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
CYP24A1	1591	broad.mit.edu	37	20	52773943	52773943	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:52773943T>C	uc002xwv.2	-	9	1816	c.1418A>G	c.(1417-1419)cAt>cGt	p.H473R	CYP24A1_uc002xwu.1_Missense_Mutation_p.H331R|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	473					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AAGAGCCAAATGCAGTTGAAG	0.423000														35			38		0	0	0.086207	0	0
RERE	473	broad.mit.edu	37	1	8422892	8422892	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:8422892G>T	uc001ape.3	-	16	2563	c.1753C>A	c.(1753-1755)Cgc>Agc	p.R585S	RERE_uc001apf.3_Missense_Mutation_p.R585S|RERE_uc010nzx.1_Missense_Mutation_p.R317S|RERE_uc001apd.3_Missense_Mutation_p.R31S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	585					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGACCACTGCGTAGTGTCGAC	0.617000														54			24		1.1804e-14	1.42417e-14	0.091800	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117365303	117365303	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:117365303G>C	uc003vjf.3	-	17	4156	c.4064C>G	c.(4063-4065)tCt>tGt	p.S1355C		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1355										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACAGCTTAGACATCCACCT	0.468000														236			68		0	0	0.048971	0	0
ATM	472	broad.mit.edu	37	11	108155202	108155202	+	Splice_Site	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:108155202T>C	uc001pkb.1	+	26	4378	c.3993_splice	c.e26+2	p.Q1331_splice	ATM_uc009yxr.1_Splice_Site_p.Q1331_splice|ATM_uc001pkd.4_5'Flank|ATM_uc001pke.2_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1331					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAAAACAGGTATGGCTTCAA	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				51			31		0	0	0.041601	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147000262	147000262	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:147000262G>T	uc010jgo.1	-	16	2257	c.2109C>A	c.(2107-2109)gaC>gaA	p.D703E	JAKMIP2_uc003loq.1_Missense_Mutation_p.D703E|JAKMIP2_uc011dbx.1_Missense_Mutation_p.D661E|JAKMIP2_uc003lor.1_Missense_Mutation_p.D682E|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	703						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCTGTAGTCTAGTTCTT	0.388000														68			72		1.63007e-36	2.12868e-36	0.048971	1	0
NARF	26502	broad.mit.edu	37	17	80443450	80443450	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:80443450G>A	uc010dit.3	+	11	1324	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	NARF_uc002kff.4_Missense_Mutation_p.R291Q|NARF_uc002kfg.4_Missense_Mutation_p.R350Q|NARF_uc002kfj.4_Missense_Mutation_p.R302Q	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	350						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TATGGCTTTCGAAACATCCAG	0.493000														109			14		0	0	0.020292	0	0
STK11	6794	broad.mit.edu	37	19	1223168	1223168	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:1223168C>T	uc002lrl.1	+	7	2220	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	369					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCACGGTGCCCGGTGAGTC	0.642000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				11			8		0	0	0.047766	0	0
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:33345756T>C	uc002xav.3	-	7	3366	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_uc002xaw.3_Silent_p.Q265Q|NCOA6_uc021wcd.1_Silent_p.Q265Q|NCOA6_uc021wce.1_Silent_p.Q265Q|NCOA6_uc021wcf.1_Silent_p.Q265Q|NCOA6_uc010gew.1_Silent_p.Q222Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q265Q(2)|p.Q264Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537000														78			4		0	0	0.014758	0	0
SYNM	23336	broad.mit.edu	37	15	99672333	99672333	+	Silent	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:99672333G>T	uc002bup.3	+	4	3885	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1256	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGAGTCAGTGGGTACCCAGA	0.478000														58			31		1.80694e-10	2.13373e-10	0.041601	1	0
BNC2	54796	broad.mit.edu	37	9	16419221	16419221	+	Silent	SNP	A	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr9:16419221A>G	uc003zml.3	-	6	3206	c.3066T>C	c.(3064-3066)tcT>tcC	p.S1022S	BNC2_uc011lmw.2_Silent_p.S927S|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.S809S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGAACATAAGAGATCCTGAAA	0.547000														57			24		0	0	0.108266	0	0
WDR3	10885	broad.mit.edu	37	1	118502024	118502024	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:118502024A>G	uc010oxe.1	+	26	2852	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	929						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GAAGagaagaagaggaagagg	0.378000														38			20		0	0	0.049695	0	0
