789F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1203					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)		CCCCCAGGGTGAACTCAGTGG	0.428000										TSP Lung(15;0.13)				28			16		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981222	61981222	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:61981222T>C	uc002yes.2	-	4	1719	c.1541A>G	c.(1540-1542)aAc>aGc	p.N514S	CHRNA4_uc002yet.1_Missense_Mutation_p.N338S|CHRNA4_uc010gke.1_Missense_Mutation_p.N443S|CHRNA4_uc002yev.1_Missense_Mutation_p.N338S|CHRNA4_uc010gkf.1_Missense_Mutation_p.N338S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	514					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R513S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGAGTGGGTGTTGCGAGAGGC	0.682000														7			5		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049712	69049712	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:69049712G>A	uc010fdg.3	+	9	1860	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ARHGAP25_uc010yql.2_Missense_Mutation_p.E441K|ARHGAP25_uc002sew.3_Missense_Mutation_p.E473K|ARHGAP25_uc002sex.3_Missense_Mutation_p.E474K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	480					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						TAAGGCAGGGGAAGGGCACAG	0.512000														44			34		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709563	128709563	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:128709563G>A	uc001qeo.1	-	1	684	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNJ1_uc001qep.1_Silent_p.I192I|KCNJ1_uc001qeq.1_Silent_p.I192I|KCNJ1_uc001qer.1_Silent_p.I192I|KCNJ1_uc001qes.1_Silent_p.I192I|KCNJ1_uc021qsb.1_Silent_p.I192I	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	211					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGCCACTCGGATTAGGAGGC	0.478000														2			21		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52377937	52377937	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:52377937C>T	uc010snn.2	+	5	1166	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	ACVR1B_uc001rzl.3_Silent_p.I322I|ACVR1B_uc001rzm.3_Silent_p.I322I|ACVR1B_uc001rzn.3_Silent_p.I322I|ACVR1B_uc021qya.1_Silent_p.I270I	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	322	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACATGGAGATCGTGGGCACCC	0.522000														32			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710638	140710638	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:140710638C>G	uc003lji.2	+	0	387	c.387C>G	c.(385-387)aaC>aaG	p.N129K	PCDHGC5_uc011dan.2_Missense_Mutation_p.N129K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	129	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)			TTAATGACAACACTCCCCAAT	0.403000														108			3		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640040	58640040	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:58640040G>A	uc002qrn.3	-	3	1068	c.831C>T	c.(829-831)caC>caT	p.H277H	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.H277H	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GAATTCTCTGGTGCTGTGTCA	0.433000														51			62		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833913	168833913	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:168833913C>T	uc011bpj.1	-	7	2150	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MECOM_uc010hwk.1_Missense_Mutation_p.D418N|MECOM_uc003ffj.3_Missense_Mutation_p.D460N|MECOM_uc003ffi.3_Missense_Mutation_p.D395N|MECOM_uc011bpi.1_Missense_Mutation_p.D396N|MECOM_uc003ffn.3_Missense_Mutation_p.D395N|MECOM_uc003ffk.2_Missense_Mutation_p.D395N|MECOM_uc003ffl.2_Missense_Mutation_p.D555N|MECOM_uc011bpk.1_Missense_Mutation_p.D395N|MECOM_uc010hwn.2_Missense_Mutation_p.D583N	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			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						CTGACATCATCAAGGTCACTA	0.468000														29			55		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485307	8485307	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:8485307G>A	uc003zkk.3	-	28	3816	c.3073C>T	c.(3073-3075)Cat>Tat	p.H1025Y	PTPRD_uc003zkp.3_Missense_Mutation_p.H614Y|PTPRD_uc003zkq.3_Missense_Mutation_p.H614Y|PTPRD_uc003zkr.3_Missense_Mutation_p.H609Y|PTPRD_uc003zks.3_Missense_Mutation_p.H604Y|PTPRD_uc022bdj.1_Missense_Mutation_p.H611Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1025	Fibronectin type-III 8.				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)		GCTTTGACATGAAAATTTTTT	0.378000										TSP Lung(15;0.13)				12			11		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135517065	135517065	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:135517065C>T	uc003qfh.3	+	8	1327	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.I376I|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Silent_p.I2I|MYB_uc003qfw.3_Silent_p.I188I|MYB_uc010kgi.3_Silent_p.I376I|MYB_uc003qfq.3_Silent_p.I373I|MYB_uc010kgj.3_Silent_p.I341I|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Silent_p.I373I|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Intron|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Silent_p.I376I|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Intron|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.I376I|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	376	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGTGCATGATCGTCCACCAGG	0.478000			T	NFIB	adenoid cystic carcinoma									14			10		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33173951	33173951	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:33173951C>T	uc021vft.1	+	1	527	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	168					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)				GGGTCAATGTCTGTGGAGGGC	0.567000														67			43		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999357	20999357	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:20999357G>A	uc010vbe.2	-	44	6632	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2211	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATTGATGGAAATGATATT	0.413000														70			62		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769650	50769650	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:50769650G>A	uc002xwl.3	-	5	1430	c.1081C>T	c.(1081-1083)Cac>Tac	p.H361Y	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.H359Y|ZFP64_uc002xwn.3_Missense_Mutation_p.H307Y	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATACGCTCGTGGATGCGCAGG	0.597000														75			46		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278292	27278292	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:27278292C>T	uc001bni.2	-	1	673	c.580G>A	c.(580-582)Gat>Aat	p.D194N	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	194										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGGGGGATCGGCCAGTGGC	0.617000														38			30		0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541941	101541941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:101541941G>A	uc003yjo.1	-	3	430	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD46_uc003yjm.3_Missense_Mutation_p.R41C|ANKRD46_uc003yjn.1_Missense_Mutation_p.R41C|ANKRD46_uc003yjp.1_Missense_Mutation_p.R41C	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	41						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCTGTCACGAATATTTGGG	0.493000														126			21		0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96046263	96046263	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:96046263C>T	uc003htm.4	+	7	850	c.576C>T	c.