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
CTAGE1	64693	broad.mit.edu	37	18	19997484	19997484	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr18:19997484C>T	uc002ktv.1	-	0	395	c.291G>A	c.(289-291)ttG>ttA	p.L97L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	97						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGTTGCCTCCAAACTTTGTG	0.368000														113			73		0	0	0.003610	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222293	118222293	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:118222293G>A	uc004era.4	-	10	2900	c.2900C>T	c.(2899-2901)cCa>cTa	p.P967L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	967										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGCTCTTTGGAGATGAGGA	0.458000														35			23		0	0	0.002780	0	0
PRSS57	400668	broad.mit.edu	37	19	691996	691996	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:691996G>A	uc002lpl.1	-	2	274	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PRSS57_uc010xfs.1_Silent_p.L80L	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	Homo sapiens protease, serine, 57 (PRSS57), mRNA.	81	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGCCAGTGCGGAGGTCTCTGC	0.672000														5			13		0	0	0.002450	0	0
CPEB3	22849	broad.mit.edu	37	10	93851681	93851681	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:93851681G>A	uc001khw.2	-	7	1797	c.1593C>T	c.(1591-1593)aaC>aaT	p.N531N	CPEB3_uc001khu.2_Silent_p.N540N|CPEB3_uc001khv.2_Silent_p.N517N|CPEB3_uc010qnn.2_Silent_p.N517N	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	531	RRM 1.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TGTCACTTAGGTTCCATGGTC	0.433000														12			21		0	0	0.002780	0	0
EPHA6	285220	broad.mit.edu	37	3	97356761	97356761	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:97356761C>T	uc010how.1	+	13	2662	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Silent_p.L265L|EPHA6_uc003drr.4_Silent_p.L265L|EPHA6_uc003drt.3_Silent_p.L265L|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	778	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCGGAATGCTCCGAGGCATTG	0.428000														164			24		0	0	0.007291	0	0
DNAH9	1770	broad.mit.edu	37	17	11648187	11648187	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:11648187C>T	uc002gne.3	+	30	6253	c.6185C>T	c.(6184-6186)cCt>cTt	p.P2062L	DNAH9_uc010coo.3_Missense_Mutation_p.P1356L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2062					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2062S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGGAGACCCTGACCGGCCT	0.577000														19			15		0	0	0.004007	0	0
GABRG1	2565	broad.mit.edu	37	4	46043129	46043129	+	Missense_Mutation	SNP	C	T	T	rs75184362		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:46043129C>T	uc003gxb.3	-	8	1426	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	425					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T424K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCTCCAAGATCCTGTTCTGCA	0.408000														60			51		0	0	0.003610	0	0
FANCE	2178	broad.mit.edu	37	6	35427183	35427183	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:35427183C>T	uc003oko.1	+	5	1374	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	FANCE_uc010jvw.1_Missense_Mutation_p.P390S	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	397					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATATACATACCCTGTCTGCAG	0.567000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					51			21		0	0	0.010504	0	0
KRT78	196374	broad.mit.edu	37	12	53237949	53237949	+	Silent	SNP	C	T	T	rs140207612		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:53237949C>T	uc001sbc.1	-	5	1039	c.975G>A	c.(973-975)acG>acA	p.T325T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	325	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGGACTTTCGTTTCCTGCA	0.532000														104			51		0	0	0.003610	0	0
OPCML	4978	broad.mit.edu	37	11	132812919	132812919	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:132812919G>A	uc010sck.2	-	0	119	c.69C>T	c.(67-69)ttC>ttT	p.F23F	OPCML_uc001qgu.3_Intron|OPCML_uc001qgs.3_Silent_p.F23F|OPCML_uc001qgt.3_Silent_p.F23F|OPCML_uc010scl.2_Intron	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	23					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGGGTACAAGGAACAGCAGCC	0.632000														41			15		0	0	0.004007	0	0
WDR17	116966	broad.mit.edu	37	4	177067188	177067188	+	Silent	SNP	T	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:177067188T>A	uc003iuj.3	+	12	1947	c.1644T>A	c.(1642-1644)gtT>gtA	p.V548V	WDR17_uc003ium.4_Silent_p.V524V|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	548										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATGTTCGTGTTTATTATGTAG	0.353000														28			21		0	0	0.002780	0	0
CD80	941	broad.mit.edu	37	3	119256060	119256060	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:119256060C>G	uc003ecq.3	-	3	1019	c.624G>C	c.(622-624)atG>atC	p.M208I	CD80_uc010hqt.1_Missense_Mutation_p.M208I|CD80_uc010hqu.1_Intron	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	208	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GGTTGGTTGTCATATTGAAAT	0.403000														44			80		0	0	0.003610	0	0
DOK1	1796	broad.mit.edu	37	2	74782574	74782574	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:74782574C>T	uc002sms.3	+	1	724	c.354C>T	c.(352-354)gcC>gcT	p.A118A	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_5'UTR|DOK1_uc010ffo.3_5'UTR|DOK1_uc002smt.3_5'UTR|DOK1_uc002smu.3_5'UTR|DOK1_uc010yrz.2_Silent_p.A107A|DOK1_uc002smw.1_5'UTR	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	118	PH.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGAAACGCCTTTCCGGTGA	0.682000														12			14		0	0	0.001855	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944062	74944062	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:74944062T>C	uc002jti.3	+	14	2204	c.2101T>C	c.(2101-2103)Tgg>Cgg	p.W701R	MGAT5B_uc002jth.3_Missense_Mutation_p.W690R|MGAT5B_uc002jtj.3_Missense_Mutation_p.W97R	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	692						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGGCCTGGCTGGCCGT	0.697000														14			7		0	0	0.001984	0	0
APBA2	321	broad.mit.edu	37	15	29346463	29346463	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr15:29346463G>T	uc001zck.3	+	2	580	c.376G>T	c.(376-378)Gca>Tca	p.A126S	APBA2_uc010azj.2_Missense_Mutation_p.A126S|APBA2_uc010uat.2_Missense_Mutation_p.A126S|APBA2_uc001zcl.3_Missense_Mutation_p.A126S|APBA2_uc010uas.1_Missense_Mutation_p.A126S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	126					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCCCACAGTGCACACCCTGT	0.657000														62			16		9.16793e-09	9.52466e-09	0.004990	1	0
SPEG	10290	broad.mit.edu	37	2	220349085	220349085	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:220349085C>T	uc010fwg.3	+	29	6900	c.6900C>T	c.(6898-6900)ccC>ccT	p.P2300P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2300	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGGGGGTCCCCCGGTGCTAG	0.692000														14			12		0	0	0.001855	0	0
OR52B6	340980	broad.mit.edu	37	11	5602813	5602813	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:5602813C>T	uc010qzi.2	+	0	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTACTGTTTCCTACATCCAC	0.502000														150			41		0	0	0.009718	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879438	39879438	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:39879438G>A	uc009vvt.1	+	0	4263	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1031	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCCCCGAGGAATCTGCCT	0.667000														28			5		0	0	0.001984	0	0
ZNF718	255403	broad.mit.edu	37	4	59415	59415	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:59415G>A	uc003fzv.1	+	1	252	c.96G>A	c.(94-96)gtG>gtA	p.V32V	ZNF718_uc003fzt.4_Silent_p.V32V|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATAGAGATGTGATGTTGGAGA	0.428000														462			35		0	0	0.004878	0	0
NEB	4703	broad.mit.edu	37	2	152500514	152500514	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:152500514C>T	uc021vrb.1	-	54	7803	c.7774G>A	c.(7774-7776)Gac>Aac	p.D2592N	NEB_uc002txu.3_Missense_Mutation_p.D2592N|NEB_uc021vrc.1_Missense_Mutation_p.D2592N|NEB_uc010fnx.3_Missense_Mutation_p.D2592N|NEB_uc021vrd.1_Missense_Mutation_p.D2592N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2592					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCAAAGTCCTTCTTGTAC	0.542000														352			132		0	0	0.003610	0	0
TNFRSF8	943	broad.mit.edu	37	1	12183362	12183362	+	Missense_Mutation	SNP	C	T	T	rs148865579		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:12183362C>T	uc001atq.3	+	8	1190	c.968C>T	c.(967-969)aCc>aTc	p.T323I	TNFRSF8_uc010obc.2_Missense_Mutation_p.T212I|TNFRSF8_uc001atr.3_5'Flank|TNFRSF8_uc001ats.3_5'Flank	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	323					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGACACCACCTTTGAGGCG	0.612000														17			16		0	0	0.006122	0	0
PASK	23178	broad.mit.edu	37	2	242077391	242077391	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:242077391G>A	uc002wao.2	-	5	986	c.853C>T	c.(853-855)Cct>Tct	p.P285S	PASK_uc010zol.2_Missense_Mutation_p.P99S|PASK_uc010zom.2_Missense_Mutation_p.P250S|PASK_uc010fzl.2_Missense_Mutation_p.P285S|PASK_uc010zon.2_Missense_Mutation_p.P66S|PASK_uc021vzf.1_Missense_Mutation_p.P285S|PASK_uc002waq.3_Missense_Mutation_p.P285S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	285					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAGAAGGAGGGAGCTGC	0.562000														37			28		0	0	0.006320	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095737	135095737	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:135095737A>C	uc010qvc.1	-	16	2840	c.2483T>G	c.(2482-2484)cTc>cGc	p.L828R	TUBGCP2_uc001lmf.1_Missense_Mutation_p.L393R|TUBGCP2_uc001lmg.1_Missense_Mutation_p.L800R|TUBGCP2_uc010qvd.1_Missense_Mutation_p.L670R|TUBGCP2_uc009ybk.1_Missense_Mutation_p.L823R|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	800					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTTCCTGGCGAGCTCCTTCCG	0.682000														8			8		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	106848908	106848908	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:106848908G>A	uc021ser.1	-	471		c.14156_splice	c.e471-1							Parts of antibodies, mostly variable regions.																		GGTGAATCCAGAGGCTGCAAA	0.502000														9			10		0	0	0.006214	0	0
CD80	941	broad.mit.edu	37	3	119256003	119256003	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:119256003C>G	uc003ecq.3	-	3	1076	c.681G>C	c.(679-681)caG>caC	p.Q227H	CD80_uc010hqt.1_Missense_Mutation_p.Q227H|CD80_uc010hqu.1_Intron	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	227	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AGTTGAAGGTCTGATTCACTC	0.368000														41			73		0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40945307	40945307	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:40945307T>C	uc003jmh.3	+	6	689	c.575T>C	c.(574-576)aTa>aCa	p.I192T	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	192	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TAGGTGAAAATAAATAATGAT	0.303000														2			4		0	0	0.009096	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342294	60342294	+	RNA	SNP	A	C	C	rs76100965		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:60342294A>C	uc010woz.2	-	13		c.1835T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TAAGTTTAACAAAAAATAAAA	0.483000														105			4		0	0	0.004482	0	0
MAP4K3	8491	broad.mit.edu	37	2	39507459	39507459	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:39507459G>A	uc002rro.3	-	22	1759	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P	MAP4K3_uc002rrp.3_Silent_p.P535P|MAP4K3_uc010yns.2_Silent_p.P109P	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	556	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GAATTTTCAAGGGACACCCAT	0.328000														26			27		0	0	0.002096	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136259	40136259	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:40136259G>A	uc021qgf.1	-	0	1584	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	LRRC4C_uc001mxc.1_Silent_p.I524I|LRRC4C_uc001mxd.1_Silent_p.I524I|LRRC4C_uc001mxa.1_Silent_p.I528I|LRRC4C_uc001mxb.1_Silent_p.I524I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	528					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCCAATGATGATTTTGGTAG	0.478000														39			48		0	0	0.003610	0	0