ASH1L	55870	broad.mit.edu	37	1	155491175	155491175	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:155491175C>T	uc009wqq.3	-	1	616	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	ASH1L_uc001fkt.3_Missense_Mutation_p.E46K|ASH1L_uc009wqr.1_Missense_Mutation_p.E46K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	46					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGTCCTCTTCCTCCTTTGTG	0.418000														275			135		0	0	0.048971	0	0
TBC1D20	128637	broad.mit.edu	37	20	419913	419913	+	Silent	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:419913G>T	uc002wds.3	-	6	933	c.795C>A	c.(793-795)gtC>gtA	p.V265V	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_Silent_p.V88V|TBC1D20_uc021vzm.1_5'Flank	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	265					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CACAGTCCAGGACTTCCTGCT	0.562000														26			39		7.05121e-23	8.89414e-23	0.039052	1	0
U2AF2	11338	broad.mit.edu	37	19	56180114	56180114	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:56180114G>A	uc002qlu.3	+	8	1956	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	U2AF2_uc002qlt.3_Missense_Mutation_p.G301S	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	301	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	p.G301D(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTCTCCAAGGGCTACGCCTT	0.617000														47			26		0	0	0.099896	0	0
TECRL	253017	broad.mit.edu	37	4	65180367	65180367	+	Splice_Site	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:65180367G>A	uc003hcv.3	-	5	660	c.551_splice	c.e5+1	p.H184_splice	TECRL_uc003hcw.3_Splice_Site_p.H184_splice	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	184					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATCACTTACTGTACCACTGGG	0.428000														19			10		0	0	0.058154	0	0
IRF6	3664	broad.mit.edu	37	1	209974723	209974723	+	Silent	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:209974723G>A	uc001hhq.2	-	2	340	c.36C>T	c.(34-36)ccC>ccT	p.P12P	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	12					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K11*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCAGCCAGGGCTTTAGCC	0.607000										HNSCC(57;0.16)				84			38		0	0	0.092188	0	0
SEPT11	55752	broad.mit.edu	37	4	77941678	77941678	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:77941678T>G	uc011cca.2	+	8	1190	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	SEPT11_uc010ijh.1_Missense_Mutation_p.F262V|SEPT11_uc003hkj.3_Missense_Mutation_p.F270V|SEPT11_uc003hkk.1_Missense_Mutation_p.F70V			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	270					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TCATTGCGATTTTGTGAAACT	0.468000														80			43		0	0	0.048971	0	0
SPDEF	25803	broad.mit.edu	37	6	34512076	34512076	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr6:34512076G>T	uc003ojq.2	-	1	591	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	SPDEF_uc011dsq.2_Missense_Mutation_p.Q53K	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	53					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q53H(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GACAGGCCCTGCTCGGGCGTG	0.687000														41			15		3.41278e-10	3.98757e-10	0.033300	1	0
AXIN1	8312	broad.mit.edu	37	16	396884	396884	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:396884T>G	uc002cgp.2	-	1	531	c.142A>C	c.(142-144)Aaa>Caa	p.K48Q	AXIN1_uc002cgq.2_Missense_Mutation_p.K48Q	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	48					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.G47R(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCAACACCTTTCCCGGAGCAG	0.627000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		26			38		0	0	0.069456	0	0
CDAN1	146059	broad.mit.edu	37	15	43023981	43023981	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:43023981C>T	uc001zql.3	-	10	1693	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	526						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TCTGGGGCCTCGCCCAAGACG	0.587000														56			30		0	0	0.041601	0	0
APP	351	broad.mit.edu	37	21	27348294	27348294	+	Silent	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr21:27348294A>C	uc002ylz.3	-	9	1472	c.1272T>G	c.(1270-1272)ccT>ccG	p.P424P	APP_uc010glk.3_Silent_p.P400P|APP_uc002yma.3_Silent_p.P405P|APP_uc011ach.2_Silent_p.P368P|APP_uc021whz.1_Silent_p.P424P|APP_uc021wia.1_Silent_p.P405P|APP_uc002ymb.3_Silent_p.P349P|APP_uc010glj.3_Silent_p.P293P|APP_uc021wib.1_Silent_p.P349P|APP_uc011aci.2_Silent_p.P314P	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	424					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TATCAGCTTTAGGCAAGTTCT	0.383000														52			25		0	0	0.091800	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127230	226127230	+	Silent	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:226127230G>A	uc001hpt.2	-	2	811	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	LEFTY2_uc010pvk.2_Silent_p.L156L|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	190					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGCCGGCTCAGCTGCTGCCAG	0.672000														22			12		0	0	0.105934	0	0
