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
DDX3X	1654	broad.mit.edu	37	X	41204554	41204554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:41204554G>A	uc004dfe.3	+	10	2002	c.1147G>A	c.(1147-1149)Gct>Act	p.A383T	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.A383T|DDX3X_uc011mkq.2_Missense_Mutation_p.A367T|DDX3X_uc011mkr.2_Missense_Mutation_p.A383T|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	383	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATGTTTAGTGCTACTTTTCC	0.343000										HNSCC(61;0.18)				80			16		0	0	0.008871	0	0
SPTA1	6708	broad.mit.edu	37	1	158607904	158607904	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:158607904G>T	uc001fst.1	-	35	5307	c.5108C>A	c.(5107-5109)gCt>gAt	p.A1703D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1703					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGGTGTGCAGCTGCCAATTC	0.443000														118			38		1.90571e-15	3.07031e-15	0.004289	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225585	118225585	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:118225585A>G	uc001lcl.4	+	7	933	c.832A>G	c.(832-834)Aac>Gac	p.N278D		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	278					lipid catabolic process	extracellular region	triglyceride lipase activity	p.C277S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGACTGTAACCATGCCCG	0.338000														28			28		0	0	0.008361	0	0
KLHDC9	126823	broad.mit.edu	37	1	161068775	161068775	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:161068775G>A	uc001fxr.3	+	0	595	c.450G>A	c.(448-450)cgG>cgA	p.R150R	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Silent_p.R150R|KLHDC9_uc001fxs.3_Silent_p.R150R	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	150										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGCTGGCCGGGAGGGCGGTA	0.647000														10			9		0	0	0.004482	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518202	161518202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:161518202G>A	uc003qtn.3	+	15	3660	c.3518G>A	c.(3517-3519)gGa>gAa	p.G1173E	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1169E|MAP3K4_uc003qto.3_Missense_Mutation_p.G1173E|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.G626E|MAP3K4_uc003qtp.3_Missense_Mutation_p.G159E	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1173					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACTCCAGAGGGATTCAGGTAT	0.488000														15			23		0	0	0.002299	0	0
SMC1B	27127	broad.mit.edu	37	22	45789546	45789546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:45789546C>T	uc003bgc.3	-	8	1565	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SMC1B_uc003bgd.3_Missense_Mutation_p.E505K|SMC1B_uc003bge.1_Missense_Mutation_p.E288K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	505	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAAGGTGTTCCAGAACCTCT	0.348000														42			37		0	0	0.002222	0	0
AP4E1	23431	broad.mit.edu	37	15	51221267	51221267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:51221267C>T	uc001zyx.2	+	5	711	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	AP4E1_uc021skz.1_Nonsense_Mutation_p.Q127*|AP4E1_uc010ufi.2_Nonsense_Mutation_p.Q202*|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	202					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGCTCCTAATCAAGTACAACA	0.353000														27			14		0	0	0.002450	0	0
DMBX1	127343	broad.mit.edu	37	1	46977741	46977741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:46977741C>T	uc001cpx.3	+	3	739	c.724C>T	c.(724-726)Cct>Tct	p.P242S	DMBX1_uc001cpw.3_Missense_Mutation_p.P237S	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	242					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GACCATCACTCCTGTGGCCCC	0.627000														176			29		0	0	0.001786	0	0
EPHA8	2046	broad.mit.edu	37	1	22903209	22903209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:22903209G>A	uc001bfx.1	+	2	784	c.659G>A	c.(658-660)gGg>gAg	p.G220E	EPHA8_uc001bfw.3_Missense_Mutation_p.G220E	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	220	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T219T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCAGTGACGGGGGCCGACTCG	0.637000														44			18		0	0	0.006122	0	0
TMC4	147798	broad.mit.edu	37	19	54666489	54666489	+	Silent	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:54666489G>T	uc010erf.3	-	9	1569	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	TMC4_uc002qdn.3_Silent_p.V193V|TMC4_uc002qdo.3_Silent_p.V473V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	479						integral to membrane		p.V473V(1)|p.V61V(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGGCCCAGGACAGTCTCCC	0.552000														50			7		1.12685e-05	1.76641e-05	0.004482	1	0
OR8I2	120586	broad.mit.edu	37	11	55861168	55861169	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:55861168_55861169CC>TT	uc010rix.2	+	0	385_386	c.385_386CC>TT	c.(385-387)ccc>TTc	p.P129F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AATCTGCAATCCCTTACTGTAT	0.441000														65			28		0	0	0.004672	0	0
GPR98	84059	broad.mit.edu	37	5	89953923	89953923	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:89953923T>C	uc003kju.3	+	20	4676	c.4580T>C	c.(4579-4581)aTt>aCt	p.I1527T	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1527	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATTCATTATTTCTGCAAGA	0.363000														89			40		0	0	0.007835	0	0
OR3A1	4994	broad.mit.edu	37	17	3195591	3195591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:3195591G>A	uc002fvh.1	-	0	286	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCCCCACAGGGAACTGCACGC	0.557000														47			22		0	0	0.003330	0	0
USP17L2	377630	broad.mit.edu	37	8	11996013	11996013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:11996013C>T	uc003wvc.1	-	0	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	86					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTATTTCCCATATTCTG	0.567000														244			29		0	0	0.004878	0	0
PHLPP2	23035	broad.mit.edu	37	16	71686892	71686892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71686892G>A	uc002fax.3	-	16	2624	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S806F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	873	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGAGCGGAGGAGCCCAACTT	0.517000														24			22		0	0	0.003954	0	0
FAM83H	286077	broad.mit.edu	37	8	144812692	144812692	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:144812692G>C	uc003yzk.3	-	1	130	c.61C>G	c.(61-63)Ccg>Gcg	p.P21A	FAM83H_uc022bch.1_Missense_Mutation_p.P21A	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	21					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGTGAGGCGGCAGGTACCCG	0.677000														19			12		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	33985221	33985221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:33985221C>T	uc001bxm.1	-	69	10970	c.10793G>A	c.(10792-10794)cGg>cAg	p.R3598Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R3454Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3454						integral to membrane|plasma membrane	protein binding	p.R3454L(1)|p.R3454Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAATGTGGCCCGAACATTGGT	0.532000														219			100		0	0	0.003610	0	0
LMOD3	56203	broad.mit.edu	37	3	69169211	69169211	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:69169211C>T	uc003dns.2	-	2	504	c.295_splice	c.e2-1	p.E99_splice	LMOD3_uc003dnt.2_Splice_Site_p.E99_splice	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	99	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGTCTTTTCCTACAAGAGA	0.313000														30			11		0	0	0.001855	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341289	50341289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:50341289C>T	uc004dpe.2	-	7	4215	c.4189G>A	c.(4189-4191)Gat>Aat	p.D1397N	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1397	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCCTCTGAATCGATGCTGTTC	0.522000														38			11		0	0	0.001855	0	0
TRPV5	56302	broad.mit.edu	37	7	142609705	142609705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:142609705C>T	uc003wby.1	-	12	1995	c.1731G>A	c.(1729-1731)atG>atA	p.M577I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	577					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGTCGCCCATCATGGCGATGA	0.542000														25			83		0	0	0.003610	0	0
OR10R2	343406	broad.mit.edu	37	1	158450547	158450547	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:158450547G>T	uc010pik.2	+	0	880	c.880G>T	c.(880-882)Gtg>Ttg	p.V294L	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V294E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGACAGGCTGGTGACGGTGAC	0.458000														56			28		7.38237e-10	1.18002e-09	0.006320	1	0
TMC7	79905	broad.mit.edu	37	16	19047031	19047031	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:19047031G>A	uc002dfp.2	+	6	1021	c.891G>A	c.(889-891)cgG>cgA	p.R297R	TMC7_uc010vao.1_Silent_p.R297R|TMC7_uc002dfq.3_Silent_p.R297R|TMC7_uc010vap.2_Silent_p.R187R	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	297						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCTGATTCGGAGTGAGGAGC	0.483000														58			26		0	0	0.007291	0	0
ITGA11	22801	broad.mit.edu	37	15	68643096	68643096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:68643096C>T	uc010bib.3	-	8	1006	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_uc002ari.3_Missense_Mutation_p.G307R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502000														53			28		0	0	0.008361	0	0
TRPC7	57113	broad.mit.edu	37	5	135551958	135551958	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:135551958G>A	uc003lbn.2	-	10	2571	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	TRPC7_uc010jef.2_Silent_p.I719I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.I334I|TRPC7_uc010jeh.2_Silent_p.I722I|TRPC7_uc010jei.2_Silent_p.I667I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	783					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGTTTCATGATTTTCTGAA	0.512000														11			6		0	0	0.001984	0	0
OR6C68	403284	broad.mit.edu	37	12	55886839	55886839	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:55886839C>T	uc010spo.2	+	0	693	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTAAAATTCCCTTCTGTTC	0.358000														19			11		0	0	0.008291	0	0
WNT7A	7476	broad.mit.edu	37	3	13916511	13916511	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:13916511G>A	uc003bye.1	-	1	536	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	77					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGCCATTGCGGAACTGAAACT	0.607000														28			18		0	0	0.001882	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243736	1243736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:1243736C>T	uc003jby.2	+	8	1321	c.1198C>T	c.(1198-1200)Cct>Tct	p.P400S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	400					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A399A(1)		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)			GCCGGGGGCTCCTGTGTGGGC	0.662000														49			30		0	0	0.001786	0	0
CFTR	1080	broad.mit.edu	37	7	117171039	117171039	+	Silent	SNP	G	A	A	rs1800077	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:117171039G>A	uc003vjd.3	+	3	492	c.360G>A	c.(358-360)gcG>gcA	p.A120A	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	120	ABC transmembrane type-1 1.		A -> T (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.I119M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTCTATCGCGATTTATCTAG	0.458000									Cystic Fibrosis					30			16		0	0	0.006122	0	0
PAK7	57144	broad.mit.edu	37	20	9561212	9561212	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:9561212G>A	uc002wnl.2	-	4	1115	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PAK7_uc002wnk.2_Silent_p.S190S|PAK7_uc002wnj.2_Silent_p.S190S|PAK7_uc010gby.1_Silent_p.S190S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	190	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGCAAAATCGGATTTCAAAG	0.468000														27			52		0	0	0.003610	0	0
SPATA7	55812	broad.mit.edu	37	14	88904536	88904536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:88904536C>T	uc001xwq.3	+	11	1991	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	SPATA7_uc001xwr.3_Missense_Mutation_p.H492Y|SPATA7_uc001xws.3_Missense_Mutation_p.H460Y|SPATA7_uc001xwt.3_Missense_Mutation_p.H418Y|SPATA7_uc001xwu.3_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	524					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GGATGAAAATCATCCAAGTAT	0.333000														70			16		0	0	0.004990	0	0