TBX18	9096	broad.mit.edu	37	6	85457732	85457732	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:85457732G>A	uc003pkl.1	-	4	845	c.845C>T	c.(844-846)tCt>tTt	p.S282F	TBX18_uc010kbq.2_Missense_Mutation_p.S124F	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	282					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGATGGGAGAAAGATCGTC	0.448000														20			6		0	0	0.001168	0	0
GUCY2F	2986	broad.mit.edu	37	X	108673535	108673535	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:108673535C>T	uc022cch.1	-	7	1876	c.1791_splice	c.e7+1	p.M597_splice	GUCY2F_uc011msq.2_Splice_Site|GUCY2F_uc004eod.4_Splice_Site_p.M597_splice	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	597	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTTCTCATACCATTTCGAAC	0.378000														66			83		0	0	0.003610	0	0
MRC2	9902	broad.mit.edu	37	17	60757548	60757548	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:60757548C>T	uc002jad.3	+	14	2718	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	772	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCACAATTTCGACCGGAGCC	0.647000														35			41		0	0	0.009718	0	0
QPRT	23475	broad.mit.edu	37	16	29708339	29708339	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:29708339C>G	uc002dto.3	+	2	650	c.572C>G	c.(571-573)gCg>gGg	p.A191G	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	191					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCCAGACAGGCGGCTGACTTC	0.687000														18			12		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214118	140214118	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:140214118G>A	uc003lhq.2	+	0	150	c.150G>A	c.(148-150)caG>caA	p.Q50Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.Q50Q	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	63	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCGCAGGACCTGGGGC	0.592000														22			71		0	0	0.003610	0	0
MCM10	55388	broad.mit.edu	37	10	13224936	13224936	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:13224936A>G	uc001ima.3	+	7	1065	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	MCM10_uc001imb.3_Missense_Mutation_p.K312E|MCM10_uc001imc.3_Missense_Mutation_p.K312E	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	313					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GTTCCAGGGAAAAACCTTCAG	0.363000														7			17		0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196694339	196694339	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:196694339C>T	uc001gtj.4	+	11	2025	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	595	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGAAATTCTCCTGCAAAC	0.393000														9			30		0	0	0.008361	0	0
ARPC1B	10095	broad.mit.edu	37	7	98985735	98985735	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:98985735G>A	uc003upz.3	+	3	363	c.243G>A	c.(241-243)ctG>ctA	p.L81L	ARPC1A_uc011kit.2_Non-coding_Transcript	NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	81					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGGACGCTGAAGGGCCGCA	0.647000														98			19		0	0	0.010504	0	0
SETD5	55209	broad.mit.edu	37	3	9517239	9517239	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:9517239C>A	uc003brt.3	+	22	4228	c.3793C>A	c.(3793-3795)Cat>Aat	p.H1265N	SETD5_uc003bru.3_Missense_Mutation_p.H1167N|SETD5_uc003brv.3_Missense_Mutation_p.H1154N|SETD5_uc010hck.3_Missense_Mutation_p.H747N|SETD5_uc003brx.3_Missense_Mutation_p.H934N	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1265	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTCAGAGGACATCCTACACA	0.507000														63			8		0.00307968	0.00315048	0.003080	1	0
WDR49	151790	broad.mit.edu	37	3	167249024	167249024	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:167249024G>A	uc003fev.1	-	8	1345	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	WDR49_uc003feu.1_Silent_p.P172P|WDR49_uc011bpd.1_Silent_p.P411P|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	347										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGGGTGGGAGGGTTGGCTTC	0.428000														66			18		0	0	0.007413	0	0
RYR1	6261	broad.mit.edu	37	19	38973691	38973691	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:38973691C>T	uc002oit.3	+	31	4775	c.4645C>T	c.(4645-4647)Cct>Tct	p.P1549S	RYR1_uc002oiu.3_Missense_Mutation_p.P1549S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1549	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TAAGCTATTTCCTGCCGTCTT	0.582000														18			49		0	0	0.003610	0	0
VPS26A	9559	broad.mit.edu	37	10	70928257	70928257	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:70928257C>T	uc001jpb.3	+	7	866	c.740C>T	c.(739-741)cCa>cTa	p.P247L	VPS26A_uc001jpc.3_Intron|VPS26A_uc009xqa.3_Missense_Mutation_p.P240L|VPS26A_uc001jpd.3_Missense_Mutation_p.P136L	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	247					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAATCAATTCCAATAAGGCTA	0.318000														22			20		0	0	0.010504	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866146	131866146	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:131866146G>A	uc003vra.4	-	17	3715	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1162	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCTTTAGGATGATGGGCG	0.562000														62			166		0	0	0.003610	0	0
RLF	6018	broad.mit.edu	37	1	40702018	40702018	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:40702018G>A	uc001cfc.4	+	7	1675	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	RLF_uc001cfd.4_Silent_p.Q239Q	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	548					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAGATATCAGAGGTGGCTTC	0.348000														43			33		0	0	0.003271	0	0
AL117485	0	broad.mit.edu	37	22	18846157	18846157	+	RNA	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr22:18846157C>T	uc002zoe.3	+	4		c.2519C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CTCTCTCCTGCGGGAGGAGGG	0.622000														50			4		0	0	0.009096	0	0
HPCAL1	3241	broad.mit.edu	37	2	10559988	10559988	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:10559988C>T	uc002raj.3	+	2	479	c.105C>T	c.(103-105)ctC>ctT	p.L35L	HPCAL1_uc002ral.3_Silent_p.L35L|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.L35L	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	35	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGGGCTTCCTCAAGGACTGCC	0.612000														30			12		0	0	0.001368	0	0
MGA	23269	broad.mit.edu	37	15	42028814	42028814	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr15:42028814C>T	uc010ucy.2	+	12	4533	c.4352C>T	c.(4351-4353)cCt>cTt	p.P1451L	MGA_uc010ucz.2_Missense_Mutation_p.P1451L|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1451						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAGGTCTGCCTTTTTATGCA	0.473000														24			14		0	0	0.001855	0	0
MED1	5469	broad.mit.edu	37	17	37563941	37563941	+	Silent	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:37563941A>G	uc002hrv.4	-	16	4745	c.4533T>C	c.(4531-4533)gaT>gaC	p.D1511D	MED1_uc010wee.2_Silent_p.D1339D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1511	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ctcggtccctatctttgtctt	0.443000										HNSCC(31;0.082)				33			15		0	0	0.002450	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696437	150696437	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:150696437C>T	uc003lty.3	-	9	1523	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.E267K	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	465					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAGCAGCTCGTCCAGGGCC	0.572000														6			38		0	0	0.004289	0	0
AFP	174	broad.mit.edu	37	4	74313228	74313228	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:74313228A>T	uc003hgz.1	+	7	940	c.893A>T	c.(892-894)aAa>aTa	p.K298I	AFP_uc011cbg.1_Missense_Mutation_p.K72I	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	298	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTCAAACAAAATAACAGAA	0.323000									Alpha-Fetoprotein, Hereditary Persistence of					24			17		0	0	0.007413	0	0
POTEF	728378	broad.mit.edu	37	2	130832617	130832617	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:130832617G>A	uc010fmh.2	-	16	2828	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	810	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTAGGGTTCAGGGTGGCCTCG	0.587000														175			58		0	0	0.003610	0	0
NUP160	23279	broad.mit.edu	37	11	47843330	47843330	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:47843330G>A	uc001ngm.3	-	8	1308	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.A408V|Y_RNA_uc021qiv.1_5'Flank	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	408					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATGCCACAGGGCCCAGATATC	0.413000														68			13		0	0	0.003163	0	0
CD80	941	broad.mit.edu	37	3	119256110	119256110	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:119256110C>A	uc003ecq.3	-	3	969	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	CD80_uc010hqt.1_Missense_Mutation_p.D192Y|CD80_uc010hqu.1_Intron	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	192	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTTTCAGGATCTTGGGAAACT	0.418000														45			76		3.82405e-32	4.05167e-32	0.003610	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175707	143175707	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:143175707C>T	uc003wdc.1	+	0	742	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	248					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTGTCCTTTCTGTCCCTGAT	0.512000														116			17		0	0	0.008871	0	0
C17orf98	388381	broad.mit.edu	37	17	36991564	36991564	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:36991564A>G	uc002hqv.2	-	2	343	c.343T>C	c.(343-345)Tac>Cac	p.Y115H	TRNA_Cys_uc021twl.1_5'Flank	NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	Homo sapiens chromosome 17 open reading frame 98 (C17orf98), mRNA.	115										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						TCAGCATTGTAGTGGTCATGC	0.577000														52			36		0	0	0.004289	0	0
RNF207	388591	broad.mit.edu	37	1	6279316	6279316	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:6279316C>T	uc001amg.3	+	17	1928	c.1754C>T	c.(1753-1755)cCg>cTg	p.P585L		NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	585						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGAAGTGTCCCGGAAAAGAGA	0.502000														48			20		0	0	0.001882	0	0
VPS4A	27183	broad.mit.edu	37	16	69354183	69354183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:69354183C>T	uc002eww.3	+	6	888	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA.	254					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GTTCTTGGTCCAGATGCAGGG	0.572000														51			20		0	0	0.001882	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139487	101139487	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:101139487G>A	uc011mrl.2	-	6	1262	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ZMAT1_uc004eim.3_Silent_p.F133F|ZMAT1_uc004ein.3_Silent_p.F133F|ZMAT1_uc011mrm.2_Silent_p.F133F	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	133						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GTTCATCTTGGAAAGAGTCAT	0.398000														41			56		0	0	0.003610	0	0
KRT31	3881	broad.mit.edu	37	17	39551240	39551241	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:39551240_39551241GG>AA	uc002hwn.3	-	5	1009_1010	c.956_957CC>TT	c.(955-957)acc>aTT	p.T319I	KRT31_uc010cxn.3_Missense_Mutation_p.T319I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	319	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTCCACGTTGGTGATCAGGCT	0.614000														37			24		0	0	0.004672	0	0
ANO4	121601	broad.mit.edu	37	12	101480466	101480466	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:101480466G>A	uc010svm.1	+	16	2137	c.1565G>A	c.(1564-1566)gGg>gAg	p.G522E	ANO4_uc001thw.2_Missense_Mutation_p.G487E|ANO4_uc001thx.2_Missense_Mutation_p.G522E|ANO4_uc001thy.2_Missense_Mutation_p.G42E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	522						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCGTGTTCGGGATCGTCATT	0.517000										HNSCC(74;0.22)				172			83		0	0	0.003610	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000														17			10		0	0	0.008291	0	0