MLL2	8085	broad.mit.edu	37	12	49416134	49416134	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:49416134A>C	uc001rta.4	-	51	16341	c.16341T>G	c.(16339-16341)aaT>aaG	p.N5447K		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5447	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGATGCCTCGATTCTAGAAAG	0.512000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			14		0	0	0.105934	0	0
FAM65C	140876	broad.mit.edu	37	20	49219116	49219116	+	Silent	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:49219116G>A	uc010zyt.2	-	12	1403	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.L380L|FAM65C_uc002xvn.1_Silent_p.L380L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	380										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGGTAGCTGAGGATGGAGG	0.637000														75			22		0	0	0.062417	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56787577	56787577	+	Silent	SNP	G	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:56787577G>C	uc003dih.2	-	6	599	c.489C>G	c.(487-489)tcC>tcG	p.S163S	ARHGEF3_uc011bew.1_Silent_p.S131S|ARHGEF3_uc011bev.1_Silent_p.S102S|ARHGEF3_uc003dif.2_Silent_p.S137S|ARHGEF3_uc003dig.2_Silent_p.S131S|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Silent_p.S131S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	131	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTTCTCCTTGGGAAAGCTCAA	0.363000														60			17		0	0	0.038395	0	0
RP1L1	94137	broad.mit.edu	37	8	10470573	10470573	+	Silent	SNP	C	T	T	rs73201157	by1000genomes	TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr8:10470573C>T	uc003wtc.3	-	3	1264	c.1035G>A	c.(1033-1035)agG>agA	p.R345R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	345					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCGCTGGCCCTGCCCATCC	0.657000														113			5		0	0	0.014758	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449145	104449145	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr9:104449145C>G	uc004bbp.2	-	1	1638	c.1037G>C	c.(1036-1038)gGg>gCg	p.G346A	GRIN3A_uc004bbq.1_Missense_Mutation_p.G346A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	346					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGCATGACCCCAAACTGGGT	0.507000														33			30		0	0	0.041601	0	0
SCRN2	90507	broad.mit.edu	37	17	45916322	45916322	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:45916322C>A	uc002imd.3	-	4	733	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	SCRN2_uc002imf.3_Missense_Mutation_p.A203S	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	203					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGGTGTTGGGCCGAGATGTCC	0.592000														97			51		2.29192e-23	2.92417e-23	0.048971	1	0
MST1P2	11209	broad.mit.edu	37	1	16974585	16974585	+	RNA	SNP	C	T	T	rs142060675	by1000genomes	TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:16974585C>T	uc009vow.2	+	4		c.1395C>T			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GAACTTCTGCCGGAACCCCGA	0.662000														89			4		0	0	0.029380	0	0
BC101079	0	broad.mit.edu	37	15	102292770	102292770	+	Nonsense_Mutation	SNP	C	T	T	rs149751844	by1000genomes	TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:102292770C>T	uc010usj.2	+	3	417	c.358C>T	c.(358-360)Cga>Tga	p.R120*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCGGCGCGACGAGATGCTGC	0.597000														20			4		0	0	0.014758	0	0
C12orf39	80763	broad.mit.edu	37	12	21679409	21679409	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:21679409G>A	uc001rfa.1	+	0	154	c.3G>A	c.(1-3)atG>atA	p.M1I	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	1						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CGCAGAACATGAAGGTAAGTA	0.303000														20			10		0	0	0.080935	0	0
CMAS	55907	broad.mit.edu	37	12	22218064	22218064	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:22218064T>A	uc001rfm.3	+	7	1203	c.1124T>A	c.(1123-1125)gTg>gAg	p.V375E	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	375					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGAAATGAAGTGTCTGATGAA	0.403000														110			110		0	0	0.048971	0	0
PALB2	79728	broad.mit.edu	37	16	23646368	23646368	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:23646368G>A	uc002dlx.1	-	3	1699	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	500					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCCTTCCTAGACAAGTCATT	0.473000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						158			54		0	0	0.048971	0	0