HDAC9	9734	broad.mit.edu	37	7	18706067	18706067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:18706067G>A	uc003sui.3	+	10	1740	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	HDAC9_uc003sue.3_Missense_Mutation_p.E564K|HDAC9_uc011jyd.2_Missense_Mutation_p.E564K|HDAC9_uc003suh.3_Missense_Mutation_p.E564K|HDAC9_uc003suj.3_Missense_Mutation_p.E523K|HDAC9_uc011jya.2_Missense_Mutation_p.E562K|HDAC9_uc003sua.1_Missense_Mutation_p.E542K|HDAC9_uc003sud.2_Missense_Mutation_p.E564K|HDAC9_uc011jyc.2_Missense_Mutation_p.E523K|HDAC9_uc011jyb.2_Missense_Mutation_p.E520K|HDAC9_uc003suf.2_Missense_Mutation_p.E595K|HDAC9_uc010kud.2_Missense_Mutation_p.E567K|HDAC9_uc011jye.2_Missense_Mutation_p.E536K|HDAC9_uc011jyf.2_Missense_Mutation_p.E487K|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	564					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGAAATGGAATCTGGGGA	0.453000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			9		0	0	0.004482	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725457	31725457	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:31725457G>A	uc021wuu.1	-	7	2066	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	OSBPL10_uc003ceu.1_Silent_p.A222A|OSBPL10_uc011axf.2_Silent_p.A401A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	465					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCTCGTGAAAGGCTGTGAGAT	0.552000														55			24		0	0	0.005443	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121191	38121191	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:38121191G>A	uc003atr.3	+	6	2899	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	TRIOBP_uc003atu.3_Silent_p.E704E|TRIOBP_uc003atq.1_Silent_p.E876E|TRIOBP_uc003ats.1_Silent_p.E704E	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	876					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAAGGAGAATCTGAGAC	0.522000														124			28		0	0	0.007291	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293840	67293840	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:67293840G>A	uc002esm.3	+	11	1896	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P	SLC9A5_uc010cee.3_Silent_p.P316P|SLC9A5_uc010vji.2_Silent_p.P115P|AK021876_uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	611					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCTACAAGCCGCGCCGTAGGG	0.597000														16			5		0	0	0.003080	0	0
YEATS2	55689	broad.mit.edu	37	3	183471995	183471995	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:183471995T>C	uc003fly.2	+	10	1427	c.1232T>C	c.(1231-1233)aTg>aCg	p.M411T		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	411					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCACCAAAATGACTACATCC	0.438000														72			36		0	0	0.003271	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375806	93375806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:93375806C>T	uc022bjs.1	-	0	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DIRAS2_uc004aqx.1_Missense_Mutation_p.E102K	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.E102K(6)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGATTTGTTCGTAGATGGGC	0.592000														20			64		0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23526666	23526666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:23526666G>A	uc003jgo.3	+	10	1651	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	490					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGTAGAGTGGGAAAAAGAATA	0.438000										HNSCC(3;0.000094)				19			15		0	0	0.002450	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765958	171765958	+	Silent	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:171765958A>G	uc003mbr.3	-	12	2322	c.2151T>C	c.(2149-2151)gaT>gaC	p.D717D		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	717					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCTGAGACCATCCTGTTTGC	0.637000														42			21		0	0	0.001523	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:111604089G>A	uc010hqa.3	+	1	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E416K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E389K|PHLDB2_uc003dye.4_Missense_Mutation_p.E389K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E389K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000														57			29		0	0	0.005443	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	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					13			59		0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201028413	201028413	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:201028413C>T	uc001gvv.3	-	26	3656	c.3429G>A	c.(3427-3429)tcG>tcA	p.S1143S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1143					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCATCTGCTCCGACTGGTTGT	0.572000														72			7		0	0	0.004482	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538630	105538630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:105538630C>T	uc010swr.2	+	21	2404	c.2317C>T	c.(2317-2319)Ccc>Tcc	p.P773S	KIAA1033_uc001tld.3_Missense_Mutation_p.P772S|KIAA1033_uc010sws.2_Missense_Mutation_p.P584S	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	772					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGCACATCTTCCCAGTCAGAC	0.383000														63			20		0	0	0.002780	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:39330868T>G	uc010xun.2	-	4	461	c.224A>C	c.(223-225)cAc>cCc	p.H75P	HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojk.3_Silent_p.P23P|HNRNPL_uc002ojl.3_Silent_p.P23P|HNRNPL_uc021uuh.1_Silent_p.P367P|HNRNPL_uc021uui.1_Silent_p.P234P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Silent_p.P23P			P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 2, mRNA.	367	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642000														9			3		0	0	0.004482	0	0
THRAP3	9967	broad.mit.edu	37	1	36755032	36755032	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:36755032G>A	uc001cae.4	+	4	1636	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	THRAP3_uc001caf.4_Nonsense_Mutation_p.W471*|THRAP3_uc001cag.1_Nonsense_Mutation_p.W471*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	471					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCAGGCAAATGGGAGGGCCTG	0.463000			T	USP6	aneurysmal bone cysts									78			27		0	0	0.005443	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089158	76089158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:76089158C>T	uc002jud.2	+	15	4715	c.4115C>T	c.(4114-4116)tCt>tTt	p.S1372F	TNRC6C_uc002juf.2_Missense_Mutation_p.S1369F	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1372	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGTGCCAAATCTGACAGTGAT	0.502000														29			19		0	0	0.001882	0	0
BRSK2	9024	broad.mit.edu	37	11	1471968	1471968	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:1471968A>G	uc001ltm.3	+	13	1830	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	BRSK2_uc009ycv.1_Missense_Mutation_p.N502S|BRSK2_uc001lth.1_Missense_Mutation_p.N480S|BRSK2_uc001lti.3_Missense_Mutation_p.N480S|BRSK2_uc001ltl.3_Missense_Mutation_p.N480S|BRSK2_uc001ltj.3_Missense_Mutation_p.N480S|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_5'UTR	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	480					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGCGGCTCAACTCCATCAAG	0.687000														13			5		0	0	0.000602	0	0
CCDC13	152206	broad.mit.edu	37	3	42794129	42794129	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:42794129A>T	uc003cly.4	-	3	535	c.451T>A	c.(451-453)Tca>Aca	p.S151T	CCDC13_uc003clz.2_Missense_Mutation_p.S151T|CCDC13_uc011azq.1_Missense_Mutation_p.S151T	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	151										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCACCCTCTGATTCTGCCATC	0.547000														68			25		0	0	0.004656	0	0
KIF13A	63971	broad.mit.edu	37	6	17764704	17764704	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:17764704G>A	uc003ncg.4	-	38	5215	c.5055C>T	c.(5053-5055)atC>atT	p.I1685I	KIF13A_uc003ncf.3_Silent_p.I1637I|KIF13A_uc003nch.4_Silent_p.I1650I|KIF13A_uc003nci.4_Silent_p.I1637I|KIF13A_uc003nce.2_Silent_p.I236I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1685					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTTCTCAGGGATGCTCTGGG	0.502000														50			20		0	0	0.001523	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856060	12856060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:12856060C>T	uc001auj.2	+	3	1443	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	447										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGCAGCCCAAGAGGATC	0.572000														319			54		0	0	0.003610	0	0
EZH1	2145	broad.mit.edu	37	17	40858189	40858189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:40858189G>A	uc010wgu.2	-	14	1729	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	EZH1_uc002iaz.3_Missense_Mutation_p.P559S|EZH1_uc002iba.3_Missense_Mutation_p.P550S|EZH1_uc010wgt.2_Missense_Mutation_p.P489S|EZH1_uc010wgv.2_Missense_Mutation_p.P519S|EZH1_uc010wgw.2_Missense_Mutation_p.P420S|EZH1_uc010cyp.2_Missense_Mutation_p.P460S|EZH1_uc010cyq.2_Missense_Mutation_p.P476S|EZH1_uc010cyo.1_Missense_Mutation_p.P222S	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	559	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CGACAGCCAGGGAAACGATTC	0.507000														42			23		0	0	0.003330	0	0
THEM5	284486	broad.mit.edu	37	1	151824911	151824911	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:151824911T>C	uc021oyw.1	-	1	280	c.148A>G	c.(148-150)Aca>Gca	p.T50A		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	50							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCAAGTCTGTCTTCTCTGGC	0.512000														53			58		0	0	0.003610	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	880	880	+	RNA	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrGL000237.1:880C>T	uc011mgu.1	-	1		c.338G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ccgtggctgccacaaccgcag	0.582000														26			3		0	0	0.000248	0	0
FLNA	2316	broad.mit.edu	37	X	153580735	153580735	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:153580735T>C	uc004fkk.2	-	40	6832	c.6583A>G	c.(6583-6585)Aac>Gac	p.N2195D	FLNA_uc011mzn.1_Missense_Mutation_p.N328D|FLNA_uc010nuu.1_Missense_Mutation_p.N2187D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2195					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGTGTGGTTCTCCCCTTCC	0.592000														65			24		0	0	0.003954	0	0
CSMD1	64478	broad.mit.edu	37	8	2876166	2876166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:2876166G>A	uc022aqr.1	-	51	8252	c.7862C>T	c.(7861-7863)tCg>tTg	p.S2621L	CSMD1_uc011kwj.2_Missense_Mutation_p.S1951L|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2622	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCACACGAGATAACTAG	0.393000														76			29		0	0	0.007291	0	0
MTOR	2475	broad.mit.edu	37	1	11300494	11300494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:11300494G>A	uc001asd.3	-	10	1773	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	551					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGGCGAAGGGGTTTGTGCAT	0.582000														56			42		0	0	0.007835	0	0
DMD	1756	broad.mit.edu	37	X	31462694	31462694	+	Silent	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:31462694A>G	uc004dda.1	-	59	9232	c.8988T>C	c.(8986-8988)aaT>aaC	p.N2996N	DMD_uc004dcq.1_Silent_p.N267N|DMD_uc004dcr.1_Silent_p.N536N|DMD_uc004dcs.1_Silent_p.N536N|DMD_uc004dct.1_Silent_p.N536N|DMD_uc004dcu.1_Silent_p.N536N|DMD_uc004dcv.1_Silent_p.N536N|DMD_uc004dcw.2_Silent_p.N1652N|DMD_uc004dcx.2_Silent_p.N1655N|DMD_uc004dcz.2_Silent_p.N2873N|DMD_uc004dcy.1_Silent_p.N2992N|DMD_uc004ddb.1_Silent_p.N2988N	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2996					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGCAAGGTCATTGACGTGGC	0.463000														53			19		0	0	0.008871	0	0
ZXDA	7789	broad.mit.edu	37	X	57936240	57936240	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:57936240G>A	uc004dve.3	-	0	828	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	205					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTTGGGGGGCGATCAGACACC	0.716000														22			5		0	0	0.000602	0	0