SEMA3D	223117	broad.mit.edu	37	7	84647598	84647598	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:84647598G>A	uc003uic.3	-	12	1555	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	SEMA3D_uc010led.3_Silent_p.I505I|SEMA3D_uc003uib.3_Silent_p.I144I	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	505	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTCAAGATGATTGATGAGT	0.284000														42			6		0	0	0.004482	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54117527	54117527	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:54117527G>A	uc001sef.3	-	3	444	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Silent_p.F100F|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Silent_p.F100F|CALCOCO1_uc010soo.1_Silent_p.F93F	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	100	N-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCACATATCGGAACTGGTAGA	0.607000														21			17		0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	31514964	31514964	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:31514964G>A	uc004dda.1	-	56	8732	c.8488C>T	c.(8488-8490)Cgg>Tgg	p.R2830W	DMD_uc004dcq.1_Missense_Mutation_p.R101W|DMD_uc004dcr.1_Missense_Mutation_p.R370W|DMD_uc004dcs.1_Missense_Mutation_p.R370W|DMD_uc004dct.1_Missense_Mutation_p.R370W|DMD_uc004dcu.1_Missense_Mutation_p.R370W|DMD_uc004dcv.1_Missense_Mutation_p.R370W|DMD_uc004dcw.2_Missense_Mutation_p.R1486W|DMD_uc004dcx.2_Missense_Mutation_p.R1489W|DMD_uc004dcz.2_Missense_Mutation_p.R2707W|DMD_uc004dcy.1_Missense_Mutation_p.R2826W|DMD_uc004ddb.1_Missense_Mutation_p.R2822W	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2830					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2825W(1)|p.R2826W(1)|p.R370W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGCCTGCCGGCTTAATTCA	0.498000														15			19		0	0	0.001882	0	0
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	C	C	rs111331725	by1000genomes	TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:29628261T>C	uc010ztl.1	+	2	205	c.173T>C	c.(172-174)tTt>tCt	p.F58S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.F10S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363000														61			5		0	0	0.001984	0	0
XRN2	22803	broad.mit.edu	37	20	21335488	21335488	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:21335488C>T	uc002wsf.1	+	20	2093	c.1998C>T	c.(1996-1998)taC>taT	p.Y666Y	XRN2_uc002wsg.1_Silent_p.Y590Y|XRN2_uc010zsk.1_Silent_p.Y612Y	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	666					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAGAGGTATACCCAGACCTCA	0.408000														30			11		0	0	0.000978	0	0
ACAP1	9744	broad.mit.edu	37	17	7245641	7245642	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:7245641_7245642CC>TT	uc002ggd.2	+	3	485_486	c.279_280CC>TT	c.(277-282)agccat>agTTat	p.H94Y		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	94	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGACAGCCATGCGGTAAG	0.564000														41			21		0	0	0.004672	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540362	133540362	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:133540362G>A	uc002ttp.3	-	13	4396	c.4022C>T	c.(4021-4023)cCc>cTc	p.P1341L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1341							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTGCCCCGAGGGCCTCCCAAC	0.607000														22			8		0	0	0.003080	0	0
GRM1	2911	broad.mit.edu	37	6	146720028	146720028	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:146720028G>T	uc010khw.1	+	7	2323	c.1853G>T	c.(1852-1854)cGg>cTg	p.R618L	GRM1_uc010khv.1_Missense_Mutation_p.R618L|GRM1_uc003qll.2_Missense_Mutation_p.R618L|GRM1_uc011edz.1_Missense_Mutation_p.R618L|GRM1_uc011eea.1_Missense_Mutation_p.R618L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	618					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R618L(3)		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)	GTACTGTACCGGGACACACCA	0.473000														111			44		1.57019e-19	1.64409e-19	0.007835	1	0
HEXDC	284004	broad.mit.edu	37	17	80377712	80377712	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:80377712C>T	uc002kev.4	+	1	453	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	C17orf101_uc002ket.2_5'Flank|C17orf101_uc010dip.2_5'Flank|C17orf101_uc002keu.2_5'Flank|HEXDC_uc002kew.3_Missense_Mutation_p.H13Y	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	13					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAGATTAGTTCATTTAGACCT	0.433000														12			15		0	0	0.006122	0	0
C17orf78	284099	broad.mit.edu	37	17	35743032	35743032	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:35743032G>A	uc002hns.3	+	3	527	c.477G>A	c.(475-477)ggG>ggA	p.G159G	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	159						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TAACTCCTGGGAATAAAGAAG	0.383000														13			5		0	0	0.000602	0	0
FADS6	283985	broad.mit.edu	37	17	72888728	72888728	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:72888728C>T	uc002jmd.1	-	1	291	c.279G>A	c.(277-279)aaG>aaA	p.K93K		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	99					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGTGGCTGCCCTTGACAGTGA	0.592000														10			4		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179392293	179392293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:179392293G>A	uc021vsy.1	-	310	100081	c.99856C>T	c.(99856-99858)Caa>Taa	p.Q33286*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Q26981*|TTN_uc021vta.1_Nonsense_Mutation_p.Q26914*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q26789*|TTN_uc002umq.3_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34213							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGCTTTGGGCAGACATG	0.453000														79			14		0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:55540286C>T	uc003xsd.1	+	3	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1282					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)			CACTTTTTTTCCTAGTGATGG	0.408000														67			82		0	0	0.003610	0	0
GRHL2	79977	broad.mit.edu	37	8	102570691	102570691	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:102570691G>A	uc010mbu.3	+	3	659	c.329G>A	c.(328-330)gGa>gAa	p.G110E	GRHL2_uc011lhi.1_Missense_Mutation_p.G110E	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	110						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGAGTGGAGGAGAAAACCGA	0.463000														64			48		0	0	0.003610	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623403	46623403	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:46623403C>T	uc009zkj.1	-	3	827	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E48K|SLC38A1_uc010slh.2_Missense_Mutation_p.E21K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E48K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	48					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTCTACTTTCACGATCAGAA	0.279000														63			52		0	0	0.003610	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473796	74473796	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:74473796G>A	uc002jrq.2	-	6	1125	c.831C>T	c.(829-831)ttC>ttT	p.F277F	RHBDF2_uc021udh.1_Silent_p.F248F|RHBDF2_uc002jrr.1_Silent_p.F129F|RHBDF2_uc010wtf.1_Silent_p.F248F|RHBDF2_uc002jrs.1_Silent_p.F272F	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	277					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCTCCTCCAGGAAGCTCGGGA	0.632000														42			32		0	0	0.002096	0	0
abParts	0	broad.mit.edu	37	22	22697959	22697959	+	RNA	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr22:22697959C>T	uc021wml.1	+	40		c.4504C>T								Parts of antibodies, mostly variable regions.																		GGATGGCATCCCTGATCGCTT	0.557000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			6		0	0	0.003080	0	0
MTHFD1	4522	broad.mit.edu	37	14	64892780	64892780	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:64892780A>G	uc001xhb.3	+	10	1384	c.997A>G	c.(997-999)Aag>Gag	p.K333E	MTHFD1_uc010aqe.2_Missense_Mutation_p.K369E|MTHFD1_uc010aqf.3_Missense_Mutation_p.K389E	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	333	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)	GCCCATTGGTAAGCTGGCTCG	0.403000														35			24		0	0	0.003330	0	0
TCF23	150921	broad.mit.edu	37	2	27375716	27375716	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:27375716C>T	uc010ylg.2	+	2	683	c.626C>T	c.(625-627)cCa>cTa	p.P209L		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	209					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.P209T(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTCTCACCAGCTCTTGGT	0.537000														91			77		0	0	0.003610	0	0
CEP250	11190	broad.mit.edu	37	20	34091962	34091962	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:34091962G>A	uc021wco.1	+	29	6412	c.5765G>A	c.(5764-5766)aGg>aAg	p.R1922K	CEP250_uc010zve.2_Missense_Mutation_p.R1290K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1922	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTGGAGACCAGGGCCCTGCAG	0.632000														27			10		0	0	0.000978	0	0
PCF11	51585	broad.mit.edu	37	11	82877448	82877448	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:82877448C>T	uc001ozx.4	+	4	1854	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	PCF11_uc010rsu.1_Silent_p.P503P	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	503					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGCGGTCACCCAAACGAAGGC	0.458000														64			4		0	0	0.000602	0	0
TTC9	23508	broad.mit.edu	37	14	71134317	71134317	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:71134317G>A	uc001xmi.2	+	1	786	c.443G>A	c.(442-444)cGa>cAa	p.R148Q		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	148							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AACTATGAACGAGTCAAGGAA	0.522000														70			13		0	0	0.001855	0	0
PSRC1	84722	broad.mit.edu	37	1	109824519	109824520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:109824519_109824520CC>TT	uc001dxj.3	-	3	386_387	c.240_241GG>AA	c.(238-243)gaggcc>gaAAcc	p.A81T	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.A81T|PSRC1_uc001dxd.3_Missense_Mutation_p.A81T|PSRC1_uc001dxf.3_Missense_Mutation_p.A81T	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	81					cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGCCGGTTGGCCTCATCGAGGA	0.683000														260			56		0	0	0.004672	0	0
ADAM18	8749	broad.mit.edu	37	8	39494794	39494794	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:39494794G>A	uc003xni.3	+	7	655	c.600G>A	c.(598-600)atG>atA	p.M200I	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Intron	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	200	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATGATTATATGGGATCTGAAA	0.274000														24			15		0	0	0.003163	0	0
LZTFL1	54585	broad.mit.edu	37	3	45872564	45872564	+	Splice_Site	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:45872564C>G	uc003cox.1	-	6	660	c.522_splice	c.e6+1	p.Q174_splice	LZTFL1_uc003coy.1_Splice_Site_p.Q157_splice|LZTFL1_uc011bak.1_Splice_Site	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	174										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTCTCAGTTACCTGTATTTCA	0.299000														19			12		0	0	0.001855	0	0
SCN8A	6334	broad.mit.edu	37	12	52159697	52159697	+	Silent	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:52159697C>G	uc001ryw.3	+	15	2965	c.2787C>G	c.(2785-2787)gtC>gtG	p.V929V	SCN8A_uc010snl.2_Silent_p.V929V|SCN8A_uc001ryy.2_Silent_p.V794V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	929					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCTCATTGTCTTTCGAGTGT	0.488000														188			99		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	42080415	42080415	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr21:42080415C>T	uc002yyq.1	-	1	778	c.326G>A	c.(325-327)gGg>gAg	p.G109E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	109	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTAATTTTCCCTGAAGGATT	0.448000														62			18		0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100686896	100686896	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:100686896C>T	uc003uxp.1	+	2	12252	c.12199C>T	c.(12199-12201)Cct>Tct	p.P4067S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4067						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTACATTTCCTCCTGCTCA	0.547000														47			114		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713650	70713650	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:70713650T>G	uc010ttg.2	-	0	869	c.218A>C	c.(217-219)gAt>gCt	p.D73A						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATACATGGAATCCACTATGTT	0.368000														44			24		0	0	0.003954	0	0