(574-576)ctC>ctT	p.L192L	BMPR1B_uc010ilb.3_Silent_p.L192L|BMPR1B_uc003htn.4_Silent_p.L192L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	192	GS.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATCAGGCCTCCCTCTGCTGG	0.423000														12			7		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772236	49772236	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr13:49772236C>T	uc001vcm.3	+	21	2914	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L	FNDC3A_uc001vcn.3_Missense_Mutation_p.P870L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P814L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	870	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATAGAAAATCCCCATTATTCA	0.443000														69			21		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892229	16892229	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:16892229G>A	uc009vos.1	-	26	3851	c.2963C>T	c.(2962-2964)aCt>aTt	p.T988I	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	988	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGGAAGGAGTTGAATAACA	0.463000														531			28		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901027	123901027	+	Missense_Mutation	SNP	A	G	G	rs148074790	byFrequency	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:123901027A>G	uc001pzp.1	+	0	698	c.698A>G	c.(697-699)aAg>aGg	p.K233R		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		TCAGAGGGGAAGCACAGAGCC	0.547000														16			3		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278715	27278715	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:27278715G>A	uc001bni.2	-	1	250	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	53	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGCCCATGGTGGCCAGGG	0.632000														17			8		0	0	1	0	0
ACP1	52	broad.mit.edu	37	2	277292	277292	+	Silent	SNP	G	A	A	rs150164591		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:277292G>A	uc002qwf.3	+	5	561	c.465G>A	c.(463-465)gaG>gaA	p.E155E	ACP1_uc002qwg.3_Silent_p.E155E|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	155						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CGTTCTTGGAGAAGGCCCACT	0.542000														74			36		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194943	19194943	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:19194943C>T	uc002dfw.3	+	4	756	c.425C>T	c.(424-426)tCg>tTg	p.S142L	SYT17_uc002dfx.3_Missense_Mutation_p.S81L|SYT17_uc002dfy.3_Missense_Mutation_p.S138L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	142						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATCCAACCTTCGGTGCTCAGA	0.537000														29			13		0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94223753	94223753	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:94223753G>A	uc001kia.3	-	20	2572	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	IDE_uc010qnp.2_Silent_p.I277I|IDE_uc001khz.3_Silent_p.I277I	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	832					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)	CGCTGAAGACGATATAGCCTG	0.458000														73			72		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417352	70417352	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr18:70417352C>T	uc002lkw.3	-	8	1770	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	NETO1_uc002lky.2_Missense_Mutation_p.E496K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	496					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.I495I(1)		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)		GGCACCTCTTCGATTTCATCT	0.463000														7			4		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110681447	110681447	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:110681447C>T	uc011cft.2	-	5	1070	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	CFI_uc003hzq.3_Missense_Mutation_p.E85K|CFI_uc003hzr.4_Missense_Mutation_p.E288K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	288	LDL-receptor class A 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ACTTCATCTTCCCCTGTAATG	0.418000														54			37		0	0	1	0	0
AX747261	0	broad.mit.edu	37	9	99883899	99883899	+	RNA	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:99883899G>A	uc004aww.1	-	1		c.1895C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		CCGGACTGACGAAGGCGTGAC	0.587000														4			6		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352123	120352123	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:120352123C>T	uc003edw.3	-	12	1519	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	HGD_uc003edv.3_Silent_p.K212K	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	353					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)		ACCCACCTTGCTTTGCCTCAT	0.522000														63			37		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259718	40259718	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:40259718C>T	uc001zkm.1	+	8	1241	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	EIF2AK4_uc001zkl.3_Silent_p.I397I|EIF2AK4_uc010bbj.1_Silent_p.I126I	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	397	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAGGCCCCATCCCTGTGCATC	0.517000														31			20		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	78709981	78709981	+	RNA	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:78709981G>A	uc001xum.1	+	1		c.1338G>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)		CTCAAGTATGGAAACTCGGAG	0.572000														22			14		0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142396923	142396923	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:142396923G>A	uc003qiu.3	-	2	1176	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	345					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCTCTTGATAGGACTTCCTCC	0.453000														22			19		0	0	1	0	0
GPR3	2827	broad.mit.edu	37	1	27721279	27721279	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:27721279C>T	uc001bod.3	+	1	1072	c.977C>T	c.(976-978)tCc>tTc	p.S326F	GPR3_uc021ojv.1_Missense_Mutation_p.S326F	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	326					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CGATCCCGCTCCCCCAGTGAT	0.532000														98			86		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150743	128150743	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:128150743C>T	uc011ebt.2	-	2	736	c.587G>A	c.(586-588)aGa>aAa	p.R196K	THEMIS_uc010kfa.3_Missense_Mutation_p.R99K|THEMIS_uc021zfa.1_Missense_Mutation_p.R196K|THEMIS_uc010kfb.3_Missense_Mutation_p.R161K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	196	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						AGTTCTTGTTCTGTTCTTAGG	0.353000														23			21		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539255	56539255	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:56539255G>T	uc002qmj.3	+	6	1656	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	NLRP5_uc002qmi.3_Missense_Mutation_p.M533I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	552	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)		ACGACCTCATGGTTCAAGGAC	0.527000														11			12		6.72482e-11	6.80764e-11	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124253093	124253093	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:124253093G>A	uc010sai.2	-	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAGTGA	0.423000														3			18		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718700	42718700	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:42718700G>A	uc021xxv.1	+	9	1249	c.1112G>A	c.