NIPBL	25836	broad.mit.edu	37	5	36984988	36984988	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:36984988A>T	uc003jkl.4	+	9	2205	c.1706A>T	c.(1705-1707)gAa>gTa	p.E569V	NIPBL_uc003jkk.4_Missense_Mutation_p.E569V|NIPBL_uc003jkm.1_Missense_Mutation_p.E448V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	569					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGCCTGAAGAAATCAAACAA	0.393000														96			62		0	0	0.048971	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368726	18368726	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:18368726C>G	uc010ebn.2	-	3	3584	c.3368G>C	c.(3367-3369)gGc>gCc	p.G1123A	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.G936A|KIAA1683_uc010xqe.1_Missense_Mutation_p.G890A|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1123	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCACGGACGCCCGCCTGGAT	0.672000														68			35		0	0	0.074837	0	0
EAF2	55840	broad.mit.edu	37	3	121591418	121591418	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:121591418G>A	uc003een.3	+	4	618	c.519G>A	c.(517-519)atG>atA	p.M173I	EAF2_uc003eeo.3_Missense_Mutation_p.M43I	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	173					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TGGACCAGATGAGTAGTTGTG	0.313000														100			116		0	0	0.048971	0	0
LOC493754	493754	broad.mit.edu	37	7	66010596	66010596	+	RNA	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:66010596C>A	uc010lac.2	-	3		c.625G>T			LOC493754_uc010lad.3_Non-coding_Transcript|LOC493754_uc011kdx.2_Non-coding_Transcript					Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 pseudogene (LOC493754), non-coding RNA.																		ACGACATCCACTGGCTGGAGA	0.592000														29			29		2.36697e-06	2.73681e-06	0.034045	1	0
ENDOD1	23052	broad.mit.edu	37	11	94823276	94823276	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:94823276C>T	uc001pfh.3	+	0	303	c.185C>T	c.(184-186)gCt>gTt	p.A62V		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	62						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GCGGAGGGTGCTGAGCGCTTC	0.716000														10			6		0	0	0.029380	0	0
ZGPAT	84619	broad.mit.edu	37	20	62369217	62369217	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:62369217C>T	uc002ygp.4	+	2	1091	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_Missense_Mutation_p.R48W|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	419					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGGAGGCAGCGGGCGAGGCT	0.756000														20			3		0	0	0.009096	0	0
HTT	3064	broad.mit.edu	37	4	3156098	3156098	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:3156098C>A	uc021xkv.1	+	26	3722	c.3577C>A	c.(3577-3579)Caa>Aaa	p.Q1193K		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1193					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.E1192K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCAGGAGAACAAGCATCTGT	0.498000														22			8		0.000274275	0.000307521	0.047766	1	0
CENPT	80152	broad.mit.edu	37	16	67863889	67863889	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:67863889T>A	uc002eun.4	-	11	1514	c.965A>T	c.(964-966)gAa>gTa	p.E322V	CENPT_uc010vkc.2_Missense_Mutation_p.E80V|CENPT_uc010vkd.1_Missense_Mutation_p.E75V|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	322					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGGCTCTACTTCATCTTCTCC	0.532000														199			73		0	0	0.048971	0	0
HERC1	8925	broad.mit.edu	37	15	64021464	64021464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:64021464C>T	uc002amp.3	-	15	3273	c.3125G>A	c.(3124-3126)tGg>tAg	p.W1042*	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1042					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTGCCATTCCAAGGACTTTC	0.363000														16			3		0	0	0.009096	0	0
VWF	7450	broad.mit.edu	37	12	6138619	6138619	+	Silent	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:6138619G>A	uc001qnn.1	-	21	3106	c.2856C>T	c.(2854-2856)caC>caT	p.H952H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	952	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACCTCAAAGTGAGTCTCAT	0.572000														41			68		0	0	0.048971	0	0
CP	1356	broad.mit.edu	37	3	148930432	148930432	+	Missense_Mutation	SNP	T	C	C	rs141532762		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:148930432T>C	uc003ewy.4	-	1	453	c.200A>G	c.(199-201)tAt>tGt	p.Y67C	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Missense_Mutation_p.Y67C	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	67	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGCCTTCTTATATAGTCTCCC	0.388000														33			25		0	0	0.108266	0	0