CDH16	1014	broad.mit.edu	37	16	66949202	66949202	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:66949202C>T	uc002eql.3	-	5	698	c.504G>A	c.(502-504)ctG>ctA	p.L168L	CDH16_uc010cdy.3_Silent_p.L168L|CDH16_uc021tjx.1_Silent_p.L168L|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGCCTGGCTCAGGATGTGGA	0.647000														48			15		0	0	0.003163	0	0
MTUS1	57509	broad.mit.edu	37	8	17611259	17611259	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:17611259C>A	uc003wxv.3	-	1	2532	c.2058G>T	c.(2056-2058)atG>atT	p.M686I	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.M686I|MTUS1_uc010lsz.3_Missense_Mutation_p.M686I	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	686						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGTCTCATTCATAATCTCTT	0.343000														26			10		1.76689e-08	1.82853e-08	0.006214	1	0
PTPRB	5787	broad.mit.edu	37	12	70949899	70949900	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:70949899_70949900GG>AA	uc001swb.4	-	16	4119_4120	c.4089_4090CC>TT	c.(4087-4092)tgccgg>tgTTgg	p.R1364W	PTPRB_uc010sto.2_Missense_Mutation_p.R1274W|PTPRB_uc010stp.2_Missense_Mutation_p.R1274W|PTPRB_uc001swc.4_Missense_Mutation_p.R1582W|PTPRB_uc001swa.4_Missense_Mutation_p.R1494W	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1364	Fibronectin type-III 16.				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)			TTCTGAGGCCGGCAATGCAGGT	0.455000														20			17		0	0	0.004672	0	0
KRT35	3886	broad.mit.edu	37	17	39635641	39635641	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:39635641G>A	uc002hws.3	-	2	712	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	223	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTCCTTCAGGGACTCCACCT	0.607000														43			26		0	0	0.007291	0	0
PRR11	55771	broad.mit.edu	37	17	57270947	57270947	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:57270947C>T	uc002ixf.2	+	4	809	c.497C>T	c.(496-498)cCt>cTt	p.P166L	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	166										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTGATCACCCCTGGAGACTCC	0.542000														31			23		0	0	0.002299	0	0
OR1D4	653166	broad.mit.edu	37	17	3144090	3144090	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:3144090G>A	uc002fvf.3	+	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		CACGGTGCTGGGAAATGTGCT	0.527000														54			23		0	0	0.004289	0	0
PCDH15	65217	broad.mit.edu	37	10	55570395	55570395	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:55570395C>T	uc021pqw.1	-	34	4828	c.4433G>A	c.(4432-4434)cGt>cAt	p.R1478H	PCDH15_uc010qhq.2_Missense_Mutation_p.R1471H|PCDH15_uc010qhr.2_Missense_Mutation_p.R1466H|PCDH15_uc021pqv.1_Missense_Mutation_p.V1492I|PCDH15_uc010qht.2_Missense_Mutation_p.R1473H|PCDH15_uc021pqx.1_Missense_Mutation_p.V1490I	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAACAATCGACGGCGACTCCC	0.393000										HNSCC(58;0.16)				30			43		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141719032	141719032	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:141719032C>T	uc003vwy.3	+	3	415	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	121	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGCTGGAATCCCCAGGGAGC	0.453000														158			22		0	0	0.001882	0	0
OR1D5	8386	broad.mit.edu	37	17	2966538	2966538	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:2966538G>A	uc021tns.1	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(3)		kidney(1)|lung(10)	11						GCCACATAGCGATCATACGCC	0.567000														32			19		0	0	0.001882	0	0
COL4A5	1287	broad.mit.edu	37	X	107923941	107923941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:107923941G>A	uc022ccg.1	+	44	4177	c.3975G>A	c.(3973-3975)atG>atA	p.M1325I	COL4A5_uc004enz.1_Missense_Mutation_p.M1319I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1319	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCAATGGAATGAAAGGAGATC	0.443000									Alport syndrome with Diffuse Leiomyomatosis					19			17		0	0	0.007413	0	0
AP3B2	8120	broad.mit.edu	37	15	83346062	83346062	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr15:83346062G>A	uc010uoi.2	-	12	1629	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	AP3B2_uc010uoh.2_Silent_p.I484I|AP3B2_uc010uoj.2_Silent_p.I452I|AP3B2_uc010uog.2_Silent_p.I120I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	484					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity	p.I484T(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGTGTTTGATGATCTCTCCAT	0.453000														21			3		0	0	0.004672	0	0
INADL	10207	broad.mit.edu	37	1	62350026	62350026	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:62350026C>T	uc001dab.3	+	21	3191	c.3077C>T	c.(3076-3078)tCc>tTc	p.S1026F	INADL_uc009waf.1_Missense_Mutation_p.S1026F|INADL_uc001daa.2_Missense_Mutation_p.S1026F|INADL_uc001dad.3_Missense_Mutation_p.S723F|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1026					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						CGAGTTATTTCCAAGGCCTCA	0.408000														77			62		0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17727845	17727845	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:17727845T>G	uc001bak.1	+	16	1996	c.1996T>G	c.(1996-1998)Tgt>Ggt	p.C666G		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	658					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGACTTTGACTGTTACCTGAC	0.542000														40			12		0	0	0.000978	0	0
ANK1	286	broad.mit.edu	37	8	41577290	41577290	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:41577290G>C	uc003xok.3	-	9	1080	c.996C>G	c.(994-996)gaC>gaG	p.D332E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D332E|ANK1_uc003xoj.3_Missense_Mutation_p.D332E|ANK1_uc003xol.3_Missense_Mutation_p.D332E|ANK1_uc003xom.3_Missense_Mutation_p.D365E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	332	89 kDa domain.		D -> H (in a breast cancer sample; somatic mutation).		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.D332H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGTGATGTCGTCTATCTCTG	0.587000														119			71		0	0	0.003610	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														83			4		0	0	0.009096	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065237	62065237	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:62065237G>A	uc002yey.1	-	7	1220	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	KCNQ2_uc002yez.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfa.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfb.1_Missense_Mutation_p.A348V|KCNQ2_uc011aax.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfc.1_Missense_Mutation_p.A348V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	348					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAGGTTGGTGGCGTAGAATCT	0.692000														39			34		0	0	0.003271	0	0
SECTM1	6398	broad.mit.edu	37	17	80282647	80282647	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:80282647C>T	uc002keo.3	-	2	612	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	72					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTCTCCTGCCCGTGGGCACGC	0.602000														10			9		0	0	0.006214	0	0
PTK7	5754	broad.mit.edu	37	6	43098071	43098071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:43098071C>T	uc011dve.1	+	3	640	c.598C>T	c.(598-600)Cct>Tct	p.P200S	PTK7_uc003oub.1_Missense_Mutation_p.P192S|PTK7_uc003ouc.1_Missense_Mutation_p.P192S|PTK7_uc003oud.1_Missense_Mutation_p.P192S|PTK7_uc003oue.1_Missense_Mutation_p.P192S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.P192S	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	192	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCAGCTGGTCCTGAGCATAG	0.592000														16			28		0	0	0.006320	0	0
CHGB	1114	broad.mit.edu	37	20	5897512	5897512	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:5897512C>T	uc002wmg.3	+	2	443	c.137C>T	c.(136-138)tCg>tTg	p.S46L	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	46						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AATGCCTTGTCGAAGTCCAGC	0.557000														39			40		0	0	0.009718	0	0
FSTL5	56884	broad.mit.edu	37	4	162841804	162841804	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:162841804C>T	uc003iqh.3	-	4	597	c.161_splice	c.e4-1	p.G54_splice	FSTL5_uc003iqi.3_Splice_Site_p.G53_splice|FSTL5_uc010iqv.3_Splice_Site_p.G53_splice	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	54						extracellular region	calcium ion binding	p.G54V(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATCATAAATCCTGAAGAATT	0.343000														22			12		0	0	0.001855	0	0
CUX2	23316	broad.mit.edu	37	12	111785777	111785777	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:111785777G>A	uc001tsa.2	+	21	4263	c.4109G>A	c.(4108-4110)gGg>gAg	p.G1370E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1370	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTGAGGCCGGGGAGCGACTT	0.607000														51			65		0	0	0.003610	0	0
ACSL5	51703	broad.mit.edu	37	10	114164518	114164518	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:114164518C>T	uc001kzu.3	+	4	666	c.554C>T	c.(553-555)tCa>tTa	p.S185L	ACSL5_uc001kzs.3_Missense_Mutation_p.S129L|ACSL5_uc001kzt.3_Missense_Mutation_p.S129L|ACSL5_uc009xxz.3_Missense_Mutation_p.S129L	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	129					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGTTATAAATCATCACCAGAC	0.413000														40			80		0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47880163	47880163	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:47880163C>T	uc003tny.2	-	34	5482	c.5448G>A	c.(5446-5448)gtG>gtA	p.V1816V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1816	PLAT.				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						AAACAATGTACACCTCAAAAC	0.507000														57			20		0	0	0.008871	0	0
ZNF334	55713	broad.mit.edu	37	20	45130734	45130734	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:45130734A>G	uc002xsa.3	-	3	1775	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	ZNF334_uc002xsb.3_Missense_Mutation_p.F377S|ZNF334_uc002xsd.3_Missense_Mutation_p.F377S|ZNF334_uc002xsc.3_Missense_Mutation_p.F415S|ZNF334_uc010ghl.3_Missense_Mutation_p.F414S			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATTGACAAAAGAAGGTTTT	0.428000														68			36		0	0	0.003271	0	0
PLB1	151056	broad.mit.edu	37	2	28804976	28804976	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:28804976G>A	uc002rmb.2	+	23	1652	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Silent_p.K224K|PLB1_uc002rmd.1_Silent_p.K46K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	536	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACATTGGAAAGGCCCTGGACA	0.522000														47			36		0	0	0.006230	0	0
UBN2	254048	broad.mit.edu	37	7	138968702	138968702	+	Silent	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:138968702T>C	uc011kqr.2	+	14	3051	c.3051T>C	c.(3049-3051)gcT>gcC	p.A1017A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1017	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGCCAAGGCTATGGTGTCAC	0.527000														107			15		0	0	0.004007	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424126	14424126	+	RNA	SNP	C	G	G	rs143763279	by1000genomes	TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr21:14424126C>G	uc002yiy.3	+	4		c.2941C>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GAAGGAACATCTGAAGGAACA	0.453000														32			3		0	0	0.001984	0	0