(1111-1113)aGa>aAa	p.R371K	GHR_uc003jmt.3_Missense_Mutation_p.R364K|GHR_uc003jmu.3_Missense_Mutation_p.R364K|GHR_uc003jmv.2_Missense_Mutation_p.R364K|GHR_uc021xxw.1_Missense_Mutation_p.R364K|GHR_uc021xxx.1_Missense_Mutation_p.R364K|GHR_uc021xxy.1_Missense_Mutation_p.R364K|GHR_uc021xxz.1_Missense_Mutation_p.R364K|GHR_uc021xya.1_Missense_Mutation_p.R364K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R177K|GHR_uc021xyd.1_Missense_Mutation_p.R342K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	364					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)	GACACAGACAGACTTCTAAGC	0.443000														31			34		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508759	155508759	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:155508759C>T	uc003iod.1	-	3	473	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FGA_uc003ioe.1_Missense_Mutation_p.E139K|FGA_uc003iof.1_Missense_Mutation_p.E139K	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	139					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)	TTCAGGACTTCAATTCTGCTT	0.408000														21			16		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917185	40917185	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:40917185C>T	uc010bbs.1	+	10	4962	c.4801C>T	c.(4801-4803)Caa>Taa	p.Q1601*	CASC5_uc010ucq.1_Nonsense_Mutation_p.Q1425*|CASC5_uc001zme.3_Nonsense_Mutation_p.Q1575*|CASC5_uc010bbt.1_Nonsense_Mutation_p.Q1575*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1601					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTAGCCTTTCAAACTGTTCA	0.338000														23			24		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377214	18377214	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:18377214G>A	uc010ebn.2	-	2	1352	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	KIAA1683_uc002nin.2_Missense_Mutation_p.A379V|KIAA1683_uc010xqe.1_Missense_Mutation_p.A333V	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	379	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATACATCTGGGCTGGGGTCTT	0.562000														49			39		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850323	40850323	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr18:40850323C>T	uc002law.3	-	3	1630	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.V403M	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	421						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGAGCACGTGCCACTTG	0.463000														103			47		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034565	14034565	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:14034565C>T	uc002mxo.2	+	16	2180	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CC2D1A_uc002mxp.2_Silent_p.F627F|CC2D1A_uc010dzh.2_Silent_p.F196F|CC2D1A_uc002mxq.1_Silent_p.F272F	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	627					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCAAGCCTTCGTCCGGGGTC	0.622000														50			31		0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99774681	99774681	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:99774681G>A	uc003utv.3	-	0	310	c.142C>T	c.(142-144)Cta>Tta	p.L48L	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Silent_p.L48L|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	48						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGGGATTAGGTTTAAGCTA	0.632000														17			15		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149473471	149473471	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:149473471G>A	uc010lpk.3	+	1	87	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	29	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCGTGTGGAGGAGGAAGTGG	0.642000														16			9		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104129342	104129342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:104129342G>A	uc001tjw.3	+	51	5720	c.5534G>A	c.(5533-5535)gGa>gAa	p.G1845E	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1845	FAS1 6.				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						GTGAAATGTGGAGCTGGCAGG	0.527000														14			11		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943475	72943475	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:72943475G>A	uc010wrr.2	+	5	1525	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	OTOP3_uc010wrq.2_Missense_Mutation_p.A491T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	509						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)					CCTGCAGCGGGCCTCACTGGC	0.617000														30			52		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973212	46973212	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:46973212C>T	uc003gxg.3	-	6	1745	c.762G>A	c.(760-762)cgG>cgA	p.R254R	GABRA4_uc021xnz.1_Silent_p.R235R|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	254					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R254L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACCCATCTTCCGTCTGAGGT	0.378000														0			2		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693591	49693591	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:49693591C>T	uc003cxe.4	+	4	6716	c.6602C>T	c.(6601-6603)cCa>cTa	p.P2201L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2201					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)		ATCAATACCCCAATTGCTGCA	0.587000														36			19		0	0	1	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237270	51237270	+	RNA	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr22:51237270G>A	uc003bni.3	+	3		c.725G>A			RPL23AP82_uc003bns.3_Non-coding_Transcript|RPL23AP82_uc010hbj.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 82 (RPL23AP82), transcript variant 1, non-coding RNA.											lung(1)	1						ATCCTCGGAAGAGCACCCCCA	0.552000														20			24		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94727109	94727109	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:94727109C>T	uc003kla.1	+	0	62	c.16C>T	c.(16-18)Ctt>Ttt	p.L6F	FAM81B_uc010jbe.1_5'Flank	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	6								p.F5F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATTACAATTCCTTGGTACATT	0.373000														55			32		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24450118	24450118	+	Missense_Mutation	SNP	G	A	A	rs61733858	byFrequency	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:24450118G>A	uc003ned.1	-	14	1456	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	GPLD1_uc010jpr.1_Missense_Mutation_p.R286W|GPLD1_uc010jps.1_Missense_Mutation_p.R449W	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	449						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAGCCAAACCGACCTGAGGGC	0.627000														178			21		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435781	50435781	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:50435781C>T	uc010enq.2	+	3	863	c.281C>T	c.(280-282)aCc>aTc	p.T94I	IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.T94I|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	94					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCTTCCCCAACCCCACCTGAC	0.612000														59			39		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263372	248263373	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:248263372_248263373GG>AA	uc001ids.3	+	2	1032_1033	c.695_696GG>AA	c.