HSH2D	84941	broad.mit.edu	37	19	16268098	16268098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:16268098G>A	uc002ndp.4	+	7	1084	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	HSH2D_uc002ndr.3_Missense_Mutation_p.E128K|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	185						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AACCACCAAGGAAGCCACTTC	0.562000														29			15		0	0	0.004007	0	0
ZNF827	152485	broad.mit.edu	37	4	146823350	146823350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:146823350G>A	uc003ikn.3	-	1	1109	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	ZNF827_uc003ikm.3_Missense_Mutation_p.P354L|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	354	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTTCCCTTAGGAACTGGGAG	0.448000														38			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9090527	9090527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:9090527C>T	uc002mkp.3	-	0	1492	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	430	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTTCCTTCTGTTTCCTTT	0.498000														67			39		0	0	0.005524	0	0
HRNR	388697	broad.mit.edu	37	1	152187761	152187761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:152187761C>T	uc001ezt.1	-	2	6420	c.6344G>A	c.(6343-6345)gGg>gAg	p.G2115E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2115					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGACTGCCCTGAGCTAGA	0.587000														370			22		0	0	0.001786	0	0
RAD9B	144715	broad.mit.edu	37	12	110960065	110960065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:110960065G>A	uc001trf.4	+	9	1112	c.974G>A	c.(973-975)aGg>aAg	p.R325K	RAD9B_uc001trg.4_Missense_Mutation_p.R325K|RAD9B_uc010sya.2_Missense_Mutation_p.R256K|RAD9B_uc001tre.4_Missense_Mutation_p.R253K|RAD9B_uc001trd.4_Missense_Mutation_p.R167K	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	322					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCACCAAGAAGGCTTTATCCT	0.423000														9			8		0	0	0.003080	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013590	75013590	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:75013590G>A	uc002ayp.4	-	4	1238	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CYP1A1_uc010bjy.3_Silent_p.I372I|CYP1A1_uc010bju.3_Silent_p.I108I|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Silent_p.I108I|CYP1A1_uc002ayq.4_Silent_p.I372I|CYP1A1_uc010bjz.1_Silent_p.I108I	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	372					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTCTCCAGGATGAAGGCCT	0.577000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					87			29		0	0	0.008361	0	0
SENP7	57337	broad.mit.edu	37	3	101059023	101059023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:101059023C>T	uc003dut.3	-	15	2384	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	SENP7_uc003duu.3_Missense_Mutation_p.G693E|SENP7_uc003duv.3_Missense_Mutation_p.G725E|SENP7_uc003duw.3_Missense_Mutation_p.G692E|SENP7_uc003dux.3_Missense_Mutation_p.G594E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	758					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCTAATCCCCCCTTAGTAGG	0.294000														18			8		0	0	0.004482	0	0
OLFM3	118427	broad.mit.edu	37	1	102302438	102302438	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:102302438T>G	uc001duf.2	-	1	344	c.273A>C	c.(271-273)gaA>gaC	p.E91D	OLFM3_uc001dug.2_Missense_Mutation_p.E71D|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	91						extracellular region		p.D90Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCTACCTTTTCCAGTAGTT	0.443000														77			30		0	0	0.003755	0	0
FAM111A	63901	broad.mit.edu	37	11	58919259	58919259	+	Silent	SNP	C	T	T	rs148380599		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:58919259C>T	uc010rkp.2	+	4	345	c.118C>T	c.(118-120)Cta>Tta	p.L40L	FAM111A_uc010rkq.2_Silent_p.L40L|FAM111A_uc010rkr.2_Silent_p.L40L|FAM111A_uc001nno.3_Silent_p.L40L|FAM111A_uc001nnp.3_Silent_p.L40L|FAM111A_uc001nnq.3_Silent_p.L40L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	40					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGTACTTCTCTAATGAGGAT	0.393000														77			28		0	0	0.001786	0	0
DNMT1	1786	broad.mit.edu	37	19	10251856	10251856	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10251856C>A	uc002mng.3	-	29	3451	c.3271G>T	c.(3271-3273)Gca>Tca	p.A1091S	DNMT1_uc002mnf.3_Missense_Mutation_p.A15S|DNMT1_uc010xlc.2_Missense_Mutation_p.A1107S|DNMT1_uc002mnh.3_Missense_Mutation_p.A986S|DNMT1_uc010xld.2_Missense_Mutation_p.A1091S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1091	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGCTCTTTGCATTATAGGCC	0.453000														82			39		4.67007e-22	7.58419e-22	0.008740	1	0
PLGLA	285189	broad.mit.edu	37	2	107007391	107007391	+	RNA	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:107007391G>A	uc002tdp.3	+	2		c.240G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GACTGGGAATGGAAAGAACTA	0.463000														15			15		0	0	0.001882	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:21971208C>A	uc003zpk.3	-	2	457	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	51					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				22			25		1.12875e-08	1.79715e-08	0.006320	1	0
OR8B4	283162	broad.mit.edu	37	11	124294729	124294729	+	Silent	SNP	G	A	A	rs151066825		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:124294729G>A	uc010sak.2	-	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCCCACAAGGATAAACTCAG	0.488000														46			6		0	0	0.001168	0	0
OSTalpha	200931	broad.mit.edu	37	3	195959976	195959976	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:195959976C>A	uc003fwd.3	+	8	1130	c.929C>A	c.(928-930)aCt>aAt	p.T310N	OSTalpha_uc003fwe.3_Missense_Mutation_p.T177N	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	310						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TTTCTAATGACTGTGCTGACA	0.448000														89			46		7.88023e-25	1.28489e-24	0.003610	1	0
SCN11A	11280	broad.mit.edu	37	3	38889226	38889226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:38889226C>T	uc021wvy.1	-	25	4534	c.4335G>A	c.(4333-4335)atG>atA	p.M1445I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1445					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGTAGAAATCATTGTACCTC	0.507000														10			4		0	0	0.000248	0	0
RNF145	153830	broad.mit.edu	37	5	158601155	158601155	+	Silent	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:158601155T>C	uc010jiq.2	-	5	873	c.723A>G	c.(721-723)gtA>gtG	p.V241V	RNF145_uc011ddy.2_Silent_p.V225V|RNF145_uc003lxo.2_Silent_p.V239V|RNF145_uc011ddz.2_Silent_p.V228V|RNF145_uc003lxp.3_Silent_p.V211V|RNF145_uc011dea.2_Silent_p.V227V	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	211						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGCCATATACCTCCACTA	0.373000														11			7		0	0	0.001984	0	0
FBN1	2200	broad.mit.edu	37	15	48704822	48704822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:48704822G>A	uc001zwx.2	-	64	8565	c.8170C>T	c.(8170-8172)Ccc>Tcc	p.P2724S	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2724					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCGTTTGGGGTAGCCATTG	0.517000														115			56		0	0	0.003610	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026412	129026412	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:129026412G>C	uc002tpt.4	-	1	594	c.560C>G	c.(559-561)cCc>cGc	p.P187R		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	187	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGGGACACGGGGTCTCGTAG	0.632000														48			5		0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	A	A	rs143735478		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:135428482G>A	uc004ezu.1	+	5	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_uc010nsb.1_Missense_Mutation_p.E668K|GPR112_uc010nsc.1_Missense_Mutation_p.E640K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	873					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)					AGTGACAGACGAATCAGCACA	0.403000														81			63		0	0	0.003610	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077323	19077323	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:19077323G>A	uc001mph.3	-	1	715	c.627C>T	c.(625-627)atC>atT	p.I209I	MRGPRX2_uc021qer.1_Silent_p.I209I	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	209					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCCACAGAGGATCCTGACCA	0.547000														23			10		0	0	0.008291	0	0
MARK1	4139	broad.mit.edu	37	1	220805570	220805570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:220805570G>A	uc009xdw.3	+	10	1634	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	MARK1_uc001hmn.4_Missense_Mutation_p.R346Q|MARK1_uc010pun.2_Missense_Mutation_p.R346Q|MARK1_uc001hmm.4_Missense_Mutation_p.R324Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	346	UBA.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCTTTGCACGAGATGAAATA	0.313000														141			159		0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9453991	9453991	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:9453991C>T	uc021wam.1	+	33	3453	c.3438C>T	c.(3436-3438)ttC>ttT	p.F1146F	PLCB4_uc010gbx.3_Silent_p.F1158F|PLCB4_uc021wal.1_Silent_p.F1146F|PLCB4_uc002wnh.3_Silent_p.F993F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1146					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCTAGAATTCCTAGAGAAAC	0.383000														12			27		0	0	0.001786	0	0
TMTC2	160335	broad.mit.edu	37	12	83290317	83290317	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:83290317A>G	uc001szt.3	+	2	1807	c.1375A>G	c.(1375-1377)Aca>Gca	p.T459A	TMTC2_uc001szr.1_Missense_Mutation_p.T459A|TMTC2_uc001szs.1_Missense_Mutation_p.T459A|TMTC2_uc010suk.2_Missense_Mutation_p.T214A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	459						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTTTATGCTACAGCTACACT	0.413000														19			22		0	0	0.001523	0	0
TRIM29	23650	broad.mit.edu	37	11	120008047	120008047	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:120008047C>T	uc001pwz.3	-	0	817	c.693G>A	c.(691-693)acG>acA	p.T231T	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	231					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGAGCTCCATCGTCTTGCCAT	0.607000														35			21		0	0	0.001882	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163536	32163536	+	RNA	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:32163536C>T	uc002ecx.3	-	1		c.235G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GTGCCTTCTCCAAACTCATCG	0.577000														122			11		0	0	0.001368	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:27999214C>T	uc004dbx.1	-	0	353	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	80	Glu-rich.							p.E80K(4)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000														79			31		0	0	0.002445	0	0
KIF13B	23303	broad.mit.edu	37	8	28956730	28956730	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:28956730G>T	uc003xhh.4	-	35	4303	c.4244C>A	c.(4243-4245)tCc>tAc	p.S1415Y	KIF13B_uc011laz.2_5'UTR	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1415					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGTGGTTTGGGATACATCCTG	0.408000														124			74		1.45978e-39	2.3898e-39	0.003610	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35500853	35500853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:35500853C>T	uc010xsf.1	+	3	317	c.317C>T	c.(316-318)cCc>cTc	p.P106L	GRAMD1A_uc002nxi.1_Missense_Mutation_p.P188L|GRAMD1A_uc010xse.1_Missense_Mutation_p.P101L|GRAMD1A_uc002nxk.2_Missense_Mutation_p.P94L|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	101	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCAAACTCCCCGAAGCAGAA	0.612000														57			30		0	0	0.001786	0	0