SNX9	51429	broad.mit.edu	37	6	158288583	158288583	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr6:158288583G>A	uc003qqv.1	+	1	190	c.17G>A	c.(16-18)cGg>cAg	p.R6Q		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	6	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGATAGGCTCGGGTTATGTAT	0.393000														40			20		0	0	0.055883	0	0
C2orf73	129852	broad.mit.edu	37	2	54587528	54587528	+	Silent	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:54587528G>T	uc002rxt.1	+	4	735	c.693G>T	c.(691-693)ctG>ctT	p.L231L	C2orf73_uc010yor.1_Silent_p.L173L|C2orf73_uc002rxs.1_Silent_p.L110L|C2orf73_uc010yos.1_Non-coding_Transcript	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA.	231										breast(2)	2						CTCAGGAGCTGTTAGAGCCTA	0.493000														21			6		0.000157383	0.000178261	0.038147	1	0
SUMF1	285362	broad.mit.edu	37	3	4490972	4490972	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:4490972A>C	uc003bpz.2	-	2	534	c.497T>G	c.(496-498)gTg>gGg	p.V166G	SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Intron|SUMF1_uc010hby.2_Missense_Mutation_p.V166G|SUMF1_uc011ast.2_Intron	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.	166						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATTGGTCTTCACTTGCTCACT	0.393000														136			71		0	0	0.048971	0	0
SLC41A1	254428	broad.mit.edu	37	1	205770146	205770146	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:205770146C>T	uc001hdh.1	-	2	1287	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	139						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCGCAGGCACTAGGATGAAG	0.562000														72			34		0	0	0.064281	0	0
SEMA4G	57715	broad.mit.edu	37	10	102732887	102732887	+	Splice_Site	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr10:102732887G>A	uc001krw.2	+	2	509	c.125_splice	c.e2-1	p.E42_splice	SEMA4G_uc001krv.3_Splice_Site|SEMA4G_uc010qpt.1_Splice_Site_p.E42_splice|SEMA4G_uc001krx.3_Splice_Site_p.E42_splice|MIR608_uc021pxa.1_5'Flank	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	42	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCTCCCCAGAGCTCTCTGGGA	0.622000														52			3		0	0	0.004672	0	0
AATK	9625	broad.mit.edu	37	17	79094413	79094413	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:79094413A>C	uc010dia.3	-	10	3403	c.3323T>G	c.(3322-3324)cTg>cGg	p.L1108R	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.L1005R	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1108	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTGATCTCAGCGGAACCGG	0.692000														8			3		0	0	0.004672	0	0
ANO10	55129	broad.mit.edu	37	3	43618738	43618738	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:43618738T>A	uc003cmv.3	-	5	779	c.608A>T	c.(607-609)tAc>tTc	p.Y203F	ANO10_uc011azs.2_Missense_Mutation_p.Y203F|ANO10_uc003cmw.3_Missense_Mutation_p.Y137F|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Missense_Mutation_p.Y92F	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	203					cell death	chloride channel complex	chloride channel activity	p.Y203*(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTCCCCAAAGTAGCCACGAAT	0.343000														30			14		0	0	0.028581	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394764	5394764	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr18:5394764T>G	uc002kmt.1	-	21	3268	c.3182A>C	c.(3181-3183)aAa>aCa	p.K1061T	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.K839T|EPB41L3_uc010dkq.1_Missense_Mutation_p.K730T|EPB41L3_uc002kms.1_Missense_Mutation_p.K296T|EPB41L3_uc010wze.1_Missense_Mutation_p.K366T|EPB41L3_uc010wzf.1_Missense_Mutation_p.K358T|EPB41L3_uc010wzg.1_Missense_Mutation_p.K333T|EPB41L3_uc010dkr.2_Missense_Mutation_p.K453T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1061	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGCTGCTCTTTGGCCTCTTT	0.498000														67			39		0	0	0.098360	0	0
GLYR1	84656	broad.mit.edu	37	16	4895118	4895118	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:4895118C>G	uc002cxx.4	-	2	149	c.112G>C	c.(112-114)Gga>Cga	p.G38R	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.G38R|GLYR1_uc010uxv.1_Missense_Mutation_p.G38R|UBN1_uc010uxw.2_5'Flank|UBN1_uc002cyb.3_5'Flank	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	38	PWWP.				pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATTTCTTTCCGCGAGGTTTC	0.463000														101			106		0	0	0.048971	0	0
LRRC23	10233	broad.mit.edu	37	12	7014840	7014840	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:7014840G>C	uc001qrt.4	+	1	435	c.43G>C	c.(43-45)Gat>Cat	p.D15H	LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Missense_Mutation_p.D15H|LRRC23_uc001qrq.3_Missense_Mutation_p.D15H|LRRC23_uc001qrs.3_5'UTR|LRRC23_uc009zfh.3_Missense_Mutation_p.D15H	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	15										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCCAGACCAGGATGATTCTga	0.498000														94			37		0	0	0.064281	0	0