(694-696)ggg>gAA	p.G232E	OR2L13_uc021pmc.1_Missense_Mutation_p.G232E	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G232E(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCAAAGGAGGGGAGAAAAAAGG	0.436000														71			19		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198288628	198288628	+	Silent	SNP	G	A	A	rs143444124	by1000genomes	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:198288628G>A	uc002uue.3	-	1	147	c.99C>T	c.(97-99)ctC>ctT	p.L33L	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Silent_p.L33L|SF3B1_uc002uug.3_Silent_p.L33L	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	33					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTAGAATCGAGGCCCACTC	0.393000			Mis		myelodysplastic syndrome									37			17		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000509	128000510	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:128000509_128000510GG>AA	uc004bpn.3	-	6	1573_1574	c.1312_1313CC>TT	c.(1312-1314)cca>TTa	p.P438L		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	438					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TGTGTTCCTTGGAATCAGTTTG	0.401000										Prostate(1;0.17)				46			31		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444889	197444889	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:197444889C>T	uc003fyc.2	-	1	361	c.178G>A	c.(178-180)Gac>Aac	p.D60N	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.3_Intron|KIAA0226_uc003fyg.3_Missense_Mutation_p.D53N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	60	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTGCATGTCCCTGCAAAGC	0.507000														78			30		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673364	94673364	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:94673364C>T	uc001tdc.3	+	21	3963	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	PLXNC1_uc010sut.2_Silent_p.F285F|PLXNC1_uc009zsv.3_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1238					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAGATTTTCCAAGCATTCT	0.448000														37			33		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200878023	200878023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:200878023C>T	uc001gvo.3	+	6	1037	c.995C>T	c.(994-996)cCc>cTc	p.P332L	C1orf106_uc010ppm.2_Missense_Mutation_p.P247L	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	332	Pro-rich.							p.P332S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGGACCACCCCTATGAGAAG	0.637000														71			7		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66110653	66110654	+	RNA	DNP	GG	AA	AA			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:66110653_66110654GG>AA	uc002jgq.3	+	3		c.744_745GG>AA								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CCTTGACTACGGAGGGGTTGCC	0.391000														14			11		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382568	382568	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:382568C>T	uc003bot.3	+	5	1119	c.477C>T	c.(475-477)ctC>ctT	p.L159L	CHL1_uc003bou.3_Silent_p.L159L|CHL1_uc003bow.2_Silent_p.L159L|CHL1_uc011asi.2_Silent_p.L159L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	159	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCAAAGGCCTCCCACCTTTAC	0.393000														19			16		0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530536	39530536	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr22:39530536G>A	uc003axb.3	-	4	557	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CBX7_uc003axc.3_Intron	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	156					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CGCGGGGCGGGAACTTCTTGC	0.701000														5			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996486	20996486	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:20996486G>A	uc010vbe.2	-	47	7578	c.7578C>T	c.(7576-7578)atC>atT	p.I2526I	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2526	AAA 4 (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)		TCTTCTCCACGATGTCAGCCT	0.473000														24			26		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088095	92088095	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:92088095C>T	uc001xzs.1	-	18	2257	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K	CATSPERB_uc010aub.1_Missense_Mutation_p.R228K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	706					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)				TCGTCCATTCCTTTGCCCAAA	0.373000														47			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34087782	34087782	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:34087782G>C	uc001bxm.1	-	36	5989	c.5812C>G	c.(5812-5814)Cac>Gac	p.H1938D	CSMD2_uc001bxn.1_Missense_Mutation_p.H1898D|CSMD2_uc001bxo.1_Missense_Mutation_p.H811D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1898	Sushi 11.					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)				TACTCCAAGTGGAAGCCAGCT	0.517000														108			79		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076324	11076324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:11076324G>A	uc010hdq.3	+	14	2046	c.1635G>A	c.(1633-1635)atG>atA	p.M545I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	545					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGTCTTCCATGGTCCTCATCC	0.552000														59			42		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833255	168833255	+	Missense_Mutation	SNP	C	T	T	rs139044661		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:168833255C>T	uc011bpj.1	-	7	2808	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	MECOM_uc010hwk.1_Missense_Mutation_p.G637E|MECOM_uc003ffj.3_Missense_Mutation_p.G679E|MECOM_uc003ffi.3_Missense_Mutation_p.G614E|MECOM_uc011bpi.1_Missense_Mutation_p.G615E|MECOM_uc003ffn.3_Missense_Mutation_p.G614E|MECOM_uc003ffk.2_Missense_Mutation_p.G614E|MECOM_uc003ffl.2_Missense_Mutation_p.G774E|MECOM_uc011bpk.1_Missense_Mutation_p.G614E|MECOM_uc010hwn.2_Missense_Mutation_p.G802E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	23							sequence-specific DNA binding transcription factor activity	p.G614E(1)		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						GACGTTGCTTCCTTTTTTTCC	0.488000														18			10		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037112	129037112	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:129037112C>T	uc003kvb.1	+	19	2968	c.2968C>T	c.(2968-2970)Cga>Tga	p.R990*	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.	990	TSP type-1 3.				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)		CCCTTGTTCACGAACTTGTGG	0.458000														178			36		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33954713	33954713	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:33954713C>T	uc002hjr.3	+	8	1312	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AP2B1_uc002hjq.3_Missense_Mutation_p.R375W|AP2B1_uc010wci.2_Missense_Mutation_p.R337W|AP2B1_uc002hjs.3_Missense_Mutation_p.R318W|AP2B1_uc002hjt.3_Missense_Mutation_p.R375W|AP2B1_uc010ctv.3_Missense_Mutation_p.R375W|AP2B1_uc010wcj.2_Missense_Mutation_p.R112W	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	375					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|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAAGCTGTGCGGGCCATTGG	0.438000														65			3		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250640	86250640	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:86250640C>T	uc022axc.1	-	1	155	c.76G>A	c.