DDX42	11325	broad.mit.edu	37	17	61890605	61890605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:61890605C>T	uc002jbu.3	+	15	1950	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	DDX42_uc002jbv.3_Missense_Mutation_p.P565S|DDX42_uc002jbw.1_Missense_Mutation_p.P301S|DDX42_uc002jbx.3_Missense_Mutation_p.P301S|DDX42_uc002jby.3_Missense_Mutation_p.P111S|DDX42_uc010wps.2_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	565	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCTGGACATTCCTTCAATTAA	0.428000														25			13		0	0	0.001855	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014796	119014797	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:119014796_119014797CC>TT	uc001ldd.2	+	6	872_873	c.709_710CC>TT	c.(709-711)ccc>TTc	p.P237F	SLC18A2_uc009xyy.2_Missense_Mutation_p.P34F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	237					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGTGGGCCCCCCCTTCGGGAGT	0.584000														19			21		0	0	0.004672	0	0
ZNF683	257101	broad.mit.edu	37	1	26691379	26691379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:26691379G>A	uc001bmg.1	-	3	776	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	ZNF683_uc001bmh.1_Missense_Mutation_p.L220F|ZNF683_uc009vsj.1_Missense_Mutation_p.L220F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGCAGCATGAGGAGGTGGGGA	0.607000														49			20		0	0	0.001523	0	0
ATP2A3	489	broad.mit.edu	37	17	3831527	3831527	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:3831527G>A	uc002fwy.2	-	20	3248	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	ATP2A3_uc010ckn.2_Intron|ATP2A3_uc002fwz.2_Intron|ATP2A3_uc002fxa.2_Silent_p.A1025A|ATP2A3_uc002fxb.2_Intron|ATP2A3_uc002fxc.2_Intron|ATP2A3_uc002fxd.2_Intron|ATP2A3_uc002fwx.2_Silent_p.A1025A	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	0					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATACCAAAGAGGCCAACCCGG	0.602000														33			20		0	0	0.001882	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718682	140718682	+	Silent	SNP	C	T	T	rs150708423		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:140718682C>T	uc003ljk.2	+	0	329	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.I48I	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	48	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCAACATCGCCAAGGACT	0.612000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			37		0	0	0.005524	0	0
KCNH7	90134	broad.mit.edu	37	2	163374610	163374610	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:163374610G>A	uc002uch.2	-	3	751	c.522C>T	c.(520-522)tcC>tcT	p.S174S	KCNH7_uc002uci.3_Silent_p.S174S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	174					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTGTGGTAAGGACTGCTTTC	0.403000														47			29		0	0	0.008361	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247899	43247899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:43247899C>T	uc002lbe.3	+	13	2635	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	SLC14A2_uc010dnj.3_Missense_Mutation_p.L607F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	607						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCTCGGCCTCTTCATCCA	0.557000														71			28		0	0	0.006320	0	0
GUK1	2987	broad.mit.edu	37	1	228334611	228334611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:228334611G>A	uc021pkf.1	+	3	361	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GUK1_uc021pke.1_Missense_Mutation_p.E75K|GUK1_uc001hsj.3_Missense_Mutation_p.E15K|GUK1_uc001hsh.3_Missense_Mutation_p.E75K|GUK1_uc001hsi.3_Missense_Mutation_p.E96K|GUK1_uc010pvv.2_Missense_Mutation_p.E75K|GJC2_uc001hsk.3_5'Flank	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	75	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CGAGCATGCCGAGTTCTCGGG	0.607000														95			30		0	0	0.004289	0	0
RYR2	6262	broad.mit.edu	37	1	237948051	237948051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:237948051G>A	uc001hyl.1	+	89	13159	c.13039G>A	c.(13039-13041)Gag>Aag	p.E4347K	RYR2_uc010pya.2_Missense_Mutation_p.E762K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4347					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGAGATGGGGAGGAGGGAGA	0.542000														49			52		0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366031	47366031	+	RNA	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:47366031G>A	uc001cqo.1	-	0		c.117C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		ACCTGAAACAGCAGCAGAGAC	0.557000														30			22		0	0	0.002780	0	0
IRF4	3662	broad.mit.edu	37	6	401457	401457	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:401457A>C	uc003msz.4	+	6	905	c.779A>C	c.(778-780)gAa>gCa	p.E260A	IRF4_uc010jne.2_Missense_Mutation_p.E260A|IRF4_uc003mtb.4_Missense_Mutation_p.E259A|IRF4_uc021ykl.1_Missense_Mutation_p.E106A|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.E90A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	260					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TACTACCGGGAAATCCTCGTG	0.622000			T	IGH@	MM									47			17		0	0	0.001523	0	0
COL1A2	1278	broad.mit.edu	37	7	94050349	94050349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:94050349G>A	uc003ung.1	+	37	2795	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	775			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCTGCTGGAAGTCGTGGT	0.428000										HNSCC(75;0.22)				53			28		0	0	0.001786	0	0
G6PC	2538	broad.mit.edu	37	17	41061429	41061429	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:41061429C>T	uc002icb.1	+	3	635	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	G6PC_uc010whf.1_Missense_Mutation_p.P162L	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	186					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCTGGAGTCCTGTCAGGTAT	0.498000														98			42		0	0	0.007835	0	0
MAP1A	4130	broad.mit.edu	37	15	43815653	43815653	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:43815653T>C	uc001zrt.3	+	3	2449	c.1982T>C	c.(1981-1983)aTg>aCg	p.M661T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	661						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTAGAAGAAATGGAGGAGGTA	0.478000														12			7		0	0	0.003080	0	0
OR2T10	127069	broad.mit.edu	37	1	248756222	248756222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:248756222G>A	uc010pzn.2	-	0	848	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283L(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCAAGACAGGTGTAAGGAT	0.398000														52			24		0	0	0.002299	0	0
SPATA17	128153	broad.mit.edu	37	1	217947741	217947741	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:217947741G>A	uc001hlh.1	+	6	611	c.585G>A	c.(583-585)aaG>aaA	p.K195K	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	195						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATTACAGAAGGCAAAGCCTT	0.423000														111			38		0	0	0.002522	0	0
MECOM	2122	broad.mit.edu	37	3	168833340	168833340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:168833340C>T	uc011bpj.1	-	7	2723	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	MECOM_uc010hwk.1_Missense_Mutation_p.D609N|MECOM_uc003ffj.3_Missense_Mutation_p.D651N|MECOM_uc003ffi.3_Missense_Mutation_p.D586N|MECOM_uc011bpi.1_Missense_Mutation_p.D587N|MECOM_uc003ffn.3_Missense_Mutation_p.D586N|MECOM_uc003ffk.2_Missense_Mutation_p.D586N|MECOM_uc003ffl.2_Missense_Mutation_p.D746N|MECOM_uc011bpk.1_Missense_Mutation_p.D586N|MECOM_uc010hwn.2_Missense_Mutation_p.D774N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATACTTAGATCCAGGGGCTGG	0.532000														43			16		0	0	0.008871	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135452	126135452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:126135452G>A	uc001uhe.1	+	6	1860	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D130N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	618						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCAGTTACAGGACGGCAGGAC	0.597000														31			10		0	0	0.006214	0	0
TEP1	7011	broad.mit.edu	37	14	20853249	20853250	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:20853249_20853250CC>TT	uc001vxe.3	-	20	3041_3042	c.3001_3002GG>AA	c.(3001-3003)ggg>AAg	p.G1001K	TEP1_uc010ahk.3_Missense_Mutation_p.G351K|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.G893K|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1001					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGAGCGCCCTGAAGGGTAC	0.594000														53			19		0	0	0.004672	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	A	A	rs139541363	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:129026419G>A	uc002tpt.4	-	1	587	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(4)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000														46			5		0	0	0.003080	0	0
TAF6	6878	broad.mit.edu	37	7	99711836	99711836	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:99711836G>A	uc003uth.3	-	0	305	c.168C>T	c.(166-168)tcC>tcT	p.S56S	TAF6_uc003utg.3_5'Flank|TAF6_uc003utm.3_5'UTR|TAF6_uc003uti.3_5'UTR|TAF6_uc003utk.3_5'UTR|TAF6_uc011kji.2_Silent_p.S36S	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCATTCTGGAGTCCCTCT	0.572000														49			26		0	0	0.006320	0	0
DMRT1	1761	broad.mit.edu	37	9	894120	894120	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:894120G>A	uc003zgv.3	+	2	896	c.747G>A	c.(745-747)ggG>ggA	p.G249G	DMRT1_uc003zgu.1_Silent_p.G249G	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	249					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ATCCCCTCGGGGGATCCCCTG	0.532000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			46		0	0	0.003610	0	0
OVOS2	0	broad.mit.edu	37	12	31307356	31307356	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:31307356T>C	uc010sjy.1	-	6	724	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;									p.K242E(2)				all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATTTGGGTTTTCCCTTGCACA	0.383000														11			3		0	0	0.000248	0	0
LRRC40	55631	broad.mit.edu	37	1	70652993	70652993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:70652993G>A	uc001der.2	-	2	500	c.362C>T	c.(361-363)cCt>cTt	p.P121L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	121										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TATAGCAGAAGGAAGGGATGT	0.274000														57			29		0	0	0.002836	0	0
OPN3	23596	broad.mit.edu	37	1	241761296	241761296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:241761296G>A	uc001hza.3	-	2	842	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	233					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCACACAACGAAGCTGCAGA	0.353000														22			6		0	0	0.001168	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026939	45026939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:45026939C>T	uc010ejn.1	-	3	491	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	CEACAM20_uc010ejo.1_Missense_Mutation_p.G159S|CEACAM20_uc010ejp.1_Missense_Mutation_p.G159S|CEACAM20_uc010ejq.1_Missense_Mutation_p.G159S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	159						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGATCAGGACCATCTGAGAGG	0.458000														154			92		0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238270418	238270418	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:238270418C>T	uc002vwl.2	-	14	6405	c.6120G>A	c.(6118-6120)agG>agA	p.R2040R	COL6A3_uc002vwo.2_Silent_p.R1834R|COL6A3_uc010znj.1_Silent_p.R1433R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2040	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCGGTCTCCCCTCTGCCCAG	0.552000														54			24		0	0	0.003330	0	0
IGSF21	84966	broad.mit.edu	37	1	18661458	18661458	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:18661458G>A	uc001bau.2	+	3	761	c.378G>A	c.(376-378)agG>agA	p.R126R		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	126	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCGCCACCAGGGAGAAGGTGG	0.612000														36			14		0	0	0.002450	0	0
NXT1	29107	broad.mit.edu	37	20	23334690	23334690	+	Silent	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:23334690G>T	uc021wbj.1	+	0	12	c.12G>T	c.(10-12)gtG>gtT	p.V4V	NXT1_uc002wsx.1_Silent_p.V4V	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	4						cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGGCATCTGTGGATTTCAAGA	0.547000														79			27		1.5548e-18	2.51494e-18	0.005443	1	0