KRT33A	3883	broad.mit.edu	37	17	39505660	39505660	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:39505660C>G	uc002hwk.1	-	1	406	c.369G>C	c.(367-369)gaG>gaC	p.E123D		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	123	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCTGGCATTCTCAGACTTGC	0.478000														33			24		0	0	0.034045	0	0
UNC5B	219699	broad.mit.edu	37	10	73055666	73055666	+	Silent	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr10:73055666C>T	uc001jro.3	+	13	2725	c.2274C>T	c.(2272-2274)ctC>ctT	p.L758L	UNC5B_uc001jrp.3_Silent_p.L747L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	758					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCTCTCCCTCCATGACCTCC	0.612000														56			39		0	0	0.111260	0	0
PDXDC1	23042	broad.mit.edu	37	16	15122744	15122744	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:15122744T>G	uc002dda.4	+	14	1438	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C	PDXDC1_uc010uzl.2_Missense_Mutation_p.F390C|PDXDC1_uc010uzm.2_Missense_Mutation_p.F314C|PDXDC1_uc002dcz.3_Missense_Mutation_p.F382C|PDXDC1_uc002ddb.4_Missense_Mutation_p.F378C|PDXDC1_uc010uzn.2_Missense_Mutation_p.F377C|PDXDC1_uc002ddc.3_Missense_Mutation_p.F405C	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	405					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GATCCGGTGTTTAAAGCCGTC	0.552000														76			3		0	0	0.021553	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17124313	17124313	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:17124313A>C	uc001mmq.4	-	22	3812	c.3747T>G	c.(3745-3747)tgT>tgG	p.C1249W	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.C869W|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1249	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGTGTCGATCACAGATGCCTA	0.383000														60			35		0	0	0.059317	0	0
SPEN	23013	broad.mit.edu	37	1	16203085	16203085	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:16203085C>A	uc001axk.1	+	2	997	c.793C>A	c.(793-795)Ccc>Acc	p.P265T	SPEN_uc010obp.1_Missense_Mutation_p.P224T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	265	Arg-rich.|Ser-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCTAGACCCACAAGGTC	0.527000														74			4		0.00909568	0.00999624	0.009096	1	0
CLCN2	1181	broad.mit.edu	37	3	184071155	184071155	+	Silent	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:184071155C>A	uc003foi.3	-	16	2035	c.1911G>T	c.(1909-1911)ggG>ggT	p.G637G	CLCN2_uc003foh.3_Silent_p.G161G|CLCN2_uc010hya.2_Silent_p.G620G|CLCN2_uc011brl.2_Silent_p.G637G|CLCN2_uc011brm.2_Silent_p.G593G	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	637	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TCAGCTGGGCCCCCAACAATG	0.637000														34			31		7.26314e-15	8.85944e-15	0.034045	1	0
MASTL	84930	broad.mit.edu	37	10	27459483	27459483	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr10:27459483T>C	uc001itm.3	+	7	2198	c.1595T>C	c.(1594-1596)cTt>cCt	p.L532P	MASTL_uc001itl.3_Missense_Mutation_p.L532P|MASTL_uc009xkw.2_Missense_Mutation_p.L532P|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	532	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAAAAAACCTTATGTGTGAA	0.313000														71			39		0	0	0.111260	0	0
PIGR	5284	broad.mit.edu	37	1	207109097	207109097	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:207109097C>T	uc001hez.3	-	4	1296	c.1112G>A	c.(1111-1113)tGc>tAc	p.C371Y	PIGR_uc009xbz.3_Missense_Mutation_p.C371Y	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	371	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTGTAGGGGCAGAGCACGGC	0.622000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			14		0	0	0.024245	0	0
PDZK1	5174	broad.mit.edu	37	1	145761288	145761288	+	Silent	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:145761288T>C	uc001eon.2	+	7	1258	c.1101T>C	c.(1099-1101)gaT>gaC	p.D367D	PDZK1_uc001eoo.2_Silent_p.D367D|PDZK1_uc010oza.2_Silent_p.D256D	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	367					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	p.D367N(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTCCACCAGATACTACAGAGG	0.483000														88			57		0	0	0.048971	0	0
KDM6B	23135	broad.mit.edu	37	17	7755333	7755333	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:7755333G>C	uc002gix.3	+	7	2973	c.2136G>C	c.(2134-2136)tgG>tgC	p.W712C	KDM6B_uc002giw.1_Missense_Mutation_p.W1410C	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1410	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTGCGAGTGGTTCGCGGTGC	0.627000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			13		0	0	0.093190	0	0