PDZD2	23037	broad.mit.edu	37	5	31983492	31983492	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:31983492C>T	uc003jhl.3	+	2	1096	c.708C>T	c.(706-708)ggC>ggT	p.G236G	PDZD2_uc003jhm.3_Silent_p.G236G|PDZD2_uc011cnx.1_Silent_p.G62G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	236					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AATCCAAGGGCAGCGCTGGCT	0.572000														58			23		0	0	0.003330	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168907	55168907	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:55168907C>T	uc001xbb.3	+	1	629	c.321C>T	c.(319-321)atC>atT	p.I107I	SAMD4A_uc001xba.3_Silent_p.I108I|SAMD4A_uc001xbc.3_Silent_p.I108I|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_Silent_p.I7I	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	108					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCCCAAAATCCTGGCTCACT	0.473000														38			21		0	0	0.002299	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274316	103274316	+	Missense_Mutation	SNP	G	A	A	rs61743555	byFrequency	TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:103274316G>A	uc002tca.3	+	1	725	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	195						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTGCCAGATCGAAGCATTCGG	0.478000														158			149		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183696119	183696119	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:183696119T>C	uc003ivd.1	+	22	5192	c.5117T>C	c.(5116-5118)aTt>aCt	p.I1706T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1706					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)		TCCCTCAGAATTATCTACGCC	0.443000														15			10		0	0	0.008291	0	0
ETS2	2114	broad.mit.edu	37	21	40191596	40191596	+	Silent	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr21:40191596A>G	uc002yxf.3	+	8	1441	c.1401A>G	c.(1399-1401)ccA>ccG	p.P467P	ETS2_uc002yxg.3_Silent_p.P327P	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	327					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)				TCAATAAGCCAACCATGTCTT	0.532000														16			9		0	0	0.006214	0	0
MMP15	4324	broad.mit.edu	37	16	58073843	58073843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:58073843C>T	uc002ena.3	+	3	1478	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	169					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R169H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGGGCCTTCCGCGTGTGGGA	0.637000														18			31		0	0	0.002836	0	0
CLDN23	137075	broad.mit.edu	37	8	8560416	8560416	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:8560416C>T	uc003wsi.3	+	0	751	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	Homo sapiens claudin 23 (CLDN23), mRNA.	170					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CAGCTGCCTCCTGCTGCTGGG	0.741000														5			9		0	0	0.006214	0	0
EPHB6	2051	broad.mit.edu	37	7	142568056	142568056	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:142568056G>A	uc011kst.2	+	17	3484	c.2697G>A	c.(2695-2697)caG>caA	p.Q899Q	EPHB6_uc011ksu.2_Silent_p.Q899Q|EPHB6_uc003wbs.3_Silent_p.Q607Q|EPHB6_uc003wbt.3_Silent_p.Q373Q|EPHB6_uc003wbu.3_Silent_p.Q607Q|EPHB6_uc003wbv.3_Silent_p.Q283Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	899	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACACTTGGCAGAAGGACCGTG	0.592000														268			52		0	0	0.003610	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208222	70208222	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:70208222C>T	uc001opo.3	+	19	2819	c.2604C>T	c.(2602-2604)gcC>gcT	p.A868A	PPFIA1_uc001opn.2_Silent_p.A868A|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	868					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGAGGAAGCCCGGAGACAAG	0.483000														64			15		0	0	0.004007	0	0
NUP188	23511	broad.mit.edu	37	9	131765638	131765638	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr9:131765638G>C	uc004bws.1	+	37	4361	c.4339G>C	c.(4339-4341)Gag>Cag	p.E1447Q	NUP188_uc004bwu.3_Missense_Mutation_p.E790Q	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1447					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGCCTGCCTGGAGGAGGCGGA	0.572000														84			13		0	0	0.001855	0	0
F8	2157	broad.mit.edu	37	X	154176015	154176015	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:154176015G>A	uc004fmt.3	-	12	2242	c.2071C>T	c.(2071-2073)Cca>Tca	p.P691S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	691	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTGAGAATGGGAATAGGGTG	0.403000														23			45		0	0	0.002522	0	0
OR11H4	390442	broad.mit.edu	37	14	20711325	20711325	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr14:20711325G>A	uc010tld.2	+	0	375	c.375G>A	c.(373-375)ctG>ctA	p.L125L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GTCTCTTTCTGGCAGTAATGG	0.463000														49			34		0	0	0.002096	0	0
SLC26A3	1811	broad.mit.edu	37	7	107427286	107427286	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:107427286C>T	uc003ver.2	-	7	1168	c.957G>A	c.(955-957)ggG>ggA	p.G319G	SLC26A3_uc003ves.2_Silent_p.G284G	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	319					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G319E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATTCATGTCCCCAACCACAG	0.468000														50			90		0	0	0.003610	0	0
CCDC66	285331	broad.mit.edu	37	3	56627732	56627732	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:56627732A>C	uc003dhz.3	+	8	1369	c.1282A>C	c.(1282-1284)Att>Ctt	p.I428L	CCDC66_uc003dhy.3_Missense_Mutation_p.I64L|CCDC66_uc003dhu.3_Missense_Mutation_p.I394L|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	428										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCAAAACCTATTAAGGATGT	0.413000														21			55		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152521954	152521954	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:152521954G>A	uc021vrb.1	-	39	5160	c.5131C>T	c.(5131-5133)Ctt>Ttt	p.L1711F	NEB_uc002txu.3_Missense_Mutation_p.L1711F|NEB_uc021vrc.1_Missense_Mutation_p.L1711F|NEB_uc010fnx.3_Missense_Mutation_p.L1711F|NEB_uc021vrd.1_Missense_Mutation_p.L1711F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1711					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCACTAAGAATCTCTCCT	0.473000														24			10		0	0	0.008291	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468240	35468240	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr21:35468240T>C	uc021wir.1	+	0	743	c.743T>C	c.(742-744)cTg>cCg	p.L248P	SLC5A3_uc002yto.3_Missense_Mutation_p.L248P|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	248						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGAAGCCCTGAAAATGCTG	0.463000														284			273		0	0	0.003610	0	0
DHCR7	1717	broad.mit.edu	37	11	71152330	71152330	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:71152330G>A	uc001oqk.3	-	5	819	c.569C>T	c.(568-570)gCc>gTc	p.A190V	DHCR7_uc001oql.3_Missense_Mutation_p.A190V	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	190					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)	GGTGGAGACGGCATAGCCAAG	0.557000									Smith-Lemli-Opitz syndrome					64			18		0	0	0.001882	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174613	150174613	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:150174613C>T	uc003whj.3	+	4	2073	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	581						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.K580N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCATGAAGAACTCAGATAACA	0.488000														143			22		0	0	0.001882	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14796355	14796356	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr18:14796355_14796356GG>AA	uc010dlo.2	+	17	2048_2049	c.1868_1869GG>AA	c.(1867-1869)agg>aAA	p.R623K	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R623K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	623										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCTGTGGAAGGAAAGTTTCTC	0.272000														3			4		0	0	0.004672	0	0
PTPRG	5793	broad.mit.edu	37	3	62253112	62253112	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:62253112C>T	uc003dlb.3	+	17	3403	c.2684C>T	c.(2683-2685)cCt>cTt	p.P895L	PTPRG_uc003dlc.3_Missense_Mutation_p.P866L|PTPRG_uc011bfi.2_Missense_Mutation_p.P141L|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	895	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAGTTAAGACCTTTACCAGGA	0.323000														132			12		0	0	0.002450	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290103	55290103	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:55290103G>A	uc010erz.1	+	4	742	c.704G>A	c.(703-705)aGc>aAc	p.S235N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S235N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	235					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACTGAACCAAGCTCCAAAACC	0.512000														44			72		0	0	0.003610	0	0
NPC1	4864	broad.mit.edu	37	18	21141326	21141326	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr18:21141326G>A	uc002kum.4	-	4	903	c.629C>T	c.(628-630)tCa>tTa	p.S210L	NPC1_uc010xaz.2_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.S55L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	210					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATACCTACCTGAAAACACAGG	0.458000														91			55		0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92731696	92731696	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:92731696G>A	uc003umf.3	-	2	3985	c.3715C>T	c.(3715-3717)Cca>Tca	p.P1239S	SAMD9_uc003umg.3_Missense_Mutation_p.P1239S|SAMD9_uc022ahg.1_Missense_Mutation_p.P1239S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1239						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGATCCCCTGGAATATCACTA	0.274000														119			22		0	0	0.002780	0	0
GRID1	2894	broad.mit.edu	37	10	87487638	87487638	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:87487638C>T	uc001kdl.1	-	9	1608	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.G74R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	503						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)	CCGATCATCCCGTTCCAGGAG	0.537000										Multiple Myeloma(13;0.14)				14			33		0	0	0.002836	0	0
ODZ3	55714	broad.mit.edu	37	4	183713931	183713931	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:183713931G>A	uc003ivd.1	+	24	6181	c.6106G>A	c.(6106-6108)Gaa>Aaa	p.E2036K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2036					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)		TGTGATCAATGAAACGCCACT	0.393000														110			52		0	0	0.003610	0	0
ATRN	8455	broad.mit.edu	37	20	3540071	3540072	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:3540071_3540072CT>TC	uc002wim.2	+	6	1234_1235	c.1144_1145CT>TC	c.(1144-1146)cta>TCa	p.L382S	ATRN_uc002wil.2_Missense_Mutation_p.L382S|ATRN_uc021vzz.1_Missense_Mutation_p.L266S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	382					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGGCTTCCACTAAACCGTTCT	0.366000														52			26		0	0	0.004672	0	0
AL117485	0	broad.mit.edu	37	22	18846164	18846164	+	RNA	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr22:18846164A>G	uc002zoe.3	+	4		c.2526A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CTGCGGGAGGAGGGAATGTTC	0.612000														43			4		0	0	0.000602	0	0
OR4C46	119749	broad.mit.edu	37	11	51516171	51516171	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:51516171G>A	uc010ric.2	+	0	890	c.890G>A	c.(889-891)aGg>aAg	p.R297K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATGCCATCAGGAAATTGTGT	0.348000														23			7		0	0	0.003080	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703818	33703818	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:33703818G>A	uc002num.2	-	2	594	c.447C>T	c.(445-447)ccC>ccT	p.P149P	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Silent_p.P122P	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	149					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGGGGAACACGGGCTGCAGCA	0.612000														11			44		0	0	0.008740	0	0
MYH8	4626	broad.mit.edu	37	17	10304076	10304076	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:10304076C>T	uc002gmm.2	-	26	3461	c.3366G>A	c.(3364-3366)ggG>ggA	p.G1122G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1122					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGATTTCTTCCCCCAGCTCCT	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					32			20		0	0	0.008871	0	0