C10orf81	79949	broad.mit.edu	37	10	115531737	115531737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:115531737G>A	uc001lat.2	+	6	1105	c.543G>A	c.(541-543)atG>atA	p.M181I	C10orf81_uc009xyc.2_Missense_Mutation_p.M99I|C10orf81_uc001lar.2_Missense_Mutation_p.M187I|C10orf81_uc001las.2_Missense_Mutation_p.M99I|C10orf81_uc001lau.2_Missense_Mutation_p.M1I	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	181										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AGCATTTAATGGAACAAAGTT	0.343000														25			24		0	0	0.002780	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:15535023G>A	uc002nbc.3	-	6	2741	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	WIZ_uc002nba.4_Silent_p.F773F|WIZ_uc002nbb.4_Silent_p.F732F	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000														11			10		0	0	0.006214	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266097	3266097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:3266097G>A	uc010uwv.2	+	0	536	c.388G>A	c.(388-390)Gct>Act	p.A130T						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		CCTGCTGATGGCTCGACTCTC	0.532000														20			13		0	0	0.001368	0	0
DDX12P	440081	broad.mit.edu	37	12	9573223	9573223	+	RNA	SNP	C	A	A	rs4763936	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:9573223C>A	uc021qut.1	-	10		c.2175G>T			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		AGAAACCACACCGCACAGGTT	0.612000														35			8		3.09899e-07	4.8767e-07	0.004482	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884208	228884208	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:228884208C>T	uc002vpq.2	-	6	1409	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	SPHKAP_uc002vpp.2_Silent_p.Q454Q|SPHKAP_uc010zlx.1_Silent_p.Q454Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	454						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCTGGACTCTGAACAACGA	0.502000														51			20		0	0	0.007413	0	0
NCAM1	4684	broad.mit.edu	37	11	113076293	113076293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:113076293G>A	uc021qqp.1	+	3	761	c.389G>A	c.(388-390)gGg>gAg	p.G130E	NCAM1_uc001pno.3_Missense_Mutation_p.G14E|NCAM1_uc001pnp.3_Missense_Mutation_p.G130E|NCAM1_uc021qqo.1_Missense_Mutation_p.G130E|NCAM1_uc001pnq.3_Missense_Mutation_p.G130E|NCAM1_uc001pnr.3_Missense_Mutation_p.G130E	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	132	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.G122E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCCGGGAGGGGGAAGATGCC	0.502000														51			28		0	0	0.007291	0	0
C12orf40	283461	broad.mit.edu	37	12	40114730	40114730	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:40114730A>G	uc001rmc.3	+	12	1803	c.1636A>G	c.(1636-1638)Aaa>Gaa	p.K546E	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	546								p.D545N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAACGATGACAAAATTCACAA	0.333000														36			16		0	0	0.007413	0	0
SPNS3	201305	broad.mit.edu	37	17	4356416	4356416	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:4356416C>T	uc002fxt.3	+	7	1073	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	SPNS3_uc002fxu.3_Silent_p.L216L	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	343					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGAGCCCCTCATCTGCGCCT	0.607000														95			47		0	0	0.003610	0	0
C15orf33	196951	broad.mit.edu	37	15	49800546	49800546	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:49800546C>T	uc001zxl.2	-	11	1169	c.875_splice	c.e11-1	p.G292_splice	C15orf33_uc001zxm.3_Splice_Site_p.G258_splice	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	292										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGTTTTAAACCTGTTAATATA	0.299000														43			15		0	0	0.003163	0	0
ADAM18	8749	broad.mit.edu	37	8	39535031	39535031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:39535031C>T	uc003xni.3	+	14	1662	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S512L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	536	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.S536L(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTAAAAATTCACAACCATTA	0.318000														23			12		0	0	0.000978	0	0
CDH9	1007	broad.mit.edu	37	5	26902839	26902840	+	Splice_Site	DNP	CT	TA	TA			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:26902839_26902840CT>TA	uc003jgs.1	-	7	1169	c.1000_splice	c.e7-1	p.N334_splice		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATCTAAATTCTGGAGTTAAAT	0.322000														20			6		0	0	0.004672	0	0
AK310228	0	broad.mit.edu	37	16	16465411	16465411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:16465411C>T	uc002dey.2	+	0	415	c.128C>T	c.(127-129)tCc>tTc	p.S43F						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		TCCGCCAACTCCGTTGTGGTC	0.662000														27			19		0	0	0.001882	0	0
DSC1	1823	broad.mit.edu	37	18	28710554	28710554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:28710554C>T	uc002kwn.3	-	15	2870	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	870					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCCTCTTCTTCCTGCCGATCG	0.423000														56			24		0	0	0.003954	0	0
KANK2	25959	broad.mit.edu	37	19	11289247	11289247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:11289247C>T	uc002mqm.3	-	2	1478	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	KANK2_uc021upe.1_Missense_Mutation_p.E467K|KANK2_uc002mqo.4_Missense_Mutation_p.E467K|KANK2_uc002mqp.1_Missense_Mutation_p.E276K	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	467										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGGCCTCCTCGGACTCTTGG	0.682000														32			11		0	0	0.002450	0	0
COL5A3	50509	broad.mit.edu	37	19	10088149	10088149	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10088149C>T	uc002mmq.1	-	43	3213	c.3127_splice	c.e43-1	p.G1043_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1043	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACGTTCTCCCTGTTGTGGGG	0.657000														46			31		0	0	0.002096	0	0
ATG7	10533	broad.mit.edu	37	3	11356816	11356816	+	Splice_Site	SNP	A	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:11356816A>T	uc003bwc.3	+	7	646	c.529_splice	c.e7-2	p.I177_splice	ATG7_uc003bwd.3_Splice_Site_p.I177_splice|ATG7_uc011aum.2_Splice_Site_p.I138_splice	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	177					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTCTGTTTTCAGATTGAAGCA	0.348000														26			9		0	0	0.000978	0	0
SIRPD	128646	broad.mit.edu	37	20	1532376	1532376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:1532376C>T	uc002wfi.3	-	1	426	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	128	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GATTGGTACTCCTTGATAGCT	0.478000														33			37		0	0	0.004878	0	0
PRSS48	345062	broad.mit.edu	37	4	152203360	152203360	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:152203360G>A	uc011cif.2	+	2	276	c.276G>A	c.(274-276)agG>agA	p.R92R	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTGACTCAAGGAAACGTGTGA	0.478000														108			105		0	0	0.003610	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252710	100252710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:100252710C>T	uc003uvy.3	-	3	408	c.301G>A	c.(301-303)Gat>Aat	p.D101N	ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	101					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TAGGTGTGATCCAGGATGGCT	0.597000														37			18		0	0	0.007413	0	0
CRTC2	200186	broad.mit.edu	37	1	153921594	153921594	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:153921594C>T	uc021pab.1	-	11	1830	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Silent_p.G93G	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	557					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TACTCACATTCCCCAGGTTGA	0.587000														33			32		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9089201	9089201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:9089201G>A	uc002mkp.3	-	0	2818	c.2614C>T	c.(2614-2616)Cca>Tca	p.P872S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	872	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACAGATGGATTCGAAGTT	0.493000														31			11		0	0	0.008291	0	0
ITIH3	3699	broad.mit.edu	37	3	52835084	52835084	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:52835084C>T	uc003dfv.2	+	10	1341	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ITIH3_uc011bek.1_Silent_p.F435F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	435	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTATAACTTCCTGGAGAACA	0.498000														48			30		0	0	0.008361	0	0
IRS1	3667	broad.mit.edu	37	2	227661962	227661962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:227661962G>A	uc021vxn.1	-	0	1493	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I	IRS1_uc002voh.4_Missense_Mutation_p.T498I	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	498					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCAAGCCTGTTCCTGGGGT	0.602000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			21		0	0	0.008871	0	0
HYDIN	54768	broad.mit.edu	37	16	71007919	71007919	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71007919A>G	uc002ezr.3	-	33	5190	c.5039T>C	c.(5038-5040)gTt>gCt	p.V1680A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1681										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCCCTCCAACCACCTAGAG	0.483000														38			20		0	0	0.003954	0	0
LIPF	8513	broad.mit.edu	37	10	90435346	90435346	+	Missense_Mutation	SNP	C	T	T	rs138641581	byFrequency	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:90435346C>T	uc001kfg.2	+	7	934	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	LIPF_uc001kfh.2_Missense_Mutation_p.R251C|LIPF_uc010qmt.2_Missense_Mutation_p.R284C|LIPF_uc010qmu.2_Missense_Mutation_p.R241C	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	274					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTCTAGAGTCGCTTGGATGT	0.333000														12			17		0	0	0.007413	0	0
CAPS2	84698	broad.mit.edu	37	12	75685567	75685567	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:75685567G>A	uc001sxl.3	-	12	1226	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CAPS2_uc001sxm.3_Silent_p.I186I|CAPS2_uc009zsa.2_Silent_p.I8I|CAPS2_uc001sxi.4_Silent_p.I154I|CAPS2_uc001sxj.4_Silent_p.I329I|CAPS2_uc001sxk.4_Silent_p.I418I	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	418							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTCTTGAATGATTATATCAT	0.313000														21			22		0	0	0.006320	0	0
POF1B	79983	broad.mit.edu	37	X	84634308	84634308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:84634308C>T	uc004eer.2	-	1	298	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	POF1B_uc004ees.3_Missense_Mutation_p.R51Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	51							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTCCTCACTCGCTCATACAC	0.567000														23			17		0	0	0.006122	0	0
GRIA2	2891	broad.mit.edu	37	4	158254053	158254054	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:158254053_158254054CC>TT	uc003ipm.4	+	6	1424_1425	c.965_966CC>TT	c.(964-966)tcc>tTT	p.S322F	GRIA2_uc011cit.2_Missense_Mutation_p.S275F|GRIA2_uc003ipl.4_Missense_Mutation_p.S322F|GRIA2_uc003ipk.4_Missense_Mutation_p.S275F|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	322					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTGAAATCTCCCGAAGGGGGA	0.485000														45			39		0	0	0.004672	0	0
AP1M1	8907	broad.mit.edu	37	19	16337294	16337294	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:16337294C>T	uc002ndv.2	+	6	818	c.645C>T	c.(643-645)ttC>ttT	p.F215F	AP1M1_uc002ndu.2_Silent_p.F203F|AP1M1_uc010xpd.1_Silent_p.F203F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	203	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGCGAGTCTTCCTCTCGGGCA	0.647000														5			4		0	0	0.000602	0	0
MARCO	8685	broad.mit.edu	37	2	119752007	119752007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:119752007G>A	uc002tln.1	+	16	1606	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	MARCO_uc010yyf.1_Missense_Mutation_p.E414K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	492	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E492D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCGGGGCACGGAGAGTACCCT	0.562000														49			8		0	0	0.003080	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681192	106681192	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:106681192T>G	uc009yxn.1	-	4	1609	c.1219A>C	c.(1219-1221)Aaa>Caa	p.K407Q	GUCY1A2_uc001pjg.1_Missense_Mutation_p.K407Q|GUCY1A2_uc010rvo.1_Missense_Mutation_p.K428Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	407					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATTTGTCCTTTGACTTCCATC	0.358000														36			11		0	0	0.002450	0	0