COL6A6	131873	broad.mit.edu	37	3	130287032	130287032	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:130287032G>A	uc010htl.3	+	4	2016	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	662	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCAAATTGGTGTAGTCCAG	0.408000														181			63		0	0	0.048971	0	0
MET	4233	broad.mit.edu	37	7	116417463	116417463	+	Missense_Mutation	SNP	C	T	T	rs121913244		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:116417463C>T	uc003vij.3	+	15	3467	c.3280C>T	c.(3280-3282)Cat>Tat	p.H1094Y	MET_uc010lkh.3_Missense_Mutation_p.H1112Y|MET_uc011knj.2_Missense_Mutation_p.H664Y	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1094	Protein kinase.		H -> L (in RCCP; constitutive autophosphorylation; causes malignant transformation in cell lines).|H -> R (in RCCP; causes malignant transformation in cell lines).|H -> Y (in RCCP; constitutive autophosphorylation; causes malignant transformation in cell lines).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L1094L(1)|p.Q1029_G1105del(1)|p.H1112Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGTGTATATCATGGGACTTT	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					97			114		0	0	0.048971	0	0
MLL3	58508	broad.mit.edu	37	7	151917756	151917756	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:151917756C>A	uc003wla.3	-	22	3783	c.3564G>T	c.(3562-3564)caG>caT	p.Q1188H	MLL3_uc003wkz.3_Missense_Mutation_p.Q249H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1188					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGTGAGGCTCTGTAACTGAG	0.408000			N		medulloblastoma									64			55		7.82978e-24	1.01059e-23	0.048971	1	0
MAST2	23139	broad.mit.edu	37	1	46290209	46290209	+	Silent	SNP	T	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:46290209T>C	uc001cov.3	+	1	565	c.282T>C	c.(280-282)gaT>gaC	p.D94D	MAST2_uc001cow.3_Silent_p.D94D	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	94					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGAGTCAGGATGATTGTAAGT	0.398000														142			74		0	0	0.048971	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744251	234744251	+	Silent	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:234744251G>T	uc001hwg.3	-	0	1021	c.990C>A	c.(988-990)gcC>gcA	p.A330A	IRF2BP2_uc009xfw.3_5'Flank|IRF2BP2_uc001hwf.3_Silent_p.A330A	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTGCAGTCAGGGCCGGCTCCT	0.637000														19			9		9.05144e-12	1.08033e-11	0.105934	1	0
CREBBP	1387	broad.mit.edu	37	16	3807907	3807907	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:3807907G>A	uc002cvv.3	-	17	3716	c.3512C>T	c.(3511-3513)aCa>aTa	p.T1171I	CREBBP_uc002cvw.3_Missense_Mutation_p.T1133I	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1171	Bromo.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACTCGGGATGTCTTGCGATT	0.502000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							89			37		0	0	0.069456	0	0
CDH17	1015	broad.mit.edu	37	8	95201459	95201459	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr8:95201459A>C	uc003ygh.2	-	2	231	c.106T>G	c.(106-108)Ttt>Gtt	p.F36V	CDH17_uc011lgo.1_Missense_Mutation_p.F36V|CDH17_uc011lgp.1_Missense_Mutation_p.F36V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	36	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAAATAGAAAATGTCATGGGT	0.403000														14			63		0	0	0.048971	0	0
ZNF433	163059	broad.mit.edu	37	19	12126384	12126384	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:12126384G>T	uc002msy.1	-	3	1469	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.S398Y	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GAGTGAGGCAGATCTGAAGGC	0.418000														67			28		3.80469e-20	4.69246e-20	0.041601	1	0
GNB5	10681	broad.mit.edu	37	15	52446239	52446239	+	Silent	SNP	C	T	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:52446239C>T	uc002abt.1	-	3	338	c.273G>A	c.(271-273)ggG>ggA	p.G91G	GNB5_uc002abr.1_Silent_p.G49G|GNB5_uc002abs.1_Silent_p.G49G|GNB5_uc002abu.3_Silent_p.G49G	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	91						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGACAAACTGCCCCAGGGCCT	0.572000														38			17		0	0	0.028581	0	0
CREBRF	153222	broad.mit.edu	37	5	172518026	172518026	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:172518026C>G	uc003mch.3	+	3	1163	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	CREBRF_uc003mcf.3_Missense_Mutation_p.L282V|CREBRF_uc003mcg.3_Missense_Mutation_p.L282V|CREBRF_uc011dfd.1_Missense_Mutation_p.L282V	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	282							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GATGGAGCCTCTTCAAGGTCA	0.522000														59			25		0	0	0.091800	0	0
EXOC8	149371	broad.mit.edu	37	1	231472205	231472205	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:231472205C>A	uc001huq.3	-	0	1374	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	429					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAAAAATAGCTCACAGGCCT	0.527000														61			18		0.000566183	0.000628463	0.033300	1	0