(76-78)Gga>Aga	p.G26R	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.G26R|CA1_uc022axd.1_Missense_Mutation_p.G26R|CA1_uc010mae.2_Missense_Mutation_p.G26R|CA1_uc003ydi.3_Missense_Mutation_p.G26R	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	26					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)	TGGTTATTTCCATTGGCAATG	0.418000														20			46		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859932	43859933	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:43859932_43859933GG>AA	uc002owi.3	+	3	541_542	c.499_500GG>AA	c.(499-501)gga>AAa	p.G167K	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	167	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAGGCTCAGGGGAGGTAAGCCT	0.589000														39			24		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527908	207527908	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:207527908C>T	uc002vbr.1	-	10	1469	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	451						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCTGGATTTCGCAGAGCATG	0.473000														22			6		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6425049	6425049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:6425049G>A	uc001mdb.1	-	2	825	c.725C>T	c.(724-726)tCc>tTc	p.S242F	APBB1_uc001mdd.3_Missense_Mutation_p.S22F|APBB1_uc001mdc.1_Missense_Mutation_p.S242F|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.S7F|APBB1_uc009yey.2_5'UTR|APBB1_uc009yfa.2_5'UTR|APBB1_uc010rag.1_5'UTR|APBB1_uc009yfb.2_5'UTR|APBB1_uc001mde.2_5'UTR|APBB1_uc010rah.1_5'UTR	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	242					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.S242F(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTTCCAGAAGGAATCTGCCAG	0.602000														28			16		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42700018	42700018	+	Missense_Mutation	SNP	C	T	T	rs45477803	byFrequency	TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:42700018C>T	uc021xxv.1	+	5	690	c.553C>T	c.(553-555)Cca>Tca	p.P185S	GHR_uc003jmt.3_Missense_Mutation_p.P178S|GHR_uc003jmu.3_Missense_Mutation_p.P178S|GHR_uc003jmv.2_Missense_Mutation_p.P178S|GHR_uc021xxw.1_Missense_Mutation_p.P178S|GHR_uc021xxx.1_Missense_Mutation_p.P178S|GHR_uc021xxy.1_Missense_Mutation_p.P178S|GHR_uc021xxz.1_Missense_Mutation_p.P178S|GHR_uc021xya.1_Missense_Mutation_p.P178S|GHR_uc021xyb.1_Missense_Mutation_p.P178S|GHR_uc021xyc.1_Missense_Mutation_p.P178S|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.P156S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	178	Fibronectin type-III.				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)	ATGGGAAGCACCACGCAATGC	0.413000														12			16		0	0	1	0	0
WFDC10A	140832	broad.mit.edu	37	20	44258500	44258500	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:44258500G>A	uc002xoz.3	+	0	116	c.48G>A	c.(46-48)ctG>ctA	p.L16L	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	16						extracellular region	serine-type endopeptidase inhibitor activity	p.L15L(1)		large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				GTGTGCTGCTGCTGCAGGCCC	0.592000											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			10		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113670619	113670619	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:113670619G>A	uc002tij.3	+	0	72	c.30G>A	c.(28-30)gtG>gtA	p.V10V	IL37_uc002tim.3_Silent_p.V10V|IL37_uc002tik.3_Silent_p.V10V|IL37_uc002til.3_Silent_p.V10V|IL37_uc002tin.3_5'Flank	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	10					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ACTCAGGAGTGAAAATGGGCT	0.438000														36			32		0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132319	7132319	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:7132319G>A	uc002gez.1	-	8	1285	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	DVL2_uc010vtr.1_Missense_Mutation_p.R329W	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	335	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCAGCACCCGCACAGCGTCA	0.532000														47			3		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496753	20496753	+	RNA	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:20496753C>T	uc001ytf.1	+	5		c.806C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTCTTTGAGTCTGTTTTTTAT	0.378000														5			2		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849185	52849185	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:52849185G>A	uc001ctt.3	-	12	2151	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	ORC1_uc010oni.2_Silent_p.P635P|ORC1_uc001ctu.3_Silent_p.P640P	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	640	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTTATGAGTGGGCCAGTCAA	0.527000														44			33		0	0	1	0	0
GOLGA6L9	440295	broad.mit.edu	37	15	85787938	85787938	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:85787938G>T	uc010upj.1	+	5	746	c.681G>T	c.(679-681)caG>caT	p.Q227H	AK301968_uc010upk.1_5'Flank	NM_198181	NP_937824	A6NEM1	GG6L9_HUMAN	Homo sapiens golgin A6 family-like 9 (GOLGA6L9), mRNA.	239																	TACGTGAACAGGAGGAGAGGC	0.567000														9			4		0.00909568	0.00911786	1	1	0
MMP7	4316	broad.mit.edu	37	11	102398352	102398352	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:102398352C>T	uc001phb.3	-	2	434	c.387G>A	c.(385-387)gtG>gtA	p.V129V	MMP7_uc009yxd.3_Silent_p.V129V|MMP7_uc010rus.1_Silent_p.V129V	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	129					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		AAGCCTTTGACACTAATCGAT	0.438000														182			94		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121212313	121212313	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:121212313A>G	uc001led.3	+	13	1768	c.1535A>G	c.(1534-1536)cAa>cGa	p.Q512R	GRK5_uc009xzh.3_Missense_Mutation_p.Q377R	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	512	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ATCCCATGGCAAAACGAGGTG	0.582000														16			17		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187531505	187531505	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:187531505C>T	uc002upq.3	+	21	2517	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ITGAV_uc010frs.3_Silent_p.I711I|ITGAV_uc010zfv.2_Silent_p.I701I	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	747					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTACAAATCCAAAGGTATG	0.299000														21			32		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7766907	7766907	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:7766907A>C	uc003jdz.1	+	16	2269	c.2202A>C	c.(2200-2202)ttA>ttC	p.L734F	ADCY2_uc011cmo.1_Missense_Mutation_p.L554F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	734					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						CGCAGAATTTATTTTTCCTCC	0.428000														233			7		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175892	57175892	+	Silent	SNP	G	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:57175892G>T	uc010ygn.2	-	1	902	c.675C>A	c.(673-675)gcC>gcA	p.A225A		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGGCGCACGCGT	0.711000														7			18		2.35188e-11	2.38672e-11	1	1	0