SYNE2	23224	broad.mit.edu	37	14	64465735	64465735	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:64465735C>T	uc001xgl.3	+	26	3687	c.3457C>T	c.(3457-3459)Cag>Tag	p.Q1153*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.Q1153*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.Q1153*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1153					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCTTGTCTGCAGGCTAAACT	0.363000														47			7		0	0	0.001984	0	0
HSPA9	3313	broad.mit.edu	37	5	137906798	137906798	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:137906798G>A	uc003ldf.3	-	3	572	c.261C>T	c.(259-261)acC>acT	p.T87T	HSPA9_uc011cyw.2_Silent_p.T18T	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	87					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAACTGAAGGGGTGGTTCTGG	0.468000														25			16		0	0	0.004007	0	0
PACS1	55690	broad.mit.edu	37	11	65984200	65984200	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:65984200T>G	uc001oha.2	+	6	1066	c.932T>G	c.(931-933)gTg>gGg	p.V311G	PACS1_uc001ogz.1_Missense_Mutation_p.V311G	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	311					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCCGGAAAGTGAAGAAGACC	0.527000														29			11		0	0	0.001368	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418986	10418986	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10418986C>T	uc002mnw.4	-	0	1248	c.372G>A	c.(370-372)caG>caA	p.Q124Q	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	124					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGGCCTTCTCTGGGGTGGGG	0.652000														19			6		0	0	0.001168	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647706	235647706	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:235647706A>G	uc001hxc.2	-	3	716	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	B3GALNT2_uc001hxd.1_Missense_Mutation_p.F204L	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	163					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCATCGTAGAACACTCCAAGA	0.483000														138			60		0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14613891	14613891	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:14613891C>T	uc003ssz.3	-	18	1906	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	DGKB_uc011jxt.2_Silent_p.E554E|DGKB_uc003sta.3_Silent_p.E573E|DGKB_uc011jxu.2_Silent_p.E572E	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	573					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGTCTCCTTTCTCATCTTTGT	0.358000														144			63		0	0	0.003610	0	0
ZNF335	63925	broad.mit.edu	37	20	44577618	44577618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:44577618C>T	uc002xqw.3	-	27	4126	c.4003G>A	c.(4003-4005)Gac>Aac	p.D1335N	ZNF335_uc002xqv.3_Missense_Mutation_p.D447N|ZNF335_uc010zxk.2_Missense_Mutation_p.D1180N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGATGACGTCGTACTCGATG	0.617000														90			13		0	0	0.002450	0	0
MYO3B	140469	broad.mit.edu	37	2	171323156	171323157	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:171323156_171323157GG>AC	uc002ufy.3	+	24	3092_3093	c.2949_2950GG>AC	c.(2947-2952)ctggag>ctACag	p.E984Q	MYO3B_uc002ufv.3_Missense_Mutation_p.E971Q|MYO3B_uc010fqb.1_Missense_Mutation_p.E984Q|MYO3B_uc002ufz.3_Missense_Mutation_p.E984Q|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	984	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGGGATTCTGGAGACAGTCAG	0.535000														79			20		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13753547	13753547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:13753547G>A	uc003jfd.2	-	62	10709	c.10667C>T	c.(10666-10668)cCa>cTa	p.P3556L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCCAAATGGAATTTTCCG	0.398000									Kartagener syndrome					101			41		0	0	0.003214	0	0
KBTBD5	131377	broad.mit.edu	37	3	42733374	42733374	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:42733374G>A	uc003clv.1	+	6	1855	c.1755_splice	c.e6-1	p.R585_splice		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	585										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCATCCCCAGGTATAACGAGG	0.592000														51			33		0	0	0.004289	0	0
POTEC	388468	broad.mit.edu	37	18	14511986	14511986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:14511986G>A	uc010dln.3	-	10	1994	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	514										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTATGACTAAGAGAAAGCTAA	0.313000														14			5		0	0	0.000602	0	0
LIMK1	3984	broad.mit.edu	37	7	73534932	73534932	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:73534932G>A	uc003uaa.2	+	13	1801	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.K495K	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	529	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ATGATGAGAAGGTGGATGTGT	0.607000														58			20		0	0	0.002299	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410701	153410701	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:153410701C>T	uc010pdx.2	-	1	216	c.138G>A	c.(136-138)ttG>ttA	p.L46L		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCCTTCATCAAGTTCACCA	0.512000														54			17		0	0	0.006122	0	0
MYO15A	51168	broad.mit.edu	37	17	18077192	18077192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:18077192G>A	uc021trm.1	+	63	10667	c.10448G>A	c.(10447-10449)gGg>gAg	p.G3483E	MYO15A_uc021trl.1_Missense_Mutation_p.G3481E|MYO15A_uc010vxi.2_Missense_Mutation_p.G747E|MYO15A_uc002gsl.3_Silent_p.G515G|MYO15A_uc010vxm.2_Intron|MYO15A_uc010cpv.3_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3483	FERM.|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)					ATTGCGCTGGGGGACGTGGCG	0.642000														29			17		0	0	0.007413	0	0
ZNF407	55628	broad.mit.edu	37	18	72343420	72343420	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:72343420A>T	uc002llw.2	+	0	498	c.445A>T	c.(445-447)Act>Tct	p.T149S	ZNF407_uc010xfc.2_Missense_Mutation_p.T149S|ZNF407_uc010dqu.2_Missense_Mutation_p.T149S|ZNF407_uc002llu.2_Missense_Mutation_p.T148S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAACAGACACTGAAAAAAC	0.428000														30			10		0	0	0.008291	0	0
DOK6	220164	broad.mit.edu	37	18	67345018	67345018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:67345018G>A	uc002lkl.3	+	3	535	c.338G>A	c.(337-339)gGg>gAg	p.G113E		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	113							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GAGTGTCTGGGGACCAGGCTC	0.557000														61			15		0	0	0.003163	0	0
C6orf72	116254	broad.mit.edu	37	6	149901054	149901054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:149901054G>A	uc003qmq.1	+	4	537	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	C6orf72_uc010kie.1_Missense_Mutation_p.E52K	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	172						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		CCTCCCTTTGGAAGAAAGCAT	0.353000														25			34		0	0	0.003755	0	0
BCL11A	53335	broad.mit.edu	37	2	60688755	60688755	+	Missense_Mutation	SNP	G	A	A	rs138166869		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:60688755G>A	uc002sae.1	-	3	1520	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	BCL11A_uc002sab.3_Missense_Mutation_p.S431L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S100L|BCL11A_uc010ypj.2_Missense_Mutation_p.S397L|BCL11A_uc002sad.1_Missense_Mutation_p.S279L|BCL11A_uc002saf.1_Missense_Mutation_p.S397L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	431					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S431L(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CATGGGGGACGATTTGTGCAT	0.652000			T	IGH@	B-CLL									262			175		0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515650	70515650	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:70515650G>A	uc001xly.3	-	6	2995	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	SLC8A3_uc001xlv.3_Silent_p.P118P|SLC8A3_uc001xlu.3_Silent_p.P104P|SLC8A3_uc001xlw.3_Silent_p.P744P|SLC8A3_uc001xlx.3_Silent_p.P745P|SLC8A3_uc001xlz.3_Silent_p.P741P|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.P104P	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	747					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACTCTGTGGGGGGCACACAGG	0.597000														23			7		0	0	0.001984	0	0
FBLN2	2199	broad.mit.edu	37	3	13612972	13612972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:13612972G>A	uc011avc.2	+	1	1499	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	FBLN2_uc011auz.2_Missense_Mutation_p.V399M|FBLN2_uc011avb.2_Missense_Mutation_p.V373M|FBLN2_uc011ava.2_Missense_Mutation_p.V373M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	373	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTCAGGCCGTGCCTGGCTC	0.667000														18			4		0	0	0.000248	0	0
SPEG	10290	broad.mit.edu	37	2	220334052	220334052	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:220334052C>T	uc010fwg.3	+	12	3666	c.3666C>T	c.(3664-3666)ttC>ttT	p.F1222F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1222	Ig-like 6.				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)		TCAGCTGGTTCCACAATGGCC	0.647000														14			7		0	0	0.003080	0	0
COL25A1	84570	broad.mit.edu	37	4	109784498	109784498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:109784498C>T	uc021xqo.1	-	19	1185	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	COL25A1_uc003hze.1_Missense_Mutation_p.E377K|COL25A1_uc021xqp.1_Missense_Mutation_p.E377K|COL25A1_uc003hzg.3_Missense_Mutation_p.E377K|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.E158K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	377	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G376R(1)|p.G376V(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCTCCAGGTTCCCCTCGCTCA	0.488000														19			23		0	0	0.005443	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987610	223987611	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:223987610_223987611CC>TT	uc001hod.3	-	11	1899_1900	c.1088_1089GG>AA	c.(1087-1089)cgg>cAA	p.R363Q	TP53BP2_uc010pvb.2_Missense_Mutation_p.R492Q|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.R131Q	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	486					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCTGAGCATCCCGCAAGATATC	0.411000														32			29		0	0	0.004672	0	0
OR5P2	120065	broad.mit.edu	37	11	7817644	7817644	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:7817644G>T	uc001mfp.1	-	0	846	c.846C>A	c.(844-846)aaC>aaA	p.N282K		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGATCAGGGGGTTCAACATGG	0.423000														67			12		1.08611e-07	1.7158e-07	0.000978	1	0
CSF2RB	1439	broad.mit.edu	37	22	37334036	37334036	+	Missense_Mutation	SNP	C	T	T	rs147430768		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:37334036C>T	uc003aqa.4	+	13	2403	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	CSF2RB_uc003aqc.4_Missense_Mutation_p.S735F	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	729					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCGTCTGTCTCCCTAGTTCCC	0.632000														96			20		0	0	0.003330	0	0
OR4L1	122742	broad.mit.edu	37	14	20528879	20528879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:20528879C>T	uc001vwn.1	+	0	676	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGTCAGTGTACCAAAAAAATC	0.438000														76			41		0	0	0.003214	0	0
PKP2	5318	broad.mit.edu	37	12	32949190	32949190	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:32949190G>C	uc001rlj.4	-	11	2457	c.2342C>G	c.(2341-2343)aCa>aGa	p.T781R	PKP2_uc001rlk.4_Missense_Mutation_p.T737R|PKP2_uc010skj.2_Missense_Mutation_p.T734R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	781					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTCGGGACTGTGTCAGGAAT	0.378000														23			8		0	0	0.004482	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033983	52033983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:52033983G>A	uc002pwy.3	-	2	866	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P220S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P184S|SIGLEC6_uc010ydc.2_Missense_Mutation_p.P220S|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P220S|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P209S|SIGLEC6_uc010epa.2_Missense_Mutation_p.P209S|SIGLEC6_uc010epb.2_Missense_Mutation_p.P173S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	220	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCGGCTCCAGGGAACGTCACC	0.667000														59			35		0	0	0.003755	0	0