LINGO2	158038	broad.mit.edu	37	9	27950069	27950069	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr9:27950069G>A	uc003zqv.1	-	6	1251	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	LINGO2_uc010mjf.1_Missense_Mutation_p.R201C|LINGO2_uc003zqu.1_Missense_Mutation_p.R201C|LINGO2_uc022bfc.1_Missense_Mutation_p.R201C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	201						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATGAGGCTGCGGAGGTGGGAG	0.468000														9			31		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179402438	179402438	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:179402438C>T	uc021vsy.1	-	303	92017	c.91792G>A	c.(91792-91794)Gaa>Aaa	p.E30598K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E24293K|TTN_uc021vta.1_Missense_Mutation_p.E24226K|TTN_uc021vtb.1_Missense_Mutation_p.E24101K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31525	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCATCTTCCTGTTCCTCT	0.438000														44			15		0	0	0.002450	0	0
C7	730	broad.mit.edu	37	5	40945325	40945325	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:40945325A>C	uc003jmh.3	+	6	707	c.593A>C	c.(592-594)tAt>tCt	p.Y198S	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	198	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GATTTTAATTATGAATTTTAC	0.303000														7			7		0	0	0.001984	0	0
MDGA1	266727	broad.mit.edu	37	6	37606313	37606313	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:37606313C>T	uc003onu.1	-	15	3846	c.2667_splice	c.e15+1	p.Q889_splice	MDGA1_uc003onv.1_Splice_Site_p.Q158_splice	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	889	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACGGACTCACCTGGAAGGGCC	0.607000														48			12		0	0	0.003163	0	0
BICD2	23299	broad.mit.edu	37	9	95480126	95480126	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr9:95480126C>T	uc004asp.1	-	5	2268	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K	BICD2_uc004aso.1_Silent_p.K737K	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	737	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCGTCCTCCTTGAGGGCCT	0.592000														12			41		0	0	0.006999	0	0
OR51A4	401666	broad.mit.edu	37	11	4968129	4968129	+	Silent	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:4968129A>G	uc010qys.2	-	0	202	c.202T>C	c.(202-204)Ttg>Ctg	p.L68L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATAGCCAACATGGAAAGA	0.418000														40			43		0	0	0.009718	0	0
PIGV	55650	broad.mit.edu	37	1	27121193	27121193	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:27121193C>T	uc001bmz.3	+	2	1031	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PIGV_uc001bna.3_Missense_Mutation_p.S223F|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	223					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCTTTTTCTCTTCTCTAACG	0.507000														43			48		0	0	0.002852	0	0
OR9A2	135924	broad.mit.edu	37	7	142724187	142724187	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:142724187G>A	uc003wcc.1	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTAGAAGGTGGAATTCAGTGG	0.428000														30			46		0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239663	1239663	+	Silent	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:1239663T>C	uc003jby.2	+	5	954	c.831T>C	c.(829-831)agT>agC	p.S277S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	277					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTTTTGCAAGTTACAACTCGC	0.582000														51			24		0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100684853	100684854	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:100684853_100684854GG>AA	uc003uxp.1	+	2	10209_10210	c.10156_10157GG>AA	c.(10156-10158)ggt>AAt	p.G3386N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3386	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTACCAGCATA	0.510000														477			47		0	0	0.004672	0	0
MACROD2	140733	broad.mit.edu	37	20	15967391	15967391	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:15967391G>A	uc002wou.3	+	13	1269	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	MACROD2_uc002wot.3_Silent_p.T335T|MACROD2_uc002woz.3_Silent_p.T100T|MACROD2_uc002wpb.3_Silent_p.T100T|MACROD2_uc002wpd.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	335	Glu-rich.		T -> M (in dbSNP:rs41275442).							breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATGATTCAACGAAGAATGAAA	0.338000														13			12		0	0	0.001368	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457223	110457223	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:110457223G>A	uc003yne.3	+	37	5229	c.5125G>A	c.(5125-5127)Gcc>Acc	p.A1709T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1709	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAATTATACGGCCATTGAATG	0.458000										HNSCC(38;0.096)				126			77		0	0	0.003610	0	0
PTBP3	9991	broad.mit.edu	37	9	114989800	114989800	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr9:114989800G>A	uc004bfv.3	-	11	1540	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Silent_p.L450L|PTBP3_uc004bfw.3_Silent_p.L447L|PTBP3_uc011lwu.2_Silent_p.L419L|PTBP3_uc004bfz.3_Silent_p.L419L|PTBP3_uc004bfy.3_Silent_p.L352L	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	447					anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										TCCTTAGTCAGACCTTGGTCT	0.453000														20			50		0	0	0.003610	0	0
RNF152	220441	broad.mit.edu	37	18	59483490	59483490	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr18:59483490G>A	uc002lih.1	-	1	619	c.207C>T	c.(205-207)ctC>ctT	p.L69L	RNF152_uc021ula.1_Silent_p.L69L	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	69					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGTCGTCCGGGAGCTGCGACA	0.627000														20			12		0	0	0.000978	0	0
DIDO1	11083	broad.mit.edu	37	20	61542877	61542877	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:61542877G>A	uc002ydr.2	-	2	400	c.88C>T	c.(88-90)Cga>Tga	p.R30*	DIDO1_uc002yds.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydv.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydw.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydx.2_Nonsense_Mutation_p.R30*|DIDO1_uc011aao.1_Nonsense_Mutation_p.R30*	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	30					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTCCTTCGAAAACCCCAT	0.617000														7			11		0	0	0.001368	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:112608394T>C	uc002thi.3	-	13	1856	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(10)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000														96			4		0	0	0.009096	0	0
GPR85	54329	broad.mit.edu	37	7	112724154	112724154	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:112724154A>T	uc010ljv.2	-	1	1140	c.623T>A	c.(622-624)tTc>tAc	p.F208Y	GPR85_uc003vgp.1_Missense_Mutation_p.F208Y|GPR85_uc003vgq.2_Missense_Mutation_p.F208Y|GPR85_uc010ljw.1_Missense_Mutation_p.F208Y|GPR85_uc022akd.1_Missense_Mutation_p.F208Y	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCGTGGACGAAAAATATCAG	0.502000														77			16		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:179398792C>T	uc021vsy.1	-	306	95071	c.94846G>A	c.(94846-94848)Gaa>Aaa	p.E31616K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25311K|TTN_uc021vta.1_Missense_Mutation_p.E25244K|TTN_uc021vtb.1_Missense_Mutation_p.E25119K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32543							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403000														72			46		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100115224	100115224	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:100115224C>T	uc003yiv.3	+	4	567	c.456C>T	c.(454-456)aaC>aaT	p.N152N	VPS13B_uc003yiw.3_Silent_p.N152N|VPS13B_uc003yit.3_Silent_p.N152N|VPS13B_uc003yiu.1_Silent_p.N152N|VPS13B_uc003yis.3_Silent_p.N152N|VPS13B_uc011lgy.2_Silent_p.N28N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	152					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAATGTAAACATTGTGATAA	0.289000														70			11		0	0	0.001368	0	0
NCOR2	9612	broad.mit.edu	37	12	124870393	124870393	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:124870393C>T	uc021rga.1	-	16	2034	c.1917G>A	c.(1915-1917)cgG>cgA	p.R639R	NCOR2_uc021rgb.1_Silent_p.R639R|NCOR2_uc010tbb.2_Silent_p.R639R|NCOR2_uc010tbc.2_Silent_p.R638R|NCOR2_uc021rgc.1_Silent_p.R638R|NCOR2_uc010tba.2_Silent_p.R639R|NCOR2_uc001ugj.1_Silent_p.R639R	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	639	SANT 2.				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)		AGCCCACCATCCGGGCGATGG	0.592000														68			28		0	0	0.006320	0	0
IRF2	3660	broad.mit.edu	37	4	185329312	185329312	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:185329312C>T	uc003iwf.4	-	6	729	c.529_splice	c.e6+1	p.V177_splice		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	177					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AACAGTTTACCTATGATGTTC	0.403000														29			27		0	0	0.006320	0	0
COMMD4	54939	broad.mit.edu	37	15	75632106	75632106	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr15:75632106C>T	uc002azy.3	+	6	503	c.446C>T	c.(445-447)tCc>tTc	p.S149F	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Intron|COMMD4_uc002baa.3_Intron|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	149	COMM.					cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CTGCTGCAATCCGTGGAAGAG	0.627000														24			19		0	0	0.008871	0	0
SFXN1	94081	broad.mit.edu	37	5	174937146	174937146	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:174937146A>G	uc003mda.2	+	3	508	c.370A>G	c.(370-372)Aac>Gac	p.N124D	SFXN1_uc003mdb.1_Missense_Mutation_p.N63D	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	124					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGTGGATTAACCAGTCCTT	0.532000														6			10		0	0	0.000978	0	0
GDF2	2658	broad.mit.edu	37	10	48414162	48414162	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:48414162C>T	uc001jfa.1	-	1	866	c.706G>A	c.(706-708)Ggc>Agc	p.G236S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	236					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGTCGCAGCCCTTCCTGTGG	0.577000														16			21		0	0	0.010504	0	0
CECR2	27443	broad.mit.edu	37	22	18028750	18028750	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr22:18028750C>T	uc010gqw.1	+	15	3701	c.3701C>T	c.(3700-3702)tCt>tTt	p.S1234F	CECR2_uc010gqv.1_Missense_Mutation_p.S1094F|CECR2_uc002zml.2_Missense_Mutation_p.S1095F|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1278					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCTTAACTTCTCCAACCCGT	0.547000														93			126		0	0	0.003610	0	0
CNGB3	54714	broad.mit.edu	37	8	87683294	87683294	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:87683294A>T	uc003ydx.3	-	3	419	c.371T>A	c.(370-372)aTa>aAa	p.I124K	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	124					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATACTCATTTATAACAGGAGC	0.418000														204			95		0	0	0.003610	0	0
TRPM7	54822	broad.mit.edu	37	15	50931720	50931720	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr15:50931720G>A	uc001zyt.4	-	5	843	c.561C>T	c.(559-561)gcC>gcT	p.A187A	TRPM7_uc010bew.2_Silent_p.A187A	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	187					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.A187T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTCTTTGAGGGCATCTCCAA	0.388000														29			14		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38980260	38980260	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:38980260C>T	uc021yzh.1	+	90	13670	c.13561C>T	c.(13561-13563)Cgt>Tgt	p.R4521C	DNAH8_uc003ooe.2_Missense_Mutation_p.R4304C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTATGATGCTCGTATACCTCA	0.408000														58			16		0	0	0.004007	0	0
NGEF	25791	broad.mit.edu	37	2	233785073	233785073	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:233785073T>C	uc002vts.2	-	4	997	c.749A>G	c.(748-750)aAc>aGc	p.N250S	NGEF_uc010fyg.1_Missense_Mutation_p.N158S|NGEF_uc002vtt.2_Missense_Mutation_p.N158S	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	250	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTGCCAGAGGTTGAACCTTGA	0.617000														85			41		0	0	0.002522	0	0
LETMD1	25875	broad.mit.edu	37	12	51447632	51447632	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:51447632C>T	uc009zlw.3	+	3	559	c.501C>T	c.(499-501)gtC>gtT	p.V167V	LETMD1_uc010smz.2_Silent_p.V104V|LETMD1_uc010sna.2_Intron|LETMD1_uc001rxm.3_Silent_p.V154V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Intron|LETMD1_uc001rxr.3_Intron|LETMD1_uc001rxl.3_Silent_p.V98V|LETMD1_uc001rxt.3_Intron	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	154	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACTACCTGGTCTTCTTGCTAA	0.368000														123			41		0	0	0.003610	0	0