KIF1C	10749	broad.mit.edu	37	17	4907163	4907163	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:4907163T>G	uc002gan.2	+	9	1173	c.816T>G	c.(814-816)aaT>aaG	p.N272K		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	272	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCAACATCAATAAGTCCCTGA	0.532000														52			4		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591900	124591900	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:124591900G>A	uc001lgs.3	-	10	2669	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	CUZD1_uc001lgp.3_Missense_Mutation_p.S292F|CUZD1_uc009yad.3_Missense_Mutation_p.S292F|CUZD1_uc009yaf.3_Missense_Mutation_p.S207F|CUZD1_uc001lgr.3_Missense_Mutation_p.S292F|CUZD1_uc010qty.2_Missense_Mutation_p.S292F|CUZD1_uc009yae.3_Missense_Mutation_p.S292F|CUZD1_uc010qtz.2_Missense_Mutation_p.S573F	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	573					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.S573F(2)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AACCATGAAGGAAAACAGATG	0.408000														67			43		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358538	124358538	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:124358538C>T	uc001lgk.1	+	25	3311	c.3205C>T	c.(3205-3207)Ctg>Ttg	p.L1069L	DMBT1_uc001lgl.1_Silent_p.L1059L|DMBT1_uc001lgm.1_Silent_p.L570L|DMBT1_uc021qaf.1_Silent_p.L1069L|DMBT1_uc021qag.1_Silent_p.L1059L|DMBT1_uc021qah.1_Silent_p.L570L|DMBT1_uc009xzz.1_Silent_p.L1069L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.L30L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1069	SRCR 8.			L -> P (in Ref. 1; CAA04019 and 2; AAD49696).	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)				CGAGTCTTACCTGTGGAGCTG	0.587000														73			53		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26830607	26830607	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr10:26830607T>C	uc001iss.3	+	10	1462	c.1141T>C	c.(1141-1143)Tgc>Cgc	p.C381R	APBB1IP_uc009xks.1_Missense_Mutation_p.C381R	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	381	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CACTGACTATTGCTTTGTTTT	0.294000														7			8		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695808	13695808	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:13695808C>G	uc002woj.3	-	13	2377	c.2269G>C	c.(2269-2271)Gtt>Ctt	p.V757L		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	757	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						GCATCGTTAACATTTACCTGC	0.338000														6			11		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678325	25678325	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr4:25678325G>A	uc003grr.3	+	12	2108	c.2027G>A	c.(2026-2028)gGt>gAt	p.G676D	SLC34A2_uc003grs.3_Missense_Mutation_p.G675D|SLC34A2_uc010iev.3_Missense_Mutation_p.G675D	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	676					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GAGGCTCAGGGTGAGGTCCCT	0.577000			T	ROS1	NSCLC									33			25		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66044898	66044898	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:66044898A>T	uc011dxu.1	-	10	2279	c.1741T>A	c.(1741-1743)Tgt>Agt	p.C581S	EYS_uc003peq.3_Missense_Mutation_p.C581S|EYS_uc003per.1_Missense_Mutation_p.C581S|EYS_uc021zbn.1_Missense_Mutation_p.C581S	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	581	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCATCTTTACAAACAGCTTCA	0.318000														4			5		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50004013	50004013	+	Missense_Mutation	SNP	C	T	T	rs142499788		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:50004013C>T	uc010ria.2	-	0	59	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(2)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAAATGAATTCAGTCACATTC	0.343000														12			11		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596453	24596453	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:24596453A>G	uc011djo.2	-	2	949	c.449T>C	c.(448-450)cTa>cCa	p.L150P	KIAA0319_uc011djp.2_Missense_Mutation_p.L105P|KIAA0319_uc003neh.1_Missense_Mutation_p.L150P|KIAA0319_uc011djq.1_Missense_Mutation_p.L141P|KIAA0319_uc011djr.1_Missense_Mutation_p.L150P	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	150					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						CATCTCCTCTAGGCCCCAATC	0.577000														245			67		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504852	125504852	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:125504852C>T	uc010flu.3	+	13	2488	c.2124C>T	c.(2122-2124)caC>caT	p.H708H	CNTNAP5_uc002tno.3_Silent_p.H707H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	707	Fibrinogen C-terminal.				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)		ATGAAAGGCACCCTTACTGGG	0.542000														14			15		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102448155	102448155	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:102448155A>T	uc001phc.3	-	9	1367	c.1354T>A	c.(1354-1356)Tac>Aac	p.Y452N		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	452	Hemopexin-like 4.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AAGTAAATGTAGCCTAAAAGA	0.363000														20			24		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030984	197030984	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:197030984C>T	uc001gtt.1	-	2	425	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	127	Sushi 2.				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						CTTCATCCTTCCCTCCAGTGG	0.393000														13			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69009287	69009287	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:69009287G>A	uc003xxv.1	+	21	2431	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	PREX2_uc003xxu.1_Missense_Mutation_p.D802N|PREX2_uc011lez.1_Missense_Mutation_p.D737N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	802					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						GGCCATCATTGATGGGAAGAA	0.408000														25			76		0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47799872	47799872	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:47799872G>A	uc002ipk.3	-	2	520	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	FAM117A_uc010wlz.2_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	151										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TCTTTTCGGTGGTCTGTGCTG	0.582000														14			10		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2465042	2465042	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:2465042T>A	uc002wge.1	-	5	1053	c.565A>T	c.(565-567)Acc>Tcc	p.T189S	ZNF343_uc010gao.1_Missense_Mutation_p.T189S|ZNF343_uc002wgd.1_Missense_Mutation_p.T99S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	189					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						GCCCTTGAGGTTTCTCTCTCC	0.517000														30			34		0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48833008	48833008	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr13:48833008C>T	uc001vbz.3	+	4	863	c.640C>T	c.(640-642)Cac>Tac	p.H214Y		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	214	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		AAACATTGATCACCTGGGTTT	0.353000														13			22		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926222	50926222	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:50926222C>T	uc002psd.3	+	3	292	c.267C>T	c.(265-267)ctC>ctT	p.L89L	SPIB_uc021uyc.1_Missense_Mutation_p.S70L|SPIB_uc002pse.3_Silent_p.L89L|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	89					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CAGGGAACCTCGAACTGGCCC	0.647000														87			32		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44224002	44224002	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:44224002G>A	uc002oxh.3	+	1	1439	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	IRGC_uc021uvh.1_Missense_Mutation_p.G431E	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	431						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCCGGGGAGGGAGGTGGGGAG	0.587000														34			13		0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28309810	28309810	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:28309810G>A	uc003xgu.3	-	5	789	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.R218C	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	231										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TAATTAAAACGAATGATATCT	0.423000														4			25		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46827084	46827084	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:46827084C>A	uc003oyo.3	-	16	2845	c.2556G>T	c.(2554-2556)caG>caT	p.Q852H	GPR116_uc011dwj.1_Missense_Mutation_p.Q407H|GPR116_uc011dwk.1_Missense_Mutation_p.Q281H|GPR116_uc003oyp.3_Missense_Mutation_p.Q710H|GPR116_uc003oyq.3_Missense_Mutation_p.Q852H|GPR116_uc010jzi.1_Missense_Mutation_p.Q524H	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	852					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGCTGCTCATCTGCACATTAG	0.458000														21			14		3.73148e-12	3.79613e-12	1	1	0