SV2A	9900	broad.mit.edu	37	1	149885219	149885219	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:149885219G>A	uc001etg.3	-	1	665	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SV2A_uc001eth.2_Silent_p.F58F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	58					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGAGCAGGGAAGTCATCAT	0.547000														55			71		0	0	0.003610	0	0
TNIK	23043	broad.mit.edu	37	3	170819380	170819380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:170819380C>T	uc003fhh.2	-	21	2794	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TNIK_uc003fhi.2_Missense_Mutation_p.E762K|TNIK_uc003fhj.2_Missense_Mutation_p.E788K|TNIK_uc003fhk.2_Missense_Mutation_p.E809K|TNIK_uc003fhl.2_Missense_Mutation_p.E733K|TNIK_uc003fhm.2_Missense_Mutation_p.E754K|TNIK_uc003fhn.2_Missense_Mutation_p.E780K|TNIK_uc003fho.2_Missense_Mutation_p.E725K|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	817	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGTTTCTTCAATCCGGAGT	0.453000														79			57		0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201063099	201063099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:201063099C>T	uc001gvv.3	-	2	536	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.A102T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAATGATCTTCATGGCGGCTT	0.532000														59			20		0	0	0.003330	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460414	53460414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:53460414C>T	uc001sbt.2	-	8	1051	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	SPRYD3_uc010snw.2_Missense_Mutation_p.G148R	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	322										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGATGTCCCCTTTGTAACAG	0.587000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			8		0	0	0.004482	0	0
PPP4R4	57718	broad.mit.edu	37	14	94707091	94707091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:94707091C>T	uc001ycs.1	+	8	1089	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	312						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTCTTATTTCTTTATCTTTC	0.284000														50			9		0	0	0.006214	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919318	51919318	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:51919318C>T	uc002pwo.3	-	4	1080	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SIGLEC10_uc002pwp.3_Silent_p.L228L|SIGLEC10_uc021uyl.1_Silent_p.L203L|SIGLEC10_uc002pwq.3_Silent_p.L228L|SIGLEC10_uc010ycz.2_Silent_p.L238L|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Silent_p.L286L|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Silent_p.L98L|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	286	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGACCCAGCTCAGTGTGGCAG	0.657000														12			6		0	0	0.001168	0	0
ARPP21	10777	broad.mit.edu	37	3	35763118	35763118	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:35763118G>A	uc011axy.2	+	11	1127	c.915G>A	c.(913-915)ggG>ggA	p.G305G	ARPP21_uc003cga.3_Silent_p.G285G|ARPP21_uc003cgb.3_Silent_p.G339G|ARPP21_uc003cgf.3_Silent_p.G140G|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	339						cytoplasm	nucleic acid binding	p.E305G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGGCTCAGGGAGAACATCTG	0.542000														28			14		0	0	0.004007	0	0
LOC392232	392232	broad.mit.edu	37	8	73157129	73157129	+	RNA	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:73157129C>T	uc022avu.1	-	2		c.473G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		CGTGGAGGGGCGCAATCATGT	0.527000														96			51		0	0	0.003610	0	0
ROR2	4920	broad.mit.edu	37	9	94486685	94486685	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:94486685G>A	uc004arj.2	-	8	2290	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	ROR2_uc004ari.1_Silent_p.S557S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	697	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCCTGGTTGGAGTACCCGC	0.597000														8			35		0	0	0.003271	0	0
ATP7A	538	broad.mit.edu	37	X	77245339	77245339	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:77245339C>T	uc004ecx.4	+	3	1381	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	ATP7A_uc004ecw.2_Silent_p.S407S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	407	HMA 4.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GTGTAAAATCCATACGAGTCT	0.418000														71			56		0	0	0.003610	0	0
PSD3	23362	broad.mit.edu	37	8	18729960	18729960	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:18729960C>T	uc003wza.3	-	2	517	c.414G>A	c.(412-414)ctG>ctA	p.L138L		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	138					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGTGGCTTTCAGAGCTGAAA	0.438000														102			59		0	0	0.003610	0	0
MYO1E	4643	broad.mit.edu	37	15	59516941	59516941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:59516941C>T	uc002aga.3	-	7	1096	c.724G>A	c.(724-726)Ggc>Agc	p.G242S		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	242	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	p.G242G(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTGTATGAGCCCGAGAGGCTC	0.557000														45			17		0	0	0.004007	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404317	50404317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:50404317G>A	uc003daq.3	-	29	2593	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V	CACNA2D2_uc003dap.3_Missense_Mutation_p.A845V	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	852					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GAACTTCTCAGCCCAAGCCTC	0.597000														29			17		0	0	0.008871	0	0
ITIH2	3698	broad.mit.edu	37	10	7786237	7786237	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:7786237A>G	uc001ijs.3	+	17	2564	c.2402A>G	c.(2401-2403)aAt>aGt	p.N801S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	801					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAGTCACGAATCAGAGGCAA	0.448000														13			21		0	0	0.002780	0	0
THOC2	57187	broad.mit.edu	37	X	122754817	122754817	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:122754817C>T	uc004etu.3	-	32	4249	c.4217_splice	c.e32-1	p.E1406_splice	THOC2_uc010nqt.1_Splice_Site|THOC2_uc004etw.1_Splice_Site_p.E227_splice	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1406	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CGTTTTTGTTCTGTTAAGACA	0.388000														130			53		0	0	0.003610	0	0
POTEA	340441	broad.mit.edu	37	8	43147853	43147853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:43147853G>A	uc003xpz.1	+	0	269	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	POTEA_uc003xqa.1_Missense_Mutation_p.G76S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	76								p.W75*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCTGGTGGGGTGAAGTCCC	0.602000														45			23		0	0	0.003330	0	0
ZNF700	90592	broad.mit.edu	37	19	12059734	12059734	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:12059734A>G	uc010xme.2	+	4	1140	c.949A>G	c.(949-951)Agt>Ggt	p.S317G	ZNF700_uc002msu.3_Missense_Mutation_p.S299G|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACATGAAAGAAGTCACATGGG	0.388000														15			9		0	0	0.004482	0	0
MPZL2	10205	broad.mit.edu	37	11	118133342	118133342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:118133342G>A	uc001psn.3	-	2	630	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	MPZL2_uc001pso.3_Missense_Mutation_p.P83S	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	83	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGTTGGAAGGGATCTATGTGG	0.527000														29			12		0	0	0.000978	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380200	109380200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:109380200G>A	uc001dwa.3	-	6	1777	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	AKNAD1_uc010ovb.2_Missense_Mutation_p.A210V|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	503										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAAGGTGGAGGCCAAGTCATC	0.403000														56			30		0	0	0.005524	0	0
CDC20B	166979	broad.mit.edu	37	5	54420689	54420689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:54420689G>A	uc003jpo.2	-	8	1334	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	CDC20B_uc003jpn.2_Missense_Mutation_p.P386L|CDC20B_uc010ivu.2_Missense_Mutation_p.P386L|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	386										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACTGGCACCTGGATCGTGGGG	0.542000														47			28		0	0	0.005443	0	0
CNOT4	4850	broad.mit.edu	37	7	135080575	135080575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:135080575G>A	uc003vsv.2	-	8	1271	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	CNOT4_uc011kpy.2_Missense_Mutation_p.P314S|CNOT4_uc011kpz.2_Missense_Mutation_p.P311S|CNOT4_uc003vst.3_Missense_Mutation_p.P314S|CNOT4_uc003vss.3_Missense_Mutation_p.P311S|CNOT4_uc003vsu.2_Missense_Mutation_p.P311S	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	314					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAACTGATGGGGATGACTGGA	0.413000														23			11		0	0	0.002450	0	0
SLIT2	9353	broad.mit.edu	37	4	20525429	20525429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:20525429C>T	uc003gpr.1	+	12	1381	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	SLIT2_uc003gps.1_Nonsense_Mutation_p.Q393*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	393					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.F392F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGATGCTTTTCAGGATCTCCA	0.403000														66			21		0	0	0.002299	0	0
RENBP	5973	broad.mit.edu	37	X	153206981	153206981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:153206981G>A	uc004fjo.2	-	7	1065	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	RENBP_uc011mzh.1_3'UTR	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	299					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGGCCTCCGTGGTCAGGGTCC	0.572000														103			37		0	0	0.005524	0	0
TET2	54790	broad.mit.edu	37	4	106157388	106157388	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:106157388C>T	uc011cez.2	+	2	2757	c.2352C>T	c.(2350-2352)ccC>ccT	p.P784P	TET2_uc003hxk.3_Silent_p.P763P|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.P763P|TET2_uc010ilp.2_Silent_p.P763P|TET2_uc021xql.1_Silent_p.P763P	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	763	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.C784*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCCTCACCCCCAAAGCAACA	0.393000			"""Mis N, F"""		MDS									24			13		0	0	0.001368	0	0
FAT4	79633	broad.mit.edu	37	4	126373736	126373736	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:126373736G>A	uc003ifj.4	+	8	11565	c.11565G>A	c.(11563-11565)gcG>gcA	p.A3855A	FAT4_uc011cgp.2_Silent_p.A2153A|FAT4_uc003ifi.1_Silent_p.A1333A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3855	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A3855V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGATATGCGGGTAGCTGGT	0.473000														44			5		0	0	0.001984	0	0
OR2G2	81470	broad.mit.edu	37	1	247752125	247752125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:247752125G>A	uc010pyy.2	+	0	464	c.464G>A	c.(463-465)gGa>gAa	p.G155E		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G155E(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTCAGTGGAATAGCCACC	0.552000														99			121		0	0	0.003610	0	0
LAMC2	3918	broad.mit.edu	37	1	183209476	183209476	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:183209476T>C	uc001gqa.2	+	21	3592	c.3278T>C	c.(3277-3279)gTt>gCt	p.V1093A	LAMC2_uc001gpz.4_Missense_Mutation_p.V1093A|LAMC2_uc010poa.2_Missense_Mutation_p.V793A	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1093	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AACGCTGGGGTTACAATCCAA	0.483000														84			19		0	0	0.008871	0	0