NPAT	4863	broad.mit.edu	37	11	108059962	108059962	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:108059962G>A	uc001pjz.4	-	5	529	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F	NPAT_uc001pka.3_5'UTR	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	143	Interaction with MIZF.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTCCTGAAAGGTAAGGTAAA	0.468000														49			52		0	0	0.003610	0	0
MUC5B	727897	broad.mit.edu	37	11	1271266	1271266	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:1271266C>T	uc001lta.3	+	30	13215	c.13156C>T	c.(13156-13158)Ccg>Tcg	p.P4386S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4386	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCCGGGGACGAC	0.672000														64			21		0	0	0.001882	0	0
ZNF682	91120	broad.mit.edu	37	19	20135111	20135111	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:20135111C>T	uc002noq.3	-	1	201	c.78G>A	c.(76-78)caG>caA	p.Q26Q	ZNF682_uc002noo.3_5'UTR|ZNF682_uc002nop.3_5'UTR|ZNF682_uc010eck.3_Intron	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATACAAACTCTGCTGAGCAG	0.388000														8			32		0	0	0.002445	0	0
MUC3A	4584	broad.mit.edu	37	7	100608884	100608884	+	Missense_Mutation	SNP	G	A	A	rs73163797	by1000genomes	TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:100608884G>A	uc003uxl.1	+	6	2763	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	AK096803_uc003uxm.1_Non-coding_Transcript|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.A755T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGCGGTCCCGCGTGTCGGTA	0.667000														26			10		0	0	0.004990	0	0
OR6K3	391114	broad.mit.edu	37	1	158687446	158687446	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:158687446G>A	uc021pbn.1	-	0	460	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGCAGGATAAGGAAACCGAAG	0.512000														17			55		0	0	0.003610	0	0
NXF3	56000	broad.mit.edu	37	X	102338427	102338427	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:102338427G>A	uc004eju.3	-	4	510	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.H147Y|NXF3_uc011mrx.1_Missense_Mutation_p.H58Y	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	147	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTCATAGTGAAACTATAGG	0.468000														18			25		0	0	0.002780	0	0
HDAC4	9759	broad.mit.edu	37	2	240033331	240033331	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:240033331G>A	uc002vyk.4	-	13	2646	c.1854C>T	c.(1852-1854)ccC>ccT	p.P618P	HDAC4_uc010fyz.1_Silent_p.P613P|HDAC4_uc010zoa.1_Silent_p.P618P|HDAC4_uc010fza.2_Silent_p.P623P|HDAC4_uc010fyy.3_Silent_p.P575P|HDAC4_uc010znz.1_Silent_p.P501P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	618					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGAAGGACACGGGGATGCCGG	0.692000														7			10		0	0	0.000978	0	0
CHD1	1105	broad.mit.edu	37	5	98223809	98223809	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:98223809G>A	uc003knf.3	-	15	2627	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C	U6_uc021ybv.1_5'Flank	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	827	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGGAATTGACGATATTTCAAA	0.289000														27			9		0	0	0.000978	0	0
RBP3	5949	broad.mit.edu	37	10	48388676	48388676	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:48388676G>A	uc001jez.3	-	0	2316	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	734	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCTGTCTTGAACAGGGCCT	0.637000														14			27		0	0	0.007291	0	0
CHGB	1114	broad.mit.edu	37	20	5903556	5903556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:5903556C>T	uc002wmg.3	+	3	1072	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	256						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTCTAAAGGCCAACCCCGAAG	0.587000														8			11		0	0	0.008291	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452924	64452924	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:64452924G>A	uc011kdr.2	-	1	1075	c.481C>T	c.(481-483)Cca>Tca	p.P161S	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.P161S	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	161						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gttgttactggggaatcggtg	0.443000														100			45		0	0	0.008740	0	0
NAAA	27163	broad.mit.edu	37	4	76861192	76861192	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:76861192C>T	uc003hjb.3	-	1	397	c.333G>A	c.(331-333)gcG>gcA	p.A111A	NAAA_uc003hja.3_Silent_p.A111A|NAAA_uc003hjc.4_Silent_p.A111A|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Silent_p.A10A|NAAA_uc010iiz.1_Silent_p.A111A	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	111					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GAAGGCAGTCCGCCAGGCTGA	0.642000														43			29		0	0	0.007291	0	0
CCKAR	886	broad.mit.edu	37	4	26491812	26491812	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:26491812C>T	uc003gse.1	-	0	231	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	26					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGCAGAAAAGCGTCTCATTTT	0.478000														31			13		0	0	0.001855	0	0
MYO15A	51168	broad.mit.edu	37	17	18058014	18058014	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:18058014C>T	uc021trm.1	+	43	8388	c.8169C>T	c.(8167-8169)tcC>tcT	p.S2723S	MYO15A_uc021trl.1_Silent_p.S2721S|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_Intron|MYO15A_uc010vxk.1_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2723	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACACGCTCTCCGAGGCCTGCC	0.597000														36			25		0	0	0.004656	0	0
ENOX2	10495	broad.mit.edu	37	X	129813711	129813711	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:129813711G>A	uc004evw.3	-	6	770	c.352C>T	c.(352-354)Cct>Tct	p.P118S	ENOX2_uc004evx.3_Missense_Mutation_p.P89S|ENOX2_uc004evy.3_Missense_Mutation_p.P89S|ENOX2_uc004evv.3_5'UTR	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	118	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CGGGTTGCAGGAGGTGGGAGA	0.443000														40			25		0	0	0.005443	0	0
TRIM49	57093	broad.mit.edu	37	11	89537605	89537605	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:89537605C>T	uc001pdb.3	-	2	362	c.33G>A	c.(31-33)ggG>ggA	p.G11G		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	11						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGATGAGTTCCCCCTGAAAGA	0.468000														14			19		0	0	0.003954	0	0
OR6M1	390261	broad.mit.edu	37	11	123676126	123676126	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:123676126C>T	uc010rzz.2	-	0	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCAAGTTTTCCTTTGTATCAA	0.378000														71			11		0	0	0.000978	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743682	148743682	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:148743682C>T	uc003lqk.2	+	2	441	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	PCYOX1L_uc003lql.2_Silent_p.L110L|PCYOX1L_uc010jgz.2_Silent_p.L110L|PCYOX1L_uc003lqm.2_Silent_p.L9L|PCYOX1L_uc003lqn.2_Silent_p.L37L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	127					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGGTACCTGCTGAACCT	0.612000														15			39		0	0	0.004878	0	0
IMPAD1	54928	broad.mit.edu	37	8	57878821	57878821	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:57878821G>A	uc003xte.4	-	3	1023	c.737C>T	c.(736-738)tCa>tTa	p.S246L		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	246						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GACCATCCCTGAATGGGAACG	0.498000														53			41		0	0	0.007835	0	0
GFI1B	8328	broad.mit.edu	37	9	135865214	135865214	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr9:135865214C>G	uc004ccg.3	+	5	1089	c.734C>G	c.(733-735)aCg>aGg	p.T245R	GFI1B_uc010mzy.3_Missense_Mutation_p.T199R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	245	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CACTCAGACACGCGGCCCTAC	0.612000														10			23		0	0	0.001882	0	0
DENND5A	23258	broad.mit.edu	37	11	9199768	9199768	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:9199768G>A	uc001mhl.3	-	7	2074	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	DENND5A_uc010rbw.2_Missense_Mutation_p.S606F|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	606										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCAACTCGGGAATCAAATAC	0.448000														142			31		0	0	0.002096	0	0
SDK2	54549	broad.mit.edu	37	17	71415334	71415334	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:71415334C>T	uc010dfm.3	-	15	2157	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	SDK2_uc010dfn.2_Silent_p.Q398Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	719	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAATTCCATTCTGGTGGCTCT	0.617000														6			17		0	0	0.006122	0	0
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:77409717G>A	uc001oyn.3	-	6	2650	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_uc001oym.3_Nonsense_Mutation_p.R592*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	844					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R844*(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368000														64			16		0	0	0.008871	0	0
PLCL2	23228	broad.mit.edu	37	3	17052710	17052710	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:17052710C>T	uc011awc.2	+	2	1944	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	PLCL2_uc011awd.2_Silent_p.I498I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	624					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						TGGTCAGCATCTGCAAATCAG	0.433000														40			10		0	0	0.006214	0	0
RTP2	344892	broad.mit.edu	37	3	187416342	187416342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:187416342G>A	uc003fro.1	-	1	1051	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	208					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGCAGGCAGAGAGAGGCCCAG	0.582000														25			34		0	0	0.003755	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277230	71277230	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:71277230G>T	uc001oqt.1	+	0	622	c.597G>T	c.(595-597)caG>caT	p.Q199H		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	199						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGCTGCCAGTGTAAGATCT	0.547000														27			44		1.19451e-25	1.25565e-25	0.003610	1	0
F8	2157	broad.mit.edu	37	X	154194287	154194287	+	Silent	SNP	G	A	A	rs149756842		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:154194287G>A	uc004fmt.3	-	8	1572	c.1401C>T	c.(1399-1401)atC>atT	p.I467I		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	467	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGTCCCAAGATTCCTGATT	0.408000														20			53		0	0	0.003610	0	0
UBE2I	7329	broad.mit.edu	37	16	1370212	1370213	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:1370212_1370213CC>TT	uc002clc.2	+	4	391_392	c.261_262CC>TT	c.(259-264)taccct>taTTct	p.P88S	UBE2I_uc002cld.2_Missense_Mutation_p.P88S|UBE2I_uc002clf.2_Missense_Mutation_p.P88S|UBE2I_uc002clg.2_Missense_Mutation_p.P88S|UBE2I_uc002clh.1_Missense_Mutation_p.P88S|UBE2I_uc002cli.1_Missense_Mutation_p.P88S	NM_194261	NP_919237	P63279	UBC9_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA.	88				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	PML body|cytoplasm|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CGAATGTGTACCCTTCGGGGAC	0.550000														47			14		0	0	0.004672	0	0
BAI3	577	broad.mit.edu	37	6	70071078	70071078	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:70071078G>A	uc010kak.3	+	27	4189	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	BAI3_uc003pev.4_Missense_Mutation_p.E1305K|BAI3_uc011dxx.2_Missense_Mutation_p.E511K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1305					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGAATGATGGAAAGTGACTA	0.388000														24			22		0	0	0.010504	0	0
MRE11A	4361	broad.mit.edu	37	11	94192583	94192583	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:94192583G>A	uc009ywj.2	-	12	1820	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	MRE11A_uc001peu.2_Silent_p.I497I|MRE11A_uc001pev.2_Silent_p.I497I			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	497					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCTCCTCATCGATTTTGTCTT	0.353000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					48			14		0	0	0.004007	0	0