GBP6	163351	broad.mit.edu	37	1	89848403	89848403	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:89848403G>A	uc001dnf.2	+	7	1607	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	GBP6_uc010ost.1_Missense_Mutation_p.D315N	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	445							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GATTGAACAGGACTATTGGCA	0.463000														15			19		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412636	38412636	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:38412636C>T	uc003jlc.2	+	10	1726	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	EGFLAM_uc003jlb.2_Silent_p.I460I|EGFLAM_uc003jle.2_Silent_p.I226I|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	460	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGCCATCATCGTAAGTGAGA	0.488000														36			17		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629389	67629389	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr15:67629389C>T	uc002aqo.2	+	4	561	c.464C>T	c.(463-465)cCc>cTc	p.P155L	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	155										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)		TGCACAGATCCCTATTTCACT	0.378000														45			20		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4398035	4398035	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:4398035C>T	uc001qmo.3	+	3	904	c.599C>T	c.(598-600)tCg>tTg	p.S200L		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	200					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TACCCACCGTCGATGATCGCA	0.552000			T	IGL@	"""NHL,CLL"""									126			65		0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19359527	19359527	+	Silent	SNP	T	C	C			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr18:19359527T>C	uc002ktq.3	+	5	789	c.789T>C	c.(787-789)tcT>tcC	p.S263S	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	263					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)			TTGTACAGTCTTTGCAGCATG	0.428000														99			93		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758886	121758886	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:121758886G>A	uc003ksw.1	+	3	660	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E152K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E199K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E152K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	152					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)		CGACATGGATGAGATTCTGGA	0.507000														49			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727129	40727129	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr20:40727129A>T	uc002xkg.3	-	26	3962	c.3778T>A	c.(3778-3780)Ttc>Atc	p.F1260I	PTPRT_uc010ggj.3_Missense_Mutation_p.F1279I|PTPRT_uc010ggi.3_Missense_Mutation_p.F463I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1260	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.D1260H(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)				AGCCTCCAGAAGTCTGCCACG	0.562000														41			46		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945520	48945520	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:48945520C>T	uc002pjc.4	+	11	2642	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	GRIN2D_uc010elx.3_Missense_Mutation_p.L87F	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	852						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTTCTACATGCTCCTGGTGGC	0.627000														82			72		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639278	149639278	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chrX:149639278C>T	uc011mxu.2	+	2	1668	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	MAMLD1_uc011mxt.1_Missense_Mutation_p.S440F|MAMLD1_uc004fee.2_Missense_Mutation_p.S478F|MAMLD1_uc011mxv.2_Missense_Mutation_p.S453F|MAMLD1_uc011mxw.2_Missense_Mutation_p.S405F	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	478					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGTGTTCCCTGATCCGA	0.577000														3			45		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088581	94088581	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:94088581C>T	uc001ybv.1	+	27	4620	c.4537C>T	c.(4537-4539)Ccc>Tcc	p.P1513S	UNC79_uc001ybs.1_Missense_Mutation_p.P1491S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1668						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCCTCTTCTCCCTCCGTCCC	0.542000														28			13		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75052643	75052643	+	Silent	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr14:75052643C>T	uc001xqa.3	-	2	1131	c.744G>A	c.(742-744)agG>agA	p.R248R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	248					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)		CCGCACTGCTCCTGCGCAGGT	0.667000														14			18		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														32			9		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231235650	231235650	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr2:231235650G>A	uc010fxm.1	+	5	642	c.551G>A	c.(550-552)aGg>aAg	p.R184K	SP140L_uc010fxn.2_Missense_Mutation_p.R97K|SP140L_uc010fxo.1_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	184						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGAAGCAAGGAAGGAAAGT	0.552000														17			8		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182969	18182969	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:18182969C>T	uc002nhx.1	-	9	1145	c.1094G>A	c.(1093-1095)gGt>gAt	p.G365D	IL12RB1_uc002nhw.1_Missense_Mutation_p.G325D|IL12RB1_uc010xqb.1_Missense_Mutation_p.G325D|IL12RB1_uc002nhy.3_Missense_Mutation_p.G325D	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	325	Fibronectin type-III 4.		M -> T (in dbSNP:rs375947).		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						CAGGCCAGGACCAAATTGGTT	0.627000														20			16		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191601	48191601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:48191601C>T	uc002iqf.3	-	8	1275	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SAMD14_uc002iqe.3_Missense_Mutation_p.E81K|SAMD14_uc002iqg.3_Missense_Mutation_p.E298K	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	298	SAM.									breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CATTTGGCCTCCTGCCAGGGC	0.592000														29			32		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504541	157504541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:157504541C>T	uc009wsm.3	-	7	1702	c.1544G>A	c.