STK33	65975	broad.mit.edu	37	11	8494754	8494754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:8494754C>T	uc001mgi.1	-	1	1214	c.295G>A	c.(295-297)Gga>Aga	p.G99R	STK33_uc001mgj.1_Missense_Mutation_p.G99R|STK33_uc001mgk.1_Missense_Mutation_p.G99R|STK33_uc010rbn.1_Missense_Mutation_p.G58R|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	99						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGAACTTTTCCTTCTGTAAAG	0.378000														120			35		0	0	0.006999	0	0
GABRE	2564	broad.mit.edu	37	X	151128445	151128445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:151128445G>A	uc004ffi.3	-	5	704	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGATAGGAAACTGGAAA	0.443000														39			23		0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196786854	196786854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:196786854G>A	uc002utj.4	-	23	3994	c.3893C>T	c.(3892-3894)tCc>tTc	p.S1298F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1298	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCCTAGGGGAATTACCCAG	0.343000														24			14		0	0	0.004990	0	0
BCOR	54880	broad.mit.edu	37	X	39923689	39923689	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:39923689C>T	uc004den.4	-	6	3694	c.3402G>A	c.(3400-3402)agG>agA	p.R1134R	BCOR_uc004dep.4_Silent_p.R1134R|BCOR_uc004deo.4_Silent_p.R1116R|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Silent_p.R1134R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1134					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGCGTTTCCTGTCCACCC	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							37			10		0	0	0.008291	0	0
CHD8	57680	broad.mit.edu	37	14	21873466	21873466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:21873466G>A	uc001war.2	-	14	3274	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	CHD8_uc001was.2_Missense_Mutation_p.S791F|CHD8_uc001wav.1_Missense_Mutation_p.S233F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1070					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.F1069L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGAAAGGAAGGAGAAATTCTT	0.408000														13			7		0	0	0.003080	0	0
PTPRU	10076	broad.mit.edu	37	1	29647298	29647298	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:29647298C>T	uc001bru.3	+	26	3948	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I	PTPRU_uc009vtq.3_Silent_p.I1269I|PTPRU_uc009vtr.3_Silent_p.I1260I|PTPRU_uc001brw.3_Silent_p.I1263I|PTPRU_uc001brx.3_5'UTR	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1273	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCACCTCCATCGTCATGCTCA	0.637000														35			43		0	0	0.002852	0	0
WNK2	65268	broad.mit.edu	37	9	96030347	96030347	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:96030347G>A	uc004ati.1	+	17	3913	c.3913_splice	c.e17+1	p.V1305_splice	WNK2_uc011lud.1_Splice_Site_p.V1305_splice|WNK2_uc004atj.3_Splice_Site_p.V1305_splice|WNK2_uc004atk.3_Splice_Site_p.V942_splice	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1305					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGCAGAACGGTGAGTCTGC	0.562000														4			3		0	0	0.004672	0	0
PRB3	5544	broad.mit.edu	37	12	11420585	11420585	+	Missense_Mutation	SNP	G	A	A	rs71057716		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:11420585G>A	uc001qzs.3	-	2	636	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	200	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(2)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637000														275			47		0	0	0.003610	0	0
FAM81A	145773	broad.mit.edu	37	15	59752222	59752222	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:59752222C>T	uc002agc.2	+	2	298	c.111C>T	c.(109-111)atC>atT	p.I37I	FAM81A_uc010uha.2_Silent_p.I37I	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	37										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AAGACAGGATCCTCTGCCATG	0.537000														21			8		0	0	0.003080	0	0
AK310441	0	broad.mit.edu	37	1	148882037	148882037	+	RNA	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:148882037C>T	uc009wkv.1	+	2		c.258C>T								Homo sapiens cDNA, FLJ17483.																		GTGACAAATTCACTTTGAATC	0.353000														85			7		0	0	0.003080	0	0
CCR7	1236	broad.mit.edu	37	17	38711075	38711075	+	Silent	SNP	G	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:38711075G>T	uc002huw.3	-	2	1131	c.1056C>A	c.(1054-1056)ctC>ctA	p.L352L		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	352					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACCACTGCCGGAGCTGCTCCT	0.607000														58			23		2.39556e-15	3.84427e-15	0.002780	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361563	70361563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:70361563G>A	uc003hek.4	-	0	64	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	6					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGAGCTGAAGTCCATTTCAT	0.443000														71			54		0	0	0.003610	0	0
SMG5	23381	broad.mit.edu	37	1	156233338	156233339	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:156233338_156233339CC>TT	uc001foc.4	-	12	2027_2028	c.1878_1879GG>AA	c.(1876-1881)tcggag>tcAAag	p.E627K		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	627					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCACTCCCCTCCGACTCAGAGC	0.564000														55			43		0	0	0.004672	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173357	41173357	+	Missense_Mutation	SNP	G	A	A	rs139416009		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:41173357G>A	uc003azc.3	-	5	612	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Missense_Mutation_p.R121C|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.R85C	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	158					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	p.R158R(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CCTTCATCGCGAATGATCTGA	0.398000														19			20		0	0	0.001882	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466754	50466754	+	Silent	SNP	T	C	C	rs60589832	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr13:50466754T>C	uc001vdk.2	+	0	2210	c.2028T>C	c.(2026-2028)gaT>gaC	p.D676D						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		ATGTGCCTGATTCATCTCTCC	0.453000														27			6		0	0	0.004482	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														6			5		0	0	0.001984	0	0
SAMD9	54809	broad.mit.edu	37	7	92732795	92732795	+	Silent	SNP	G	A	A	rs147774813		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:92732795G>A	uc003umf.3	-	2	2886	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	SAMD9_uc003umg.3_Silent_p.I872I|SAMD9_uc022ahg.1_Silent_p.I872I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	872						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)			GCTGTTCTTTGATTTCTTTCA	0.333000														43			20		0	0	0.007413	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540287	96540287	+	Silent	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:96540287C>T	uc010qnz.2	+	3	513	c.513C>T	c.(511-513)ggC>ggT	p.G171G	CYP2C19_uc009xus.1_Silent_p.G36G|CYP2C19_uc010qny.2_Silent_p.G149G	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	171					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCATCCTGGGCTGTGCTCCCT	0.328000														44			54		0	0	0.003610	0	0
ZNF761	388561	broad.mit.edu	37	19	53959643	53959643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:53959643C>T	uc010eqp.3	+	6	2340	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H574Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H574Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H627H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCGTAGACTTCATACCGGAGA	0.408000														54			29		0	0	0.007291	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704310	56704310	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:56704310T>A	uc010ygh.2	-	0	112	c.112A>T	c.(112-114)Agg>Tgg	p.R38W		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGGGTTCCTGTCGTGATTT	0.562000														21			3		0	0	0.000248	0	0
NYAP1	222950	broad.mit.edu	37	7	100087164	100087164	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:100087164A>T	uc003uvd.1	+	3	1979	c.1820A>T	c.(1819-1821)cAc>cTc	p.H607L	NYAP1_uc003uve.1_Missense_Mutation_p.H389L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	607																	TCCTGTGCCCACGTCATCGCC	0.632000														58			29		0	0	0.002096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093416	30093416	+	RNA	SNP	A	G	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:30093416A>G	uc010dmc.3	+	0		c.1791A>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCCTTGCTGAACCCTGAGATT	0.532000														25			12		0	0	0.000978	0	0
ZNF821	55565	broad.mit.edu	37	16	71894328	71894328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71894328G>A	uc010vmj.2	-	6	1240	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_Missense_Mutation_p.R128C|ZNF821_uc002fbf.3_Missense_Mutation_p.R236C|ZNF821_uc021tlb.1_Missense_Mutation_p.R278C|ZNF821_uc021tlc.1_3'UTR|ZNF821_uc002fbh.4_Missense_Mutation_p.R236C|ZNF821_uc002fbg.4_Missense_Mutation_p.R128C	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R277Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTGGCCGTGCGCTCTCGTTCC	0.627000														48			22		0	0	0.003330	0	0
RP9	6100	broad.mit.edu	37	7	33140157	33140157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:33140157G>A	uc003tdm.3	-	1	187	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	57	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATAAGCCCAGGAGGAGGTTTT	0.343000														39			6		0	0	0.001168	0	0
FSHR	2492	broad.mit.edu	37	2	49189984	49189984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:49189984G>A	uc002rww.3	-	9	2086	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	FSHR_uc010fbn.3_Missense_Mutation_p.S633L|FSHR_uc002rwx.3_Missense_Mutation_p.S597L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	659					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACAGTGGATGAAGTTTCTGT	0.443000									Gonadal Dysgenesis, 46 XX					34			7		0	0	0.004482	0	0
SPAG17	200162	broad.mit.edu	37	1	118548050	118548050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:118548050C>T	uc001ehk.2	-	31	4831	c.4763G>A	c.(4762-4764)gGa>gAa	p.G1588E	SPAG17_uc021osr.1_Missense_Mutation_p.G98E	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1588						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAAGTGTTTCCCTCAGGATC	0.428000														77			41		0	0	0.007835	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752003	140752003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:140752003C>T	uc003ljw.2	+	0	2042	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P681L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCACTCCCTCTGACCCT	0.567000														60			26		0	0	0.008361	0	0
ABCB5	340273	broad.mit.edu	37	7	20725384	20725384	+	Silent	SNP	A	C	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:20725384A>C	uc010kuh.3	+	15	2172	c.1935A>C	c.(1933-1935)tcA>tcC	p.S645S	ABCB5_uc003suw.4_Silent_p.S200S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	200	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R645C(1)|p.R645H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACCAACTCACTTCCTCTGC	0.388000														15			14		0	0	0.003163	0	0
CDK20	23552	broad.mit.edu	37	9	90586095	90586095	+	Silent	SNP	G	A	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:90586095G>A	uc004apr.3	-	2	679	c.345C>T	c.(343-345)gtC>gtT	p.V115V	CDK20_uc004aps.3_Silent_p.V115V|CDK20_uc022bjj.1_Silent_p.V115V|CDK20_uc004apt.3_Silent_p.V128V|CDK20_uc004apu.3_Silent_p.V115V	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	115	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCAGAAGGCGACACCCTTGA	0.612000														11			30		0	0	0.002445	0	0
TP53I13	90313	broad.mit.edu	37	17	27899688	27899688	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:27899688delA	uc002hee.3	+	5	1080	c.1042delA	c.(1042-1044)acafs	p.T348fs		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	348						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CTGGGGGCCCACAGCGGACAG	0.692													---	4	---	---	2	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													---	5	---	---	4	---					
NAP1L3	4675	broad.mit.edu	37	X	92927823	92927823	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:92927823delC	uc004efq.3	-	0	860	c.481delG	c.(481-483)gaafs	p.E161fs	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	161	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATTCACATTCTTCTTCTGTA	0.433													---	56	---	---	11	---