MYOM2	9172	broad.mit.edu	37	8	2037919	2037919	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:2037919G>A	uc003wpx.4	+	14	1871	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E	MYOM2_uc011kwi.2_Missense_Mutation_p.G3E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	578	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle	p.G578W(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATGGAAGGGAAGTCTTAT	0.577000														59			25		0	0	0.003330	0	0
NCOA6	23054	broad.mit.edu	37	20	33328797	33328797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:33328797G>A	uc002xav.3	-	11	7834	c.5263C>T	c.(5263-5265)Cct>Tct	p.P1755S	NCOA6_uc002xaw.3_Missense_Mutation_p.P1755S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1755S|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1755	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGATGAGAAGGGACAACTGGA	0.527000														48			31		0	0	0.008361	0	0
SSH1	54434	broad.mit.edu	37	12	109181953	109181953	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:109181953G>A	uc001tnm.3	-	14	3048	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F	SSH1_uc001tnl.3_Silent_p.F675F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	987	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCCGTTGAGAAGGTGAGAC	0.602000														127			123		0	0	0.003610	0	0
KRT18	3875	broad.mit.edu	37	12	53344588	53344588	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:53344588C>T	uc001sbe.3	+	3	624	c.555C>T	c.(553-555)ctC>ctT	p.L185L	KRT18_uc009zmn.2_Silent_p.L185L|KRT18_uc001sbg.3_Silent_p.L185L|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	185	Coil 1B.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TCCATGGGCTCCGCAAGGTCA	0.537000														11			9		0	0	0.008291	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:75072544C>T	uc001dgg.3	-	9	1449	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.P204P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	410								p.P410P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000														44			53		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					23			62		0	0	0.003610	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														35			12		0	0	0.010504	0	0
WDFY3	23001	broad.mit.edu	37	4	85617207	85617207	+	Silent	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:85617207T>C	uc003hpd.3	-	57	9225	c.8817A>G	c.(8815-8817)caA>caG	p.Q2939Q	WDFY3_uc003hpe.1_Silent_p.Q550Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2939	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGATATCCACTTGACCCTCAT	0.393000														58			14		0	0	0.001855	0	0
MXRA5	25878	broad.mit.edu	37	X	3240033	3240033	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:3240033C>T	uc004crg.4	-	4	3850	c.3693G>A	c.(3691-3693)cgG>cgA	p.R1231R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1231						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGTTTTCTCCGTGGTGTTC	0.488000														29			47		0	0	0.003610	0	0
ZNF217	7764	broad.mit.edu	37	20	52198662	52198662	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:52198662C>A	uc002xwq.4	-	0	1046	c.704G>T	c.(703-705)cGc>cTc	p.R235L	ZNF217_uc010gij.1_Missense_Mutation_p.R227L	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	235					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R235S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGCACCTTGCGGTGCTCAAT	0.522000														92			84		1.86864e-30	1.97205e-30	0.003610	1	0
SNAP91	9892	broad.mit.edu	37	6	84375219	84375219	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr6:84375219C>T	uc021zcf.1	-	1	242	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SNAP91_uc003pka.3_Missense_Mutation_p.S71N|SNAP91_uc011dze.2_Missense_Mutation_p.S71N|SNAP91_uc003pkc.3_Missense_Mutation_p.S71N|SNAP91_uc003pkd.3_Missense_Mutation_p.S71N|SNAP91_uc003pkb.3_Missense_Mutation_p.S36N|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	71	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACCACCCAGCTACTGTTTGT	0.403000														76			33		0	0	0.009535	0	0
EPB41	2035	broad.mit.edu	37	1	29314233	29314233	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:29314233C>T	uc001brm.2	+	1	411	c.284C>T	c.(283-285)tCc>tTc	p.S95F	EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.S95F|EPB41_uc009vtk.2_Missense_Mutation_p.S95F|EPB41_uc001brk.3_Missense_Mutation_p.S95F|EPB41_uc001brl.2_Missense_Mutation_p.S95F|EPB41_uc021okg.1_Missense_Mutation_p.S95F|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_5'UTR	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	95					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TCTCAGGTGTCCGAGGAAGAA	0.423000														60			64		0	0	0.003610	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411753	39411753	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr22:39411753C>T	uc003awr.3	+	1	274	c.171C>T	c.(169-171)aaC>aaT	p.N57N		NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA.	57					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TCTTCCGAAACCAGGTAGCAC	0.527000														26			55		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139839024	139839024	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr8:139839024C>T	uc003yvd.3	-	6	1293	c.846_splice	c.e6-1	p.E282_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	282	TSP N-terminal.				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)			GGAACACATCCCTGGAGAAAA	0.522000										HNSCC(7;0.00092)				24			12		0	0	0.001855	0	0
LMCD1	29995	broad.mit.edu	37	3	8607123	8607123	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr3:8607123C>T	uc003bqq.3	+	4	843	c.729C>T	c.(727-729)tgC>tgT	p.C243C	LMCD1_uc011atd.2_Silent_p.C170C|LMCD1_uc011ate.2_Silent_p.C131C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	243	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TCCAGGTCTGCGAGCTCTGCA	0.592000														165			31		0	0	0.002836	0	0
ZNFX1	57169	broad.mit.edu	37	20	47881379	47881379	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr20:47881379G>A	uc002xui.3	-	4	2272	c.2025C>T	c.(2023-2025)acC>acT	p.T675T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	675							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACAATGCTGGTCTTCTGAC	0.527000														72			84		0	0	0.003610	0	0
POLI	11201	broad.mit.edu	37	18	51820122	51820122	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr18:51820122C>T	uc002lfj.4	+	9	1576	c.1508C>T	c.(1507-1509)cCa>cTa	p.P503L	POLI_uc010xds.2_Missense_Mutation_p.P424L|POLI_uc002lfk.4_Missense_Mutation_p.P400L|POLI_uc010dpg.3_Missense_Mutation_p.P99L	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	503					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGGGAGTCTCCACTAGATACC	0.383000								DNA polymerases (catalytic subunits)						11			4		0	0	0.009096	0	0
GPR112	139378	broad.mit.edu	37	X	135426739	135426739	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chrX:135426739C>T	uc004ezu.1	+	5	1165	c.874C>T	c.(874-876)Cca>Tca	p.P292S	GPR112_uc010nsb.1_Missense_Mutation_p.P87S|GPR112_uc010nsc.1_Missense_Mutation_p.P59S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	292					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAACATCTCCACCTCTGGA	0.368000														51			36		0	0	0.005524	0	0
MTUS2	23281	broad.mit.edu	37	13	29599853	29599853	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr13:29599853C>T	uc001usl.4	+	0	1106	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	340						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAAGAGAATCTGTCAGCCTT	0.562000														32			20		0	0	0.008871	0	0
EFTUD2	9343	broad.mit.edu	37	17	42964082	42964082	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr17:42964082G>A	uc002ihn.2	-	2	403	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	EFTUD2_uc010wje.1_Missense_Mutation_p.H13Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H48Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	48						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				tcatcgtcatgatctcctacg	0.512000														25			16		0	0	0.004007	0	0
EMID2	136227	broad.mit.edu	37	7	101183258	101183258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr7:101183258G>A	uc010lhy.1	+	4	718	c.526G>A	c.(526-528)Gag>Aag	p.E176K	EMID2_uc003uyo.1_Missense_Mutation_p.E178K	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	178						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GACCTGGAATGAGGACTTCCT	0.662000														46			5		0	0	0.001168	0	0
KL	9365	broad.mit.edu	37	13	33638149	33638149	+	Silent	SNP	C	T	T			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr13:33638149C>T	uc001uus.3	+	4	2873	c.2865C>T	c.(2863-2865)ggC>ggT	p.G955G		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	955					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P954L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GTTTCCCGGGCCCAGAAACTC	0.443000														54			33		0	0	0.002445	0	0
LAIR1	3903	broad.mit.edu	37	19	54866989	54866989	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr19:54866989T>C	uc002qfk.1	-	9	1062	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	LAIR1_uc002qfl.1_Missense_Mutation_p.Y234C|LAIR1_uc002qfm.1_Missense_Mutation_p.Y250C|LAIR1_uc002qfn.1_Missense_Mutation_p.Y233C|LAIR1_uc010yex.2_Missense_Mutation_p.Y244C|LAIR1_uc002qfo.3_Missense_Mutation_p.Y233C	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	251						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CAGCTGAGCATACGTCACCTC	0.652000														10			42		0	0	0.009718	0	0
CLIP4	79745	broad.mit.edu	37	2	29386787	29386787	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr2:29386787A>G	uc002rmv.3	+	12	1864	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	CLIP4_uc002rmu.3_Missense_Mutation_p.Y542C|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	542	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCTCCAAGATATGGAATATTT	0.388000														48			22		0	0	0.001882	0	0
C10orf88	80007	broad.mit.edu	37	10	124697643	124697643	+	Silent	SNP	C	G	G	rs145904265	byFrequency	TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr10:124697643C>G	uc001lgw.2	-	4	906	c.681G>C	c.(679-681)tcG>tcC	p.S227S	C10orf88_uc001lgx.2_Silent_p.S129S	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	227										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TGCCCAACACCGACTGAAGCT	0.368000														12			15		0	0	0.004990	0	0
EIF2D	1939	broad.mit.edu	37	1	206770466	206770467	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr1:206770466_206770467CC>TT	uc001heh.2	-	11	1580_1581	c.1371_1372GG>AA	c.(1369-1374)tgggac>tgAAac	p.457_458WD>*N	EIF2D_uc009xbw.2_Nonsense_Mutation_p.333_334WD>*N	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	457					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGAAGACTGTCCCATGGAAGCT	0.426000														8			15		0	0	0.004672	0	0
GUCY2C	2984	broad.mit.edu	37	12	14796584	14796584	+	Silent	SNP	G	A	A			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr12:14796584G>A	uc001rcd.3	-	16	1991	c.1854C>T	c.(1852-1854)acC>acT	p.T618T		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	618	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.T618A(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTACGCAGTTGGTAGATTTCA	0.388000														57			51		0	0	0.003610	0	0
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	13	---	---	6	---					
GZMA	3001	broad.mit.edu	37	5	54405901	54405901	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr5:54405901delC	uc003jpm.3	+	4	717	c.680delC	c.(679-681)tccfs	p.S227fs		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	227	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGGGTCACTTCCTTTGGCCTT	0.483													---	59	---	---	45	---					
SHCBP1	79801	broad.mit.edu	37	16	46615932	46615933	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DA-A1I8-06A-11D-A197-08	TCGA-DA-A1I8-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd81e1-35fa-4579-8a4c-f7486adbb949	5c001667-5412-4e44-806e-a1040f0f300a	g.chr16:46615932_46615933delCT	uc002eec.4	-	12	1767_1768	c.1727_1728delAG	c.(1726-1728)gagfs	p.E576fs		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	576										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCACATCTGGCTCTCCACTTGT	0.381													---	122	---	---	12	---					