(1543-1545)tGg>tAg	p.W515*	FCRL5_uc001fqu.3_Nonsense_Mutation_p.W515*|FCRL5_uc010phv.1_Nonsense_Mutation_p.W515*|FCRL5_uc010phw.1_Nonsense_Mutation_p.W430*|FCRL5_uc001fqv.1_Nonsense_Mutation_p.W515*|FCRL5_uc010phx.2_Nonsense_Mutation_p.W266*	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	515	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGCTGCTCCACAGGGGCAT	0.498000														29			3		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002855	122002855	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr3:122002855G>A	uc003eew.4	+	6	2522	c.2084G>A	c.(2083-2085)gGc>gAc	p.G695D	CASR_uc003eev.4_Missense_Mutation_p.G685D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	685					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)	CCGGCCTTTGGCATCAGCTTC	0.607000														39			40		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026335	43026335	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:43026335G>A	uc002otv.3	-	2	579	c.444C>T	c.(442-444)tcC>tcT	p.S148S	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Silent_p.S148S|CEACAM1_uc002otw.3_Silent_p.S148S|CEACAM1_uc002otx.3_Silent_p.S148S|CEACAM1_uc002oty.3_Silent_p.S148S|CEACAM1_uc002otz.3_Silent_p.S148S|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.S148S|CEACAM1_uc002oub.3_Silent_p.S148S|CEACAM1_uc002ouc.3_Silent_p.S148S	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	148	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGCTGGAGATGGAGGGCTTGG	0.488000														128			87		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89925586	89925586	+	Missense_Mutation	SNP	C	T	T	rs138861470		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:89925586C>T	uc002foz.1	+	8	1338	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	SPIRE2_uc010civ.1_Missense_Mutation_p.P344L|SPIRE2_uc010ciw.1_Missense_Mutation_p.P429L|SPIRE2_uc002fpa.1_Missense_Mutation_p.P381L|SPIRE2_uc010cix.1_Missense_Mutation_p.P296L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	429					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAAGAGTCTCCGTGTGGGGAG	0.652000														30			26		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424063	125424063	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:125424063T>A	uc022bmz.1	+	0	69	c.69T>A	c.(67-69)gaT>gaA	p.D23E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K23R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GACCTGAGGATCAGAAGCCGC	0.478000														19			15		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262068	158262068	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr1:158262068G>A	uc001fru.3	+	2	815	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	175					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGCGTCACAGAAACAGTGTA	0.463000														107			244		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr17:76450748G>A	uc010dhp.2	-	63	10335	c.10210C>T	c.(10210-10212)Ctg>Ttg	p.L3404L	DNAH17_uc002jvs.3_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)			TCTGTCAGCAGGCTCAAGGGA	0.587000														71			25		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580374	120580374	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr12:120580374G>A	uc001txo.3	-	43	5779	c.5766C>T	c.(5764-5766)atC>atT	p.I1922I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1922					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGTGGGTAGGATCTCACGCA	0.592000														40			43		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131846956	131846956	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr9:131846956C>T	uc004bxc.3	+	1	114	c.86C>T	c.(85-87)tCt>tTt	p.S29F	DOLPP1_uc004bxd.3_Missense_Mutation_p.S29F|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	29					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGTGATCTCTCTGGCCACCTC	0.547000														336			257		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537450	5537450	+	Silent	SNP	G	A	A			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:5537450G>A	uc001maz.4	-	0	507	c.222C>T	c.(220-222)ttC>ttT	p.F74F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	74	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGCAACCCATGAAGACCAGCA	0.498000														15			12		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129786364	129786365	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr6:129786364_129786365insT	uc021zfb.1	+	50	7335_7336	c.7230_7231insT	c.(7228-7233)tccgttfs	p.S2410fs	LAMA2_uc003qbn.3_Frame_Shift_Ins_p.S2408fs|LAMA2_uc003qbo.3_Frame_Shift_Ins_p.S2408fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2410	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGGCTTCCGTTGTCAGCAA	0.386													---	3	---	---	5	---					
FIGNL1	63979	broad.mit.edu	37	7	50513275	50513275	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr7:50513275delA	uc003tpd.3	-	3	2081	c.1711delT	c.(1711-1713)tcafs	p.S571fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.S460fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.S571fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.S571fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.S571fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.S571fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	571					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTCCTGGCTGAAGCTTCTGGG	0.443													---	31	---	---	41	---					
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	-	-	rs62519837		TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr8:65494021_65494023delGCA	uc003xvi.3	+	0	1227_1229	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(2)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													---	4	---	---	2	---					
IGHMBP2	3508	broad.mit.edu	37	11	68704380	68704380	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr11:68704380delC	uc001ook.1	+	12	2534	c.2432delC	c.(2431-2433)accfs	p.T811fs	IGHMBP2_uc001ool.1_Frame_Shift_Del_p.T435fs|IGHMBP2_uc001oom.1_Frame_Shift_Del_p.T389fs	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	811	Gln/Pro-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCCCCCTACCCCTGCGCAG	0.697													---	11	---	---	39	---					
APOBR	55911	broad.mit.edu	37	16	28506895	28506897	+	In_Frame_Del	DEL	AGG	-	-			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:28506895_28506897delAGG	uc002dqb.2	+	1	566_568	c.533_535delAGG	c.(532-537)caggag>cag	p.E184del	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	184	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCTGGGAACAGGAGGAGGAGGA	0.635													---	4	---	---	2	---					
ZNF646	9726	broad.mit.edu	37	16	31092264	31092264	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr16:31092264delA	uc002eap.3	+	1	4908	c.4619delA	c.(4618-4620)tacfs	p.Y1540fs	ZNF646_uc021tgu.1_Frame_Shift_Del_p.Y1540fs	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCAAGACTTACTGCCAGTCA	0.537													---	65	---	---	47	---					
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	-	-			TCGA-DA-A3F3-06A-11D-A20D-08	TCGA-DA-A3F3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507620ef-f0fc-4ac3-a7c0-ea2e36c40f77	a2815430-61e0-48a8-8e07-ae14019aa8e3	g.chr19:50155916_50155918delCCT	uc002poq.3	+	6	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcctcc>gcc	p.S763del		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	763	Ser-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.690													---	6	---	---	3	---