ARHGAP26	23092	broad.mit.edu	37	5	142416823	142416823	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:142416823A>G	uc011dbj.2	+	12	1242	c.1207A>G	c.(1207-1209)Aga>Gga	p.R403G	ARHGAP26_uc003lmt.3_Missense_Mutation_p.R403G|ARHGAP26_uc003lmw.3_Missense_Mutation_p.R403G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	403	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGAAACCAGAGGTAAAGT	0.468000														32			39		0	0	0.074837	0	0
HAGH	3029	broad.mit.edu	37	16	1869997	1869997	+	Silent	SNP	A	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:1869997A>G	uc002cna.3	-	3	740	c.333T>C	c.(331-333)aaT>aaC	p.N111N	HAGH_uc002cmz.3_Silent_p.N63N|HAGH_uc010uvp.2_Silent_p.N111N|HAGH_uc010bry.1_Silent_p.N111N	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CCAGTTTCTCATTCCCGCCAG	0.617000														85			25		0	0	0.083992	0	0
PLAC1L	219990	broad.mit.edu	37	11	59811100	59811100	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:59811100G>A	uc001nol.3	+	1	408	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	75						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCTTGTTCGTGATTGTGGCAT	0.338000														33			21		0	0	0.076483	0	0
ULK1	8408	broad.mit.edu	37	12	132405713	132405713	+	Silent	SNP	C	G	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:132405713C>G	uc001uje.3	+	26	3298	c.3030C>G	c.(3028-3030)gcC>gcG	p.A1010A		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	1010					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCACAAGGCCCTGCTGCTCC	0.677000														37			43		0	0	0.048971	0	0
GPR113	165082	broad.mit.edu	37	2	26533773	26533773	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:26533773delC	uc002rhe.4	-	10	2823	c.2823delG	c.(2821-2823)gggfs	p.G941fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G872fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G544fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G742fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G544fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	941					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACCAGCCCATTCACGC	0.597													---	21	---	---	18	---					
TMF1	7110	broad.mit.edu	37	3	69096768	69096770	+	In_Frame_Del	DEL	GAA	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:69096768_69096770delGAA	uc011bfx.2	-	1	1333_1335	c.1086_1088delTTC	c.(1084-1089)tcttca>tca	p.362_363SS>S	TMF1_uc003dnn.3_In_Frame_Del_p.362_363SS>S	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	362					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTTGGAGTTGAAGAATTAACTA	0.355													---	71	---	---	27	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													---	4	---	---	3	---					
FAM160B2	64760	broad.mit.edu	37	8	21953846	21953847	+	Splice_Site	DEL	AG	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr8:21953846_21953847delAG	uc011kyx.2	+	3	176	c.125_splice	c.e3-1	p.D42_splice	FAM160B2_uc011kyw.1_3'UTR|FAM160B2_uc011kyy.2_Splice_Site	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	42										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AAACATCATTAGATGAAAGCAC	0.564													---	2	---	---	5	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	4	---	---	3	---					
CLIP1	6249	broad.mit.edu	37	12	122812693	122812694	+	Frame_Shift_Ins	INS	-	T	T	rs77289752		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:122812693_122812694insT	uc001ucg.2	-	16	3204_3205	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T1006fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T971fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.T592fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1017					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTGTGGCTTGTTTCCATTTTC	0.505													---	293	---	---	9	---					
EXOC5	10640	broad.mit.edu	37	14	57702498	57702498	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr14:57702498delA	uc001xct.3	-	6	851	c.600delT	c.(598-600)tttfs	p.F200fs	EXOC5_uc010trg.2_Frame_Shift_Del_p.F145fs|EXOC5_uc010trh.2_Frame_Shift_Del_p.F135fs	NM_006544	NP_006535	O00471	EXOC5_HUMAN	Homo sapiens exocyst complex component 5 (EXOC5), mRNA.	200					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GAGCACTGGTAAACTCCTGAA	0.353													---	4	---	---	2	---					
MEP1B	4225	broad.mit.edu	37	18	29787415	29787415	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr18:29787415delA	uc002kxj.4	+	7	795	c.748delA	c.(748-750)aatfs	p.N250fs		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	250	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCTAAAGTTGAATCAACTGTA	0.398													---	16	---	---